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Sample records for macrocephaly-capillary malformation syndrome

  1. Macrocephaly-capillary malformation syndrome in a newborn with tetralogy of fallot and sagittal sinus thrombosis.

    PubMed

    Ercan, Tugba Erener; Oztunc, Funda; Celkan, Tiraje; Bor, Meltem; Kizilkilic, Osman; Vural, Mehmet; Perk, Yildiz; Islak, Civan; Tuysuz, Beyhan

    2013-01-01

    Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular malformations with associated anomalies as macrocephaly, macrosomia, hemihypertrophy, hypotonia, developmental delay, lax joints, loose skin, polysyndactyly, and neuroimaging abnormalities. We present a newborn with a prenatal diagnosis of macrosomia and tetralogy of Fallot. He also had macrocephaly; a high forehead; capillary hemangioma on the forehead, upper lip, and philtrum; generalized loose skin; postaxial polydactyly of both hands and feet, with neuroimaging findings of polymicrogyria and thrombosis in sagittal sinus and sinus rectus. His condition was diagnosed as macrocephaly-capillary malformation syndrome in the neonatal period and he died suddenly during sleep at 6 months of age. The clinical course in this syndrome is not as benign as was previously thought. Careful follow-up of these patients with particular emphasis on neuroradiologic and cardiologic evaluation might help decrease the risk of sudden death and to improve long-term outcome. PMID:22451530

  2. Macrocephaly-capillary malformation presenting with fetal arrhythmia.

    PubMed

    Kuint, Jacob; Globus, Omer; Ben Simon, Guy J; Greenberger, Shoshana

    2012-01-01

    Macrocephaly-capillary malformation (OMIM 602501) is a rare overgrowth and asymmetry syndrome. Cardiac arrhythmias were reported to occur in few patients. We present a case in which fetal arrhythmia was the presenting symptom of the syndrome. PMID:22329570

  3. Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature

    PubMed Central

    2009-01-01

    Introduction Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not previously been reported in association with this syndrome. Case presentation We present a case of a Mexican newborn girl with tetralogy of Fallot associated with macrocephaly-capillary malformation. We discuss the clinical treatment of the patient and its consequences. Conclusion Since physiologic cutis marmorata is a common condition in newborns, the information provided in this report could be helpful in future cases in preventing severe clinical consequences or sudden death in patients with similar symptoms. PMID:20210980

  4. Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis.

    PubMed

    Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

    2011-11-01

    There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist's role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients. PMID:22000870

  5. Diagnosis and management of extensive vascular malformations of the lower limb: part II. Systemic repercussions [corrected], diagnosis, and treatment.

    PubMed

    Redondo, Pedro; Aguado, Leyre; Martínez-Cuesta, Antonio

    2011-11-01

    At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel-Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, Parkes Weber syndrome, Stewart-Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. Extensive vascular malformations are often more complex than they appear and require a multidisciplinary therapeutic approach. Vascular malformations may be associated with underlying disease or systemic anomalies. Part II of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limb highlights the systemic repercussions [corrected] (bone, articular, visceral, and hematologic involvement), diagnosis, and treatment of these lesions. PMID:22000871

  6. FTO variant associated with malformation syndrome.

    PubMed

    Rohena, Luis; Lawson, Michelle; Guzman, Edwin; Ganapathi, Mythily; Cho, Megan T; Haverfield, Eden; Anyane-Yeboa, Kwame

    2016-04-01

    Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity. © 2015 Wiley Periodicals, Inc. PMID:26697951

  7. Genetics Home Reference: Capillary malformation-arteriovenous malformation syndrome

    MedlinePLUS

    ... and families Gene Reviews Clinical summary Genetic Testing Registry Genetic testing ClinicalTrials.gov Research studies PubMed Recent ... providers. Gene Review: RASA1-Related Disorders Genetic Testing Registry: Capillary malformation-arteriovenous malformation You might also find ...

  8. Neurocutaneous vascular syndromes.

    PubMed

    Puttgen, Katherine B; Lin, Doris D M

    2010-10-01

    There have been significant recent advances in the past several years in the field of neurocutaneous vascular syndromes, including the development of more stringent diagnostic criteria for PHACE syndrome, the renaming of macrocephaly-cutis marmorata telangiectatica congenita to macrocephaly-capillary malformation to accurately reflect the true nature of the syndrome, and discovery of new genetic mutations such as RASA-1. There have also been advances in the understanding and management of Sturge-Weber syndrome.PHACE syndrome is a constellation of neurologic, arterial, cardiac, ophthalmologic, and sternal abnormalities associated with infantile hemangiomas. PHACE is an acronym for Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of the aorta, Eye abnormalities. Some authors include an "S" for PHACE(S) to denote the association of ventral defects including Sternal clefting and Supraumbilical raphe.The accurate diagnosis and work-up of these patients require coordination of care across multiple disciplines, including neuroradiology, radiology, dermatology, neurology, surgery, and interventional radiology, among others.This paper is meant to update clinicians and researchers about important advances in these rare, important vascular syndromes, to improve care, and lay the foundation for future directions for research. PMID:20582592

  9. Capillary malformation-arteriovenous malformation syndrome with spinal involvement.

    PubMed

    Yi?, Uluç; Kurul, Semra H; Güleryüz, Handan; Men, Süleyman

    2014-01-01

    Capillary malformation-arteriovenous malformation (CM-AVM) is a recently identified autosomal dominant disorder. Arteriovenous lesions have been reported in the brain, limbs, and face. We report a 7-year-old patient with CM-AVM with spinal AVM, which is a rarely reported association. PMID:25040073

  10. A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome

    PubMed Central

    Gopal, Balaji; Keshava, Shyamkumar N; Selvaraj, Deepak

    2015-01-01

    There are many overgrowth syndromes described in the literature. Few are associated with vascular malformations. We describe a rare, newly described syndrome with features of overgrowth and vascular malformations. PMID:25709171

  11. Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.

    PubMed

    Orme, Charisse M; Boyden, Lynn M; Choate, Keith A; Antaya, Richard J; King, Brett A

    2013-01-01

    Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation-arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition. PMID:23662773

  12. Baller-Gerold syndrome associated with congenital portal venous malformation.

    PubMed Central

    Savarirayan, R; Tomlinson, P; Thompson, E

    1998-01-01

    We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital abnormalities included midface hypoplasia, atrial and ventricular septal defects, right hydronephrosis, partial sacral agenesis, and anterior ectopic anus. Evidence of portal venous hypertension was present from 8 months and a congenital portal venous malformation was discovered at 2 years. This is the first reported case of Baller-Gerold syndrome associated with a congenital portal venous malformation. We discuss the diagnostic confusion between this syndrome and other overlapping malformation syndromes and propose optimal evaluation strategies aimed at clarifying the nosology of these syndromes. Images PMID:9733037

  13. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    PubMed

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (?2 or 3:1), is predominantly unilateral (?70-90%), and more often involves the right ear (?60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. PMID:26667631

  14. Malformations and the Manx Syndrome in Cats

    PubMed Central

    DeForest, M. E.; Basrur, P. K.

    1979-01-01

    Breeding experiments were conducted on cats with congenital taillessness, to test the dissemination pattern of taillessness in their offspring. Clinical evaluation, radiographic analysis of the vertebral column and histological studies of the digestive tract and central nervous tissue were conducted to determine the association of malformations of these systems in cats born with different degrees of taillessness noted in the rumpy and stumpy cats. The mode of transmission of the tailless (Manx) condition assumed to be through an autosomal dominant factor (M) was confirmed by this investigation. It is hypothesized that the problems associated with the tailless condition such as spina bifida, urinary and faecal incontinence and locomotor disturbances of the pelvic limbs may all be related to a disturbance affecting the development of the central nervous system in the early embryonic life. ImagesFigure 3.Figure 4.Figure 5.Figure 6.Figure 7.Figure 8.Figure 9.Figure 10. PMID:393376

  15. Goldenhar Syndrome Associated with Extensive Arterial Malformations

    PubMed Central

    Modica, Renee Frances; Barbeau, L. Daphna Yasova; Co-Vu, Jennifer; Beegle, Richard D.; Williams, Charles A.

    2015-01-01

    Goldenhar Syndrome is characterized by craniofacial, ocular and vertebral defects secondary to abnormal development of the 1st and 2nd branchial arches and vertebrae. Other findings include cardiac and vascular abnormalities. Though these associations are known, the specific anomalies are not well defined. We present a 7-month-old infant with intermittent respiratory distress that did not improve with respiratory interventions. Echocardiogram suggested a double aortic arch. Cardiac CT angiogram confirmed a right arch and aberrant, stenotic left subclavian artery, dilation of the main pulmonary artery, and agenesis of the left thyroid lobe. Repeat echocardiograms were concerning for severely dilated coronary arteries. Given dilation, a rheumatologic workup ensued, only identifying few weakly positive autoantibodies. Further imaging demonstrated narrowing of the aorta below the renal arteries and extending into the common iliac arteries and proximal femoral arteries. Given a physical exam devoid of rheumatologic findings, only weakly positive autoantibodies, normal inflammatory markers, and presence of the coronary artery dilation, the peripheral artery narrowings were not thought to be vasculitic. This case illustrates the need to identify definitive anomalies related to Goldenhar Syndrome. Although this infant's presentation is rare, recognition of specific vascular findings will help differentiate Goldenhar Syndrome from other disease processes. PMID:26688769

  16. Genetic Modifiers of the Physical Malformations in Velo-Cardio-Facial Syndrome/DiGeorge Syndrome

    ERIC Educational Resources Information Center

    Aggarwal, Vimla S.; Morrow, Bernice E.

    2008-01-01

    Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygous 3 million base pair deletion on 22q11.2. Studies in mouse have shown that "Tbx1", a…

  17. Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.

    PubMed

    Uysal, Berfin; Dönmez, Osman; Uysal, Fahrettin; Akac?, Okan; Vuru?kan, Berna Aytaç; Berdeli, Afig

    2015-02-01

    Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years. PMID:25711261

  18. [Epidermal nevus syndrome with multiple vascular hamartomas and malformations].

    PubMed

    Calzavara Pinton, P; Carlino, A; Manganoni, A M; Donzelli, C; Facchetti, F

    1990-06-01

    The authors described a 39 year old woman affected by epidermal nevus syndrome, with cutaneous (verrucous epidermal nevus), skeletal (thoracolumbar levoscoliosis and frontal bossing) and ocular (papillar coloboma and coroideal nevus) defects. Moreover the patient presented vascular malformations and hamartomas: lymphangioma circumscriptum of the mammary area, left peroneal Gorham's disease, artero-venous acral tumour of the left foot and multiple artero-venous shunts of the lower limbs. Since puberty, hemodynamic modifications have caused pseudo-Kaposi of Bluefarb-Stewart of legs and feet and malleolar painful ulcers. Solomon's epidermal nevus syndrome is an heterogeneous entity. In our opinion, this is the first case report with a severe vascular involvement. PMID:2279750

  19. Malformation syndromes caused by disorders of cholesterol synthesis

    PubMed Central

    Porter, Forbes D.; Herman, Gail E.

    2011-01-01

    Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome. PMID:20929975

  20. Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

    PubMed

    Siminas, Sotirios; Baillie, Colin Tennant; Turnock, Richard

    2015-06-01

    Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with "low" anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects. PMID:26171318

  1. Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment

    PubMed Central

    Siminas, Sotirios; Baillie, Colin Tennant; Turnock, Richard

    2015-01-01

    Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with “low” anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects. PMID:26171318

  2. A syndromal and an isolated form of uterine arteriovenous malformations: two case-reports.

    PubMed

    Geerinckx, I; Willemsen, W; Hanselaar, T

    2001-12-10

    Uterine arteriovenous malformations are rare lesions with a considerable risk potential. Clinical presentation varies from no signs over various degrees of menorrhagia to massive life threatening vaginal bleeding. This is the first report of congenital uterine arteriovenous malformations in two patients with primary infertility. In one case, the uterine lesions were found in conjunction with other congenital malformations suggesting the diagnosis of hemihyperplasia/lipomatosis syndrome. Etiology, symptoms, diagnostic and therapeutic work-up are discussed; pathological findings are illustrated. PMID:11728664

  3. Arteriovenous and lymphatic malformations, linear verrucous epidermal nevus and mild overgrowth: another hamartoneoplastic syndrome?

    PubMed

    Hennekam, R C; Kwa, V I; van Amerongen, A

    1999-04-01

    We report a 22 year old female presenting with slowly progressive paraparesis, who appeared to have many (mainly subcutaneous) hamartomas. The neurological symptoms were caused by intraspinal masses and arteriovenous malformations. In addition, she had mild overgrowth of one leg and lymph vessel malformations. This combination of symptoms resembles Proteus syndrome, but is different in symptomatology and progression and may be yet another hamartoneoplastic syndrome. PMID:10319199

  4. [Cognitive and affective characteristics of children with malformation syndrome].

    PubMed

    Tosi, B; Maestro, S; Marcheschi, M

    1995-10-01

    The aim of this paper is to study the psychological and relational aspects in children suffering from specific malformative syndrome and precisely Down s., Sotos s., X-Fragile s. and Williams s. Indeed literature provides much data related to the phenotype, to the organic-biological characteristics, but little or nothing is known about the affective structure, the episodes and to the particular dynamics that emerge in he relation between the parents and the malformed child. A protocol was applied to our sample group (16 subjects). This protocol includes laboratory and instrumental tests (chromosome test, neurometabolic screening, EEG, CT or cranial MRI, cardiac and abdominal ultrasonography, ear and eye test) aspects. This evaluation is carried out through the proposal of standardized situations (psychometric tests) and a use of a freer observational setting. This permits us to understand how the child perceives himself the awareness and the image he has of himself and how able he is to integrate his illness experiences and his way of relating with the environment. The data of our observations are thus used to compile a grill for the structural diagnosis of the personality. Besides, this evaluation is flanked by the observation of the family in order to explore the psychological image that parents have of their child, his character, his good points, his bad points, his similarities, how he relates to them, any educational problems and the emotional reaction that the communication of the diagnosis has raised in them. The videotaped observations are subsequently evaluated through the application of a grill for the study of the mother-child relationship. The results obtained from the psychological research underline a reasonable heterogeneity both of the intellectual level and of the metapsychological profile. Twelve subjects were mentally retarded (5 with mild mental retardation, 7 with moderate mental retardation); the remaining 4 had a normal cognitive development (3 with Sotos s., 1 with Williams s.). Psychological disturbances are present and thus divided: light disturbances (affective immaturity, neurotic-depressive organisation) in 11 subjects. Average disturbances (dysharmonious structure, and borderline personality) in 4 subjects; severe disturbances (psychosis) in 1 subject. Besides, above all in the group of subjects with X-Fragile s. and Down s., the tendency to assume behaviour of a regressive type, also postural, emerges. Among the 4 groups it is frequent to resort to defence mechanisms of hypomaniac type, accompanied by the denial of the patient's "sick parts". Another common characteristic concerns the quality of imaginary life which is shown to be repetitive and stereotype in content. Indeed these children's play activity characterized by a limited capacity of symbolization. Instead, when the symbolic process is more developed, contents concerning a deteriorated and destructive image of the Self emerges. Through the evaluation of family dynamics what is more noticeable is that the parent-malformed child interaction appears to be quite nonstimulating and noninvolving or incoherent, lacking in harmony and empathy towards the child's inner world. Indeed we can notice a lack of both verbal and extraverbal exchange of communication and brief interactive sequences which do not usually take into account the child's proposals and an affective tonality of depressive and nonaffective type. Therefore it may be concluded a certain smoothness in the clinical expression of the syndromes considered, both as far as the cognitive deficit entity and the psychic problems are concerned. Referring to the interactive dynamics between parents and children with dismorphic syndrom it seems that the child's pathology becomes the organizational summit of the above-mentioned relational dynamics among most of the patients examined... PMID:8569638

  5. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Lin, A.E.; Ardinger, H.H.; Ardinger, R.H. Jr.

    1997-01-31

    We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class I (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (26.3%) class IV (abnormal extracellular matrix), and 5 (5.3%) class V (abnormal targeted growth). Comparing the frequencies of individual CVMs in this series with a control group (the Baltimore-Washington Infant Study), there were 6 individual CVMs which showed a significant difference from expected values. When frequencies of CVMs in SLOS were analyzed by mechanistic class, classes IV and V were significantly more frequent, and class I significantly less frequent, than the control group. Although CVMs in SLOS display mechanistic heterogeneity, with an overall predominance of class II CVMs, the developmental error appears to favor alteration of the cardiovascular developmental mechanisms underlying atrioventricular canal and anomalous pulmonary venous return. This information should assist the clinical geneticist evaluating a patient with possible SLOS, and should suggest research direction for the mechanisms responsible for the SLOS phenotype. 102 refs., 1 fig., 7 tabs.

  6. Turner syndrome with spinal hemorrhage due to vascular malformation

    PubMed Central

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Kim, Duk Hee; Kim, Ho-Seong

    2015-01-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS. PMID:26817012

  7. Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)

    PubMed Central

    2012-01-01

    Background The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex – associated Malformation classification system (VCUAM). Methods 290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy. Results Classification of female genital malformation according to the Vagina Cervix Uterus Adnex – associated Malformation classification system was possible in 284 women (97.9%). Complete atresia of Vagina (V5b) and bilateral atresia of Cervix (C2b) were found in 284 patients (100%). Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%). Adnexa: normal Adnexa were found in 248 women (87.3%). Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%), 84 women (29.6%) had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7%) could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8%) diagnosed in 133 of 284 women. Conclusions Complete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities. PMID:22906151

  8. Genetics Home Reference: Megalencephaly-capillary malformation syndrome

    MedlinePLUS

    ... these can include excess fluid within the brain (hydrocephalus) and abnormalities in the brain's structure, such as ... cell ; cell proliferation ; cM ; cutaneous ; disability ; enzyme ; gene ; hydrocephalus ; hypotonia ; inherited ; kidney ; kinase ; macrocephaly ; malformation ; megalencephaly ; mosaicism ; ...

  9. Genetics Home Reference: Microcephaly-capillary malformation syndrome

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    ... proper balance of protein production and breakdown (protein homeostasis) that cells need to function and survive. Studies ... cell ; degrade ; developmental delay ; egg ; endocytosis ; epilepsy ; gene ; homeostasis ; inheritance ; inherited ; malformation ; microcephaly ; myoclonus ; pattern of inheritance ; ...

  10. Vascular malformation and choroid plexus adrenal heterotopia: new findings in Beckwith-Wiedemann syndrome?

    PubMed

    Drut, Ricardo; Quijano, Graciela; Altamirano, María Eugenia; Jones, Marta C; Maffessoli, Orlando B

    2006-01-01

    Large congenital arteriovenous malformations (AVM) may result in heart failure and death. We are reporting such combination with the AVM localized to the right thoracobrachial region. Remarkable postmortem findings included right renal and adrenal hemihyperplasia; the right adrenal fetal cortex presenting cytomegaly, endocrine pancreas hyperplasia, and heterotopic adrenal cortex with cytomegaly in the left lateral ventricle choroids plexus. The combination appears to be unique. The only previously reported example of adrenal cortex in the choroid plexus presented several features strongly suggestive of Beckwith-Wiedemann syndrome. Therefore, we postulate that additional uncommon findings in Beckwith-Wiedemann syndrome may include arteriovenous malformations and heterotopic adrenal tissue in choroids plexus. PMID:17162526

  11. Bilateral perisylvian syndrome not related to malformations: report of two cases.

    PubMed

    Grasel, R P; Carvalho Neto, A; Bruck, I; Antoniuk, S A

    1996-06-01

    In this case report we present the neuroimaging findings and clinical features of two patients with a bilateral perisylvian syndrome not related to malformations, but probably to ischemic etiology. Evaluations including history, general and neurologic examinations, electroencephalograms, and imaging data were reviewed as recent literature about the subject. PMID:8984989

  12. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

    PubMed

    Bourchany, A; Giurgea, I; Thevenon, J; Goldenberg, A; Morin, G; Bremond-Gignac, D; Paillot, C; Lafontaine, P O; Thouvenin, D; Massy, J; Duncombe, A; Thauvin-Robinet, C; Masurel-Paulet, A; Chehadeh, S El; Huet, F; Bron, A; Creuzot-Garcher, C; Lyonnet, S; Faivre, L

    2015-07-01

    Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. PMID:25899569

  13. Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome)

    PubMed Central

    Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata

    2014-01-01

    Patient: Female, 6 Final Diagnosis: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: — Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Congenital defects Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. Case Report: We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). Conclusions: Disturbed articulation was diagnosed: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed. PMID:24478819

  14. Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations

    PubMed Central

    Sirisena, Nirmala D.; Wijetunge, U. Kalpani S.; de Silva, Ramya; Dissanayake, Vajira H. W.

    2013-01-01

    A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22?pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22?pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome. PMID:23984121

  15. Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

    PubMed

    Jedraszak, Guillaume; Braun, Karine; Receveur, Aline; Decamp, Matthieu; Andrieux, Joris; Rabbind Singh, Amrathlal; Copin, Henri; Bremond-Gignac, Dominique; Mathieu, Michèle; Rochette, Jacques; Morin, Gilles

    2015-10-01

    Growth hormone deficiency affects roughly between one in 3000 and one in 4000 children with most instances of growth hormone deficiency being idiopathic. Growth hormone deficiency can also be associated with genetic diseases or chromosome abnormalities. Association of growth hormone deficiency together with hypothalamic-pituitary axis malformation and Cat-Eye syndrome is a very rare condition. We report a family with two brothers presenting with growth delay due to a growth hormone deficiency associated with a polymalformation syndrome. They both displayed pre-auricular pits and tags, imperforate anus and Duane retraction syndrome. Both parents and a third unaffected son displayed normal growth pattern. Cerebral MRI showed a hypothalamic-pituitary axis malformation in the two affected brothers. Cytogenetic studies revealed a type I small supernumerary marker chromosome derived from chromosome 22 resulting in a tetrasomy 22pter-22q11.21 characteristic of the Cat-Eye syndrome. The small supernumerary marker chromosome was present in the two affected sons and the mother in a mosaic state. Patients with short stature due to growth hormone deficiency should be evaluated for chromosomal abnormality. Family study should not be underestimated. PMID:26518262

  16. Fragile X syndrome in two siblings with major congenital malformations

    SciTech Connect

    Giampietro, P.F.; Haas, B.R.; Lipper, E.

    1996-05-17

    We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2{1/2}, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolution chromosome analysis showed a 46,XY chromosome constitution in both siblings. By PCR and Southern blot analysis, the siblings were found to have large triplet repeat expansions in the fragile X gene (FMR 1) and both had methylation mosaicism. Enzyme kinetic studies of iduronate sulfatase demonstrated a two-fold increase in activity in the first sib as compared to the second. Possible mechanisms through which the fragile X mutation can cause down-regulation of adjacent loci are discussed. 24 refs., 4 figs.

  17. Ear malformation and hearing loss in patients with Treacher Collins syndrome.

    PubMed

    Pron, G; Galloway, C; Armstrong, D; Posnick, J

    1993-01-01

    Although the hearing loss of patients with Treacher Collins syndrome is well documented, few studies have reported jointly on their hearing loss and ear pathology. This paper reports on the hearing loss and computerized tomography (CT) assessments of ear malformations in a large pediatric series of patients with Treacher Collins. Of the 29 subjects assessed by the Craniofacial Program between 1986 and 1990, paired audiologic and complete CT assessments were available for 23 subjects. The external ear canal abnormalities were largely symmetric, either bilaterally stenotic or atretic. In most cases, the middle ear cavity was bilaterally hypoplastic and dysmorphic, and ossicles were symmetrically dysmorphic or missing. Inner ear structures were normal in all patients. The majority of patients had a unilateral or bilateral moderate or greater degree of hearing loss and almost half had an asymmetric hearing loss. The hearing loss of all subjects was conductive, except for three whose loss was bilateral mixed. Two types of bilaterally symmetric hearing loss configurations, flat and reverse sloping, were noted. Conductive hearing loss in patients with Treacher Collins is mainly attributable to their middle ear malformations, which are similar for those of patients with malformed or missing ossicles. PMID:8418881

  18. CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder

    PubMed Central

    Gucev, Zoran S.; Tasic, Velibor; Jancevska, Aleksandra; Konstantinova, Marina Krstevska; Pop-Jordanova, Nada; Trajkovski, Zoran; Biesecker, Leslie G.

    2010-01-01

    A newborn girl was found to have a massive lymphatic truncal vascular malformation with overlying cutaneous venous anomaly associated with overgrown feet and splayed toes. These manifestations comprise the recently described CLOVE syndrome. She also had cranial asymmetry and developed generalized seizures, which were treated with anticonvulsants. Cranial CT showed encephalomalacia, widening of the ventricles and the sulci, hemimegalencephaly (predominantly white matter) and partial agenesis of corpus callosum. Review of the literature identified several other patients with CLOVE syndrome, some of whom were misdiagnosed as having Proteus syndrome, with strikingly similar manifestations. We conclude that CNS manifestations including hemimegalencephaly, dysgenesis of the corpus callosum, neuronal migration defects, and the consequent seizures, may be a more common manifestation of CLOVE syndrome than is presently appreciated. PMID:18816642

  19. Chiari malformation and central sleep apnea syndrome: efficacy of treatment with adaptive servo-ventilation*

    PubMed Central

    do Vale, Jorge Marques; Silva, Eloísa; Pereira, Isabel Gil; Marques, Catarina; Sanchez-Serrano, Amparo; Torres, António Simões

    2014-01-01

    The Chiari malformation type I (CM-I) has been associated with sleep-disordered breathing, especially central sleep apnea syndrome. We report the case of a 44-year-old female with CM-I who was referred to our sleep laboratory for suspected sleep apnea. The patient had undergone decompressive surgery 3 years prior. An arterial blood gas analysis showed hypercapnia. Polysomnography showed a respiratory disturbance index of 108 events/h, and all were central apnea events. Treatment with adaptive servo-ventilation was initiated, and central apnea was resolved. This report demonstrates the efficacy of servo-ventilation in the treatment of central sleep apnea syndrome associated with alveolar hypoventilation in a CM-I patient with a history of decompressive surgery. PMID:25410846

  20. Split Cord Malformation Combined with Tethered Cord Syndrome in an Adult

    PubMed Central

    Kim, Young Deok; Sung, Ji Hoon; Lee, Sang Won

    2013-01-01

    Split cord malformations (SCMs) usually present in childhood, and are rarely reported in adults. And also, a cervicothoracic SCM associated with tethered cord syndrome has very rarely been reported in the literature. We report a case of SCM associated with tethered cord and spina bifida in an adult. This report describes the case of a 34-year-old woman who presented for evaluation of neck pain, back pain, and intermittent paraparesis of several months duration. The MRI and CT showed a SCM at the cervicothoracic level and a fibrous septum at the thoracic level. She underwent surgery for the SCM and tethered cord syndrome, and was followed for 7 years. Patient presented complete recovery in the follow-up. The authors discuss this unusual lesion and describe the anatomical relationship of the level of cord duplication and fibrous septum. PMID:24294465

  1. Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis.

    PubMed

    Thomas, Mark; Salpietro, Vincenzo; Canham, Natalie; Ruggieri, Martino; Phadke, Rahul; Kinali, Maria

    2015-04-01

    Mitochondrial DNA depletion syndromes are an important cause of mitochondrial cytopathies in both children and adults. We describe a newborn with multiple congenital malformations including a right aberrant subclavian artery and a trachea-oesophageal fistula in whom mitochondrial depletion syndrome was unmasked by perioperative muscle relaxation. After vecuronium infusion, the infant developed an irreversible postoperative paralysis, leading to death 32 days after surgery. The present case highlights (a) the clinical heterogeneity of mitochondrial depletion syndrome; (b) the importance of rigorous antemortem and postmortem investigations when the cause of a severe myopathy is uncertain; (c) the possible coexistence of mitochondrial depletion syndrome and congenital malformations as a result of a likely abnormal antenatal embryofetal development and (d) the importance of a careful anaesthetic management of children with mitochondrial depletion syndrome, which could be prone to complications related to the possible depressive effects on mitochondrial electron transport chain mediated by some anaesthetic agents. PMID:24789116

  2. Lymphatic Malformation, Retinoblastoma, or Facial Cleft: Atypical Presentations of PHACE Syndrome

    PubMed Central

    Fernández-Ibieta, María; López-Gutiérrez, Juan Carlos

    2015-01-01

    PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies: posterior fossa brain malformation, hemangioma, arterial cerebrovascular anomalies, coarctation of the aorta and cardiac defects, and eye/endocrine abnormalities of the brain. When ventral developmental defects (sternal clefting or supraumbilical raphe) are present the condition is termed PHACE. In this report, we describe three PHACE cases that presented unique features (affecting one of the organ systems described for this syndrome) that have not been described previously. In the first case, a definitive PHACE association, the patient presented with an ipsilateral mesenteric lymphatic malformation, at the age of 14 years. In the second case, an anomaly of the posterior segment of the eye, not mentioned before in PHACE literature, a retinoblastoma, has been described. Specific chemotherapy avoided enucleation. And, in the third case, the child presented with an unusual midline frontal bone cleft, corresponding to Tessier 14 cleft. Two patients' hemangiomas responded well to propranolol therapy. The first one was followed and treated in the pre-propranolol era and had a moderate response to corticoids and interferon. PMID:26221546

  3. Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

    PubMed Central

    Revencu, N.; Boon, L.M.; Dompmartin, A.; Rieu, P.; Busch, W.L.; Dubois, J.; Forzano, F.; van Hagen, J.M.; Halbach, S.; Kuechler, A.; Lachmeijer, A.M.A.; Lähde, J.; Russell, L.; Simola, K.O.J.; Mulliken, J.B.; Vikkula, M.

    2013-01-01

    The RASA1 gene encodes p120RASGAP, a multidomain cytoplasmic protein that acts as a negative regulator of the RAS signalling pathway. Heterozygous loss-of-function RASA1 mutations were identified in patients with Parkes Weber syndrome and multifocal capillary malformations. This syndrome is characterised by a capillary blush on an extremity, arteriovenous microfistulas, and bony and soft tissue hypertrophy. The aim of this study was to test RASA1 in 2 disorders characterised by asymmetric limb enlargement and vascular malformations, namely Klippel-Trenaunay syndrome and regional capillary malformation with overgrowth. We did not identify any clear pathogenic change in these patients. Thus, besides clinical and radiological criteria, RASA1 testing constitutes an additional tool to differentiate Parkes Weber syndrome of capillary malformation-arteriovenous malformation (CM-AVM) from overlapping disorders. PMID:23801933

  4. A novel syndrome of lethal familial hyperekplexia associated with brain malformation

    PubMed Central

    2012-01-01

    Background Hyperekplexia (HPX) is a rare non-epileptic disorder manifesting immediately after birth with exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, and non-habituating generalized flexor spasm in response to tapping of the nasal bridge (glabellar tap) which forms its clinical hallmark. The course of the disease is usually benign with spontaneous amelioration with age. The disorder results from aberrant glycinergic neurotransmission, and several mutations were reported in the genes encoding glycine receptor (GlyR) ?1 and ? subunits, glycine transporter GlyT2 as well as two other proteins involved in glycinergic neurotransmission gephyrin and collybistin. Methods The phenotype of six newborns, belonging to Saudi Arabian kindred with close consanguineous marriages, who presented with hyperekplexia associated with severe brain malformation, is described. DNA samples were available from two patients, and homozygosity scan to determine overlap with known hyperkplexia genes was performed. Results The kindred consisted of two brothers married to their cousin sisters, each with three affected children who presented antenatally with excessive fetal movements. Postnatally, they were found to have microcephaly, severe hyperekplexia and gross brain malformation characterized by severe simplified gyral pattern and cerebellar underdevelopment. The EEG was normal and they responded to clonazepam. All of the six patients died within six weeks. Laboratory investigations, including metabolic screen, were unremarkable. None of the known hyperkplexia genes were present within the overlapping regions of homozygosity between the two patients for whom DNA samples were available. Conclusions We present these cases as a novel syndrome of lethal familial autosomal recessive hyperekplexia associated with microcephaly and severe brain malformation. PMID:23101555

  5. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

    PubMed

    Pavone, Piero; Praticò, Andrea D; Falsaperla, Raffaele; Ruggieri, Martino; Zollino, Marcella; Corsello, Giovanni; Neri, Giovanni

    2015-01-01

    Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported. PMID:26242548

  6. Posterior reversible encephalopathy syndrome in a patient with a Chiari I malformation

    PubMed Central

    Hansberry, David R.; Agarwal, Nitin; Tomei, Krystal L.; Goldstein, Ira M.

    2013-01-01

    Background: The authors describe a unique case of a patient who developed posterior reversible encephalopathy syndrome (PRES) following postoperative treatment of a Chiari I malformation. Case Decsription: A 25-year-old female presented with complaints of left upper and lower extremity paresthesias and gait disturbances. A magnetic resonance imaging (MRI) of the brain and cervical spine showed a Chiari I malformation with tonsillar descent beyond the level of the C1 lamina. She underwent a suboccipital craniectomy and C1 laminectomy with cerebellar tonsillar cauterization and duraplasty. Postoperatively, an MRI showed bilateral acute infarcts of the cerebellar vermis. She was initially treated for cerebellar ischemia with hypertensive therapy with a subsequent decline in her neurologic status and generalized tonic–clonic seizure. Further workup showed evidence of PRES. After weaning pressors, the patient had a significant progressive improvement in her mental status. Conclusion: Although the mechanism of PRES remains controversial given its diverse clinical presentation, several theories implicate hypertension and steroid use as causative agents. PMID:24232171

  7. Spinal cord detethering in children with tethered cord syndrome and Chiari type 1 malformations.

    PubMed

    Glenn, Chad; Cheema, Ahmed A; Safavi-Abbasi, Sam; Gross, Naina L; Martin, Michael D; Mapstone, Timothy B

    2015-11-01

    We discuss the association between tethered cord syndrome (TCS) and Chiari type 1 malformation (CM1), and report on the surgical outcomes of children with CM1 and TCS who underwent sectioning of the filum terminale (SFT). The relationship between TCS and CM1 is unclear. A retrospective review of 170 consecutive spinal cord detetherings between 2008 and 2012 was performed. We identified 17 children with CM1 who underwent SFT. Information regarding clinical presentation, radiographic findings, surgical procedures, and clinical outcomes was analyzed. A mean tonsillar herniation of 10.0mm (range: 5-21) was noted. Children with a fatty or thickened filum terminale demonstrated a greater amount of tonsillar displacement (p<0.005). A low conus medullaris was found in 12 children and a syrinx was present in three. The preoperative symptoms improved in all children. The postoperative MRI (mean 21.8 months) revealed an unchanged tonsillar position in all but one child. No worsening of neurologic function was noted. Pediatric patients who have both CM1 and TCS, but do not demonstrate classic Chiari-related symptoms, may experience symptomatic improvement after filum terminale sectioning. PMID:26165471

  8. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

    PubMed Central

    King, M D; Dudgeon, J; Stephenson, J B

    1984-01-01

    Five children with features of Joubert's syndrome and Leber's amaurosis are described. The presenting symptoms were panting tachypnoea in the newborn, prolonged apnoeic attacks in the neonatal period (in both of identical twins), global developmental delay, and failure to develop vision. Three children had multiple hemifacial spasms, such as have been seen in Joubert's syndrome, and the same three had cystic dysplasia of the kidneys. Necropsy confirmed the retinal and renal pathology, together with agenesis of the vermis and brainstem dysgenesis in the identical twins. It is concluded that a gene for Leber's amaurosis may commonly manifest itself as the specific hind brain malformation underlying Joubert's syndrome. In infants with respiratory irregularities (especially rapid panting), hemifacial spasms, or developmental delay, absence of the cerebellar vermis should be specifically sought by ultrasound and computed tomography, and the electroretinogram measured, whether or not impaired vision is clinically evident. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 Fig. 6 Fig. 7 PMID:6476867

  9. Diffuse Venous Malformation of the Uterus in a Pregnant Woman with Klippel-Trénaunay Syndrome Diagnosed by DCE-MRI

    PubMed Central

    Yara, Nana; Masamoto, Hitoshi; Iraha, Yuko; Wakayama, Akihiko; Chinen, Yukiko; Nitta, Hayase; Kinjo, Tadatsugu

    2016-01-01

    Background. We experienced a rare case of a pregnant woman with Klippel-Trénaunay syndrome complicated with diffuse venous malformation of the uterus. This is the first report on the usefulness of dynamic contrast-enhanced-MRI for the diagnosis of diffuse venous malformation of the uterus. Case Presentation. A 23-year-old woman presented with convulsions and talipes equinus position of both lower limbs at 11 weeks of gestation. At 27 weeks, ultrasonography demonstrated tubular echolucent spaces throughout the myometrium. Dynamic MRI at 37 weeks revealed that the myometrial lesion was enhanced slowly and showed homogeneous enhancement even on a 10 min delayed image. Taken together with unilateral foot hypertrophy, varices, and port-wine stain, the patient was diagnosed as having Klippel-Trénaunay syndrome complicated with diffuse venous malformation of the pregnant uterus. The patient underwent elective cesarean section because of severe dystonia. The lower uterine segment was thickened and heavy venous blood flow was observed at the incision. Histological diagnosis of the myometrial biopsy specimen was venous malformation. Conclusions. Both diffuse venous malformation and Klippel-Trénaunay syndrome during pregnancy can involve considerable complications, in particular, massive bleeding during labor. Women who suffer from this syndrome should be advised about the risk of complications of pregnancy. PMID:27006845

  10. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.

    PubMed

    Quintero-Rivera, Fabiola; Woo, Jennifer S; Bomberg, Eric M; Wallace, W Dean; Peredo, Jane; Dipple, Katrina M

    2014-12-01

    Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four-year-old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the HNF1B (hepatocyte nuclear factor beta). It is hypothesized that HNF1B may play a role in intestinal differentiation and development. Our clinical report further expands the pre-and post-natal presentation of this rare microdeletion syndrome. PMID:25256560

  11. CHD7 Deficiency in “Looper”, a New Mouse Model of CHARGE Syndrome, Results in Ossicle Malformation, Otosclerosis and Hearing Impairment

    PubMed Central

    Ogier, Jacqueline M.; Carpinelli, Marina R.; Arhatari, Benedicta D.; Symons, R. C. Andrew; Kile, Benjamin T.; Burt, Rachel A.

    2014-01-01

    CHARGE syndrome is a rare human disorder caused by mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7). Characteristics of CHARGE are varied and include developmental ear and hearing anomalies. Here we report a novel mouse model of CHD7 dysfunction, termed Looper. The Looper strain harbours a nonsense mutation (c.5690C>A, p.S1897X) within the Chd7 gene. Looper mice exhibit many of the clinical features of the human syndrome, consistent with previously reported CHARGE models, including growth retardation, facial asymmetry, vestibular defects, eye anomalies, hyperactivity, ossicle malformation, hearing loss and vestibular dysfunction. Looper mice display an otosclerosis-like fusion of the stapes footplate to the cochlear oval window and blepharoconjunctivitis but not coloboma. Looper mice are hyperactive and have vestibular dysfunction but do not display motor impairment. PMID:24840056

  12. A FETAL RAT TESTIS ENDOCRINE AND GENOMIC "SIGNATURE"ACCURATELY PREDICTS THE PHTHALATE SYNDROME OF MALFORMATIONS.

    EPA Science Inventory

    ABSTRACT BODY: Phthalate esters (PE) vary greatly in their potency to induce malformations during sexual differentiation in the male rat. Since in vitro assay batteries are currently unable to generate useful information on the potential of chemicals within this class to disrupt ...

  13. Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome.

    PubMed

    McDermott, John H; Byers, Helen; Clayton-Smith, Jill

    2016-01-01

    The megalencephaly capillary malformation syndrome (MCAP, OMIM 602501) is known to be associated with mosaic mutations in PIK3CA occurring during embryogenesis. Standard sequencing technologies are relatively poor at indentifying sequence changes that only affect a small percentage of cells, and the mutations are frequently not identified in lymphocyte DNA, with biopsies of the affected tissues often being required to detect mosaic mutations. Such invasive procedures are not always acceptable to parents. We describe the case of a patient in whom we were able to confirm a causative PIK3CA mutation, first found thorugh next-generation sequencing, in several tissue types including a secondary tooth. As part of this work, we were also able to begin validating dental tissue for potential use in genetic testing, as we achieved excellent DNA yields with minimal effort, even from deciduous teeth shed some years earlier. PMID:26351730

  14. Genetics Home Reference: Parkes Weber syndrome

    MedlinePLUS

    ... that occur in a condition called capillary malformation-arteriovenous malformation syndrome (CM-AVM). CM-AVM and some cases ... same genetic cause. Read more about capillary malformation-arteriovenous malformation syndrome . How common is Parkes Weber syndrome? Parkes ...

  15. Cardiorenal Syndrome is Present in Human Fetuses with Severe, Isolated Urinary Tract Malformations

    PubMed Central

    Merz, Waltraut M.; Kübler, Kirsten; Fimmers, Rolf; Willruth, Arne; Stoffel-Wagner, Birgit; Gembruch, Ulrich

    2013-01-01

    Objective We analyzed the association between renal and cardiovascular parameters in fetuses with isolated severe urinary tract malformations. Methods 39 fetuses at a mean gestational age of 23.6 weeks with nephropathies or urinary tract malformations and markedly impaired or absent renal function were prospectively examined. Fetal echocardiography was performed, and thicknesses of the interventricular septum, and left and right ventricular wall were measured. Blood flow velocity waveforms of the umbilical artery, middle cerebral artery, and ductus venosus were obtained by color Doppler ultrasound. Concentrations of circulating n-terminal pro-B-type natriuretic peptide (nt-proBNP), cystatin C, ß2-microglobulin, and hemoglobin were determined from fetal blood samples. Results Malformations included 21 cases of obstructive uropathy, 10 fetuses with bilateral nephropathy, and 8 cases of bilateral renal agenesis. Marked biventricular myocardial hypertrophy was present in all cases. The ratio between measured and gestational age-adjusted normal values was 2.01 (interventricular septum), 1.85, and 1.78 (right and left ventricular wall, respectively). Compared to controls, levels of circulating nt-proBNP were significantly increased (median (IQR) 5035 ng/L (5936 ng/L) vs. 1874 ng/L (1092 ng/L); p<0.001). Cystatin C and ß2-microglobulin concentrations were elevated as follows (mean ± SD) 1.85±0.391 mg/L and 8.44±2.423 mg/L, respectively (normal range 1.66±0.202 mg/L and 4.25±0.734 mg/L, respectively). No correlation was detected between cardiovascular parameters and urinary tract morphology and function. Despite increased levels of nt-proBNP cardiovascular function was preserved, with normal fetal Doppler indices in 90.2% of cases. Conclusion Urinary tract malformations resulting in severe renal impairment are associated with biventricular myocardial hypertrophy and elevated concentrations of circulating nt-proBNP during fetal life. Cardiovascular findings do not correlate with kidney function or morphology. PMID:23717461

  16. Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes

    SciTech Connect

    Dincsoy, M.Y.; Salih, M.A.M.; Al-Jurayyan, N.

    1995-04-10

    We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome. 20 refs., 4 figs., 1 tab.

  17. Broad Spectrum of Skeletal Malformation Complex in Patients with Cleidocranial Dysplasia Syndrome: Radiographic and Tomographic Study

    PubMed Central

    Al Kaissi, Ali; Ben Chehida, Farid; Kenis, Vladimir; Ganger, Rudolf; Radler, Christof; Hofstaetter, Jochen G.; Klaushofer, Klaus; Grill, Franz

    2013-01-01

    Purpose Cleidocranial dysplasia is an autosomal dominant disorder characterized by defective ossification of the intramembraneous ossification (primarily the clavicles, cranium, and pelvis), and it is caused by mutations in the RUNX2 gene that is responsible for osteoblast differentiation. Spine deformities were of progressive nature and considered to be the major orthopedic abnormalities encountered in our practice in patients with cleidocranial dysplasia. We aimed to further delineate the underlying spine pathology and its etiological understanding. Extraspinal deformities were dealt with respectively. Material and methods In this paper, we describe 7 patients who were consistent with the phenotypic and the genotypic characterization of cleidocranial dysplasia. Reformatted computed tomography (CT) scans have been applied in several instances to further understand the underlying pathology of progressive spine tilting. Radiographs were sufficient to illustrate other skeletal malformations. Results Anatomical survey demonstrates that a broad spectrum of frequently unrecognized orthopedic aberrations were encountered. We believe that torticollis has evolved in connection with the persistence of synchondrosis of the skull base and the upper cervical spine and these are strongly correlated to the well-known pathology of posterior occipital synchondrosis. Similarly, scoliosis and kyphoscoliosis resulted from the pathologic aberration of the cartilaginous stage of disrupted embryological development. All our results are discussed for the first time. Coxa vara, patellar dysplasia, and genu valgum were observed as extraspinal deformities. Conclusion This paper includes for the first time the anatomical analysis of the malformation complex of the craniocervical and the entire spine in patients with cleidocranial dysplasia. Reformatted CT scan was the modality of choice. We were able to illustrate that the persistence of skull base and the cervical spine synchondrosis were correlated with the pathological mechanism of the posterior occipital synchondrosis. Therefore, injuries to the craniocervical region in these patients might lead to a wide range of dreadful complications, ranging from complete atlanto-occipital or atlanto-axial dislocation to nondisplaced occipital condyle avulsion fractures with the possibility of morbid and or mortal outcome. On the other hand, the persistence of a cartilaginous spine was the reason behind the progressive spine tilting. This pathological form can be considered as a notoriously unpredictable malformation complex. The value of presenting these patients is to demonsterate that the genotype is not a precise index to assess the severity and the natural history of the phenotype. PMID:24023524

  18. Chiari Malformation

    MedlinePLUS

    ... Conditions - Chiari Malformation Chiari Malformation (kee-AR-ee) Audio clip: Adobe Flash Player (version 9 or above) is required to play this audio clip. Download the latest version here . You also ...

  19. Amphibian malformations

    USGS Publications Warehouse

    National Wildlife Health Center

    1998-01-01

    Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.

  20. Syndrome of absent abdominal muscles: two cases with microcephaly, polymicrogyria, and cerebellar malformations

    PubMed Central

    Heffner, Reid R.

    1970-01-01

    Two unique cases of the syndrome of absent abdominal muscles with central nervous system involvement are presented. Microcephaly, polymicrogyria, and cerebellar heterotopiae were present in both. In case 1 there was also absence of the corpus callosum and agenesis of the cerebellar vermis. In case 2 a count of anterior horn cells in the spinal cord showed a reduction of approximately 50% in the lower thoracic region. The pertinent literature is briefly discussed. The findings in the nervous system suggest that the syndrome is the result of defective embryogenesis during the first trimester. Images PMID:4250700

  1. Potential Pitfalls on the (99m)Tc-Mebrofenin Hepatobiliary Scintigraphy in a Patient with Biliary Atresia Splenic Malformation Syndrome.

    PubMed

    Maestri Brittain, Jane; Borgwardt, Lise

    2016-01-01

    Biliary atresia (BA) is an obliterative cholangiopathy affecting 1:10.000-14.000 of newborns. Infants with Biliary Atresia Splenic Malformation syndrome (BASM) are a subgroup of BA patients with additional congenital anomalies. Untreated the disease will result in fatal liver failure within the first years of life. Kasai portoenterostomy restores bile flow and delay the progressive liver damage thereby postponing liver transplantation. An early diagnosis is of most importance to ensure the effectiveness of the operation. The (99m)Tc-Mebrofenin hepatobiliary scintigraphy is part of the diagnostic strategy when an infant presents jaundice due to conjugated hyperbilirubinemia (>20 µmol/L total bilirubin of which 20% is conjugated) with its high sensitivity of 97%-100% in refuting BA. Rapid extraction of tracer by the liver and no visible tracer in the small bowl after 24 h is indicative of BA. Laparotomy with antegrade cholangiography is then performed giving the final diagnosis when the remains of the obliterated biliary tree are revealed in the case of BA. We present a case demonstrating some of the challenges of interpreting the (99m)Tc-Mebrofenin hepatobiliary scintigraphy in an infant with BASM and stress the importance that the (99m)Tc-Mebrofenin hepatobiliary scintigraphy is part of a spectrum of imaging modalities in diagnosing BA. PMID:26838802

  2. Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

    PubMed Central

    Catela, Catarina; Bilbao-Cortes, Daniel; Slonimsky, Esfir; Kratsios, Paschalis; Rosenthal, Nadia; te Welscher, Pascal

    2009-01-01

    SUMMARY Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. Fgfrl1 null mutants also display a transient foetal anaemia and a fully penetrant diaphragm defect, causing prenatal and perinatal lethality. Together, these data support a wider role for Fgfrl1 in development, implicate FGFRL1 insufficiency in WHS, and provide a novel animal model to dissect the complex aetiology of this human disease. PMID:19383940

  3. Cadaveric liver transplantation in biliary atresia splenic malformation syndrome with the absence of retrohepatic inferior vena cava, preduodenal portal vein, and intestinal malrotation: a case report.

    PubMed

    Sen-Oran, E; Yankol, Y; Tuzun, B; Kocak, B; Kanmaz, T; Acarli, K; Kalayoglu, M

    2008-01-01

    A 9-month-old female infant with biliary atresia underwent cadaveric liver transplantation due to progressive cholestatic hepatitis following a Kasai operation. She had biliary atresia splenic malformation syndrome (BASM) composed of an absent retrohepatic inferior vena cava with an azygous connection, preduodenal portal vein, polysplenia, and intestinal malrotation. A portal vein thrombosis developed on the 4th postoperative day requiring immediate treatment by thrombectomy. The patient is well with normal liver function at 3 months follow-up. Although BASM may render the transplantation more difficult, the presence of BASM is no longer a contraindication to liver transplantation. PMID:18261615

  4. Chiari Malformation

    MedlinePLUS

    ... NINDS Funding Information Research Programs Training & Career Awards Enhancing Diversity Find People About NINDS NINDS Chiari Malformation ... Funding | News From NINDS | Find People | Training | Research | Enhancing Diversity Careers@NINDS | FOIA | Accessibility Policy | Contact Us | ...

  5. Arteriovenous Malformation

    MedlinePLUS

    ... malformations. Other NINDS-funded investigators hope to develop biomarkers (signs that may indicate risk of a disease) ... Worldwide NINDS Clinical Trials Organizations Column1 Column2 Brain Aneurysm Foundation 269 Hanover Street, Building 3 Hanover, MA ...

  6. Brain Malformations

    MedlinePLUS

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  7. Chiari Malformation

    MedlinePLUS

    ... these tests: Magnetic resonance imaging (MRI) , which uses magnets, radio waves, and computer technology to produce pictures ... ultrasound images before birth. Back Continue Treatment Most kids with Chiari malformations who don't have symptoms ...

  8. Germline PTPN11 and somatic PIK3CA variant in a boy with megalencephaly-capillary malformation syndrome (MCAP)--pure coincidence?

    PubMed

    Döcker, Dennis; Schubach, Max; Menzel, Moritz; Spaich, Christiane; Gabriel, Heinz-Dieter; Zenker, Martin; Bartholdi, Deborah; Biskup, Saskia

    2015-03-01

    Megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth syndrome that is diagnosed by clinical criteria. Recently, somatic and germline variants in genes that are involved in the PI3K-AKT pathway (AKT3, PIK3R2 and PIK3CA) have been described to be associated with MCAP and/or other related megalencephaly syndromes. We performed trio-exome sequencing in a 6-year-old boy and his healthy parents. Clinical features were macrocephaly, cutis marmorata, angiomata, asymmetric overgrowth, developmental delay, discrete midline facial nevus flammeus, toe syndactyly and postaxial polydactyly--thus, clearly an MCAP phenotype. Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p.(Gln510Arg)), which has so far been associated with Noonan, as well as LEOPARD syndrome. Whole-exome sequencing (>100 × coverage) did not reveal any alteration in the known megalencephaly genes. However, ultra-deep sequencing results from saliva (>1000 × coverage) revealed a 22% mosaic variant in PIK3CA (c.2740G>A; p.(Gly914Arg)). To our knowledge, this report is the first description of a PTPN11 germline variant in an MCAP patient. Data from experimental studies show a complex interaction of SHP2 (gene product of PTPN11) and the PI3K-AKT pathway. We hypothesize that certain PTPN11 germline variants might drive toward additional second-hit alterations. PMID:24939587

  9. Chiari Malformation

    MedlinePLUS

    ... of the back of the head or the neck and contains brain matter. The covering of the brain or spinal ... fusion of segments of the bones in the neck, and extra folds in the brain. How common are Chiari malformations? In the past, ...

  10. Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varón syndrome or report of a new entity.

    PubMed

    Reutter, Heiko; Bagci, Soyhan; Müller, Andreas; Gembruch, Ulrich; Geipel, Annegret; Berg, Christoph; Eggermann, Thomas; Spengler, Sabrina; Bartmann, Peter; Rudnik-Schöneborn, Sabine

    2012-01-01

    Here we describe a patient with a new malformation syndrome which shows similarities with Yunis-Varon syndrome (YVS). Prenatal presentation included polyhydramnios, increased nuchal translucency, and bilateral hydrothoraces requiring pigtail insertion. Postnatal presentation revealed primary pulmonary hypertension (PPH), persistent hydrothoraces, one atrial and two ventricular septal defects, hypoplasia of the corpus callosum and cerebellar vermis, dilated interhemispheric ventricles, severe developmental delay with general muscular hypotonia, retinal anomalies, sparse scalp hair, sparse eyebrows and eyelashes, hypo- and aplastic nails, low-set dysplastic ears, loose nuchal skin, hypo- and aplastic distal phalanges of the toes as well as postnatal failure to thrive. High resolution molecular karyotyping in the patient did not reveal any causative chromosomal aberration. Since one patient with YVS and PPH has been previously reported, we assume a similar pathogenic pathway. However, molecular confirmation of the clinical diagnosis is not yet possible. It remains uncertain if the presented syndrome can be classified as YVS with PPH or if it constitutes a new YVS like entity. PMID:22044576

  11. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

    PubMed Central

    2013-01-01

    Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS. PMID:23679990

  12. Classification and diagnosis of ear malformations

    PubMed Central

    Bartel-Friedrich, Sylva; Wulke, Cornelia

    2008-01-01

    In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90%) and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations) or acquired in nature. Malformations can affect the outer ear (pinna and external auditory canal, EAC), middle ear and inner ear, not infrequently in combination. Formal classification is advisable in order to be able to predict the prognosis and compare treatment schedules. Various classifications have been proposed: pinna and EAC malformations according to Weerda [1], middle ear malformations according to Kösling [2], and inner ear malformations according to Jackler [3], [4], to Marangos [5] and to Sennaroglu [6]. Additionally, we describe Altmann’s classification of atresia auris congenita [7] and the Siegert-Mayer-Weerda score [8] for EAC and middle ear malformations, systems of great practicability that are in widespread clinical use. The diagnostic steps include clinical examination, audiological testing, genetic analysis and, especially, CT and MRI. These imaging methods are most usefully employed in combination. Precise description of the malformations by means of CT and MRI is indispensable for the planning and successful outcome of operative ear reconstruction and rehabilitation procedures, including cochlear implantation. PMID:22073081

  13. Loss of Wnt5a disrupts second heart field cell deployment and may contribute to OFT malformations in DiGeorge syndrome

    PubMed Central

    Sinha, Tanvi; Li, Ding; Théveniau-Ruissy, Magali; Hutson, Mary R.; Kelly, Robert G.; Wang, Jianbo

    2015-01-01

    Outflow tract (OFT) malformation accounts for ∼30% of human congenital heart defects and manifests frequently in TBX1 haplo-insufficiency associated DiGeorge (22q11.2 deletion) syndrome. OFT myocardium originates from second heart field (SHF) progenitors in the pharyngeal and splanchnic mesoderm (SpM), but how these progenitors are deployed to the OFT is unclear. We find that SHF progenitors in the SpM gradually gain epithelial character and are deployed to the OFT as a cohesive sheet. Wnt5a, a non-canonical Wnt, is expressed specifically in the caudal SpM and may regulate oriented cell intercalation to incorporate SHF progenitors into an epithelial-like sheet, thereby generating the pushing force to deploy SHF cells rostrally into the OFT. Using enhancer trap and Cre transgenes, our lineage tracing experiments show that in Wnt5a null mice, SHF progenitors are trapped in the SpM and fail to be deployed to the OFT efficiently, resulting in a reduction in the inferior OFT myocardial wall and its derivative, subpulmonary myocardium. Concomitantly, the superior OFT and subaortic myocardium are expanded. Finally, in chick embryos, blocking the Wnt5a function in the caudal SpM perturbs polarized elongation of SHF progenitors, and compromises their deployment to the OFT. Collectively, our results highlight a critical role for Wnt5a in deploying SHF progenitors from the SpM to the OFT. Given that Wnt5a is a putative transcriptional target of Tbx1, and the similar reduction of subpulmonary myocardium in Tbx1 mutant mice, our results suggest that perturbing Wnt5a-mediated SHF deployment may be an important pathogenic mechanism contributing to OFT malformations in DiGeorge syndrome. PMID:25410658

  14. A Rare Case of Acroangiodermatitis Associated with a Congenital Arteriovenous Malformation (Stewart-Bluefarb Syndrome) in a Young Veteran: Case Report and Review of the Literature.

    PubMed

    Archie, Mark; Khademi, Saieh; Aungst, David; Nouvong, Aksone; Freeman, Shanna; Gelabert, Hugh; Rigberg, David; deVirgilio, Christian; Lewis, Michael; O'Connell, Jessica

    2015-10-01

    Acroangiodermatitis (AD) is a rare angioproliferative disease manifesting with cutaneous lesions clinically similar to Kaposi's sarcoma. AD is a benign hyperplasia of preexisting vasculature and may be associated with acquired or congenital arteriovenous malformations (AVM), or severe chronic venous insufficiency (because of hypostasis, elevated venous pressure, arteriovenous shunting). Stewart-Bluefarb syndrome is the rare syndrome in which AD is associated with a congenital AVM. We present the case of a young veteran with a painful, chronic nonhealing ulcer and ipsilateral popliteal artery occlusion likely because of trauma, who elected transmetatarsal amputation for symptomatic relief. A 24-year-old male veteran presented with a 5-year history of a nonhealing dorsal left foot ulcer, resulting from a training exercise injury. He ultimately developed osteomyelitis requiring antibiotics, frequent debridements, multiple trials of unsuccessful skin substitute grafting, and severe unremitting pain. He noted a remote history of left digital deformities treated surgically as a child, and an AVM, previously endovascularly treated at an outside facility. Arterial duplex revealed somewhat dampened left popliteal, posterior tibial (PT), and dorsalis pedis (DP) artery signals with arterial brachial index of 1.0. CT angiography showed occlusion of the proximal to mid popliteal artery with significant calcifications felt initially to be a result of prior trauma. Pedal pulses were palpable and transcutaneous oxygen measurements revealed adequate oxygenation. Because of unremitting pain, the patient opted for amputation. Pathology revealed vascular proliferation consistent with AD. This case illustrates an unusual diagnosis of acroangiodermatitis, and a rare syndrome when associated with his underlying AVM (Stewart-Bluefarb syndrome). This resulted in a painful, chronic ulcer and was further complicated by trauma-related arterial occlusive disease. AD disease can hinder wound healing even in the presence of clinically evident blood flow. Although rare, such unusual diagnoses should be entertained particularly in the unusually young vascular surgical patient. PMID:26100590

  15. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used. PMID:26631589

  16. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia

    PubMed Central

    Royer-Bertrand, Beryl; Castillo-Taucher, Silvia; Moreno-Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos-Xavier, Belinda; Girardi, Enrico; Superti-Furga, Giulio; Bonafé, Luisa; Rivolta, Carlo; Unger, Sheila; Superti-Furga, Andrea

    2015-01-01

    We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malformations, and for which we propose the name of EVEN-PLUS syndrome for epiphyseal, vertebral, ear, nose, plus associated findings. In three individuals from two families, no mutation in LONP1 was found; instead, we found biallelic mutations in HSPA9, the gene that codes for mHSP70/mortalin, another highly conserved mitochondrial chaperone protein essential in mitochondrial protein import, folding, and degradation. The functional relationship between LONP1 and HSPA9 in mitochondrial protein chaperoning and the overlapping phenotypes of CODAS and EVEN-PLUS delineate a family of “mitochondrial chaperonopathies” and point to an unexplored role of mitochondrial chaperones in human embryonic morphogenesis. PMID:26598328

  17. Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

    PubMed

    Royer-Bertrand, Beryl; Castillo-Taucher, Silvia; Moreno-Salinas, Rodrigo; Cho, Tae-Joon; Chae, Jong-Hee; Choi, Murim; Kim, Ok-Hwa; Dikoglu, Esra; Campos-Xavier, Belinda; Girardi, Enrico; Superti-Furga, Giulio; Bonafé, Luisa; Rivolta, Carlo; Unger, Sheila; Superti-Furga, Andrea

    2015-01-01

    We and others have reported mutations in LONP1, a gene coding for a mitochondrial chaperone and protease, as the cause of the human CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373). Here, we delineate a similar but distinct condition that shares the epiphyseal, vertebral and ocular changes of CODAS but also included severe microtia, nasal hypoplasia, and other malformations, and for which we propose the name of EVEN-PLUS syndrome for epiphyseal, vertebral, ear, nose, plus associated findings. In three individuals from two families, no mutation in LONP1 was found; instead, we found biallelic mutations in HSPA9, the gene that codes for mHSP70/mortalin, another highly conserved mitochondrial chaperone protein essential in mitochondrial protein import, folding, and degradation. The functional relationship between LONP1 and HSPA9 in mitochondrial protein chaperoning and the overlapping phenotypes of CODAS and EVEN-PLUS delineate a family of "mitochondrial chaperonopathies" and point to an unexplored role of mitochondrial chaperones in human embryonic morphogenesis. PMID:26598328

  18. Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

    PubMed

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

    2016-01-01

    We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts. PMID:26599961

  19. Stratified Whole Genome Linkage Analysis of Chiari Type I Malformation Implicates Known Klippel-Feil Syndrome Genes as Putative Disease Candidates

    PubMed Central

    Markunas, Christina A.; Soldano, Karen; Dunlap, Kaitlyn; Cope, Heidi; Asiimwe, Edgar; Stajich, Jeffrey; Enterline, David; Grant, Gerald; Fuchs, Herbert

    2013-01-01

    Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes have been identified. We therefore conducted the largest whole genome linkage screen to date using 367 individuals from 66 families with at least two individuals presenting with nonsyndromic CMI with or without syringomyelia. Initial findings across all 66 families showed minimal evidence for linkage due to suspected genetic heterogeneity. In order to improve power to localize susceptibility genes, stratified linkage analyses were performed using clinical criteria to differentiate families based on etiologic factors. Families were stratified on the presence or absence of clinical features associated with connective tissue disorders (CTDs) since CMI and CTDs frequently co-occur and it has been proposed that CMI patients with CTDs represent a distinct class of patients with a different underlying disease mechanism. Stratified linkage analyses resulted in a marked increase in evidence of linkage to multiple genomic regions consistent with reduced genetic heterogeneity. Of particular interest were two regions (Chr8, Max LOD = 3.04; Chr12, Max LOD = 2.09) identified within the subset of “CTD-negative” families, both of which harbor growth differentiation factors (GDF6, GDF3) implicated in the development of Klippel-Feil syndrome (KFS). Interestingly, roughly 3–5% of CMI patients are diagnosed with KFS. In order to investigate the possibility that CMI and KFS are allelic, GDF3 and GDF6 were sequenced leading to the identification of a previously known KFS missense mutation and potential regulatory variants in GDF6. This study has demonstrated the value of reducing genetic heterogeneity by clinical stratification implicating several convincing biological candidates and further supporting the hypothesis that multiple, distinct mechanisms are responsible for CMI. PMID:23620759

  20. De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

    PubMed

    Reijnders, Margot R F; Zachariadis, Vasilios; Latour, Brooke; Jolly, Lachlan; Mancini, Grazia M; Pfundt, Rolph; Wu, Ka Man; van Ravenswaaij-Arts, Conny M A; Veenstra-Knol, Hermine E; Anderlid, Britt-Marie M; Wood, Stephen A; Cheung, Sau Wai; Barnicoat, Angela; Probst, Frank; Magoulas, Pilar; Brooks, Alice S; Malmgren, Helena; Harila-Saari, Arja; Marcelis, Carlo M; Vreeburg, Maaike; Hobson, Emma; Sutton, V Reid; Stark, Zornitza; Vogt, Julie; Cooper, Nicola; Lim, Jiin Ying; Price, Sue; Lai, Angeline Hwei Meeng; Domingo, Deepti; Reversade, Bruno; Gecz, Jozef; Gilissen, Christian; Brunner, Han G; Kini, Usha; Roepman, Ronald; Nordgren, Ann; Kleefstra, Tjitske

    2016-02-01

    Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males. In contrast, the number of identified X-linked genes in which de novo mutations specifically cause ID in females is limited. Here, we report 17 females with de novo loss-of-function mutations in USP9X, encoding a highly conserved deubiquitinating enzyme. The females in our study have a specific phenotype that includes ID/developmental delay (DD), characteristic facial features, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Four females from our cohort were identified by targeted genetic testing because their phenotype was suggestive for USP9X mutations. In several females, pigment changes along Blaschko lines and body asymmetry were observed, which is probably related to differential (escape from) X-inactivation between tissues. Expression studies on both mRNA and protein level in affected-female-derived fibroblasts showed significant reduction of USP9X level, confirming the loss-of-function effect of the identified mutations. Given that some features of affected females are also reported in known ciliopathy syndromes, we examined the role of USP9X in the primary cilium and found that endogenous USP9X localizes along the length of the ciliary axoneme, indicating that its loss of function could indeed disrupt cilium-regulated processes. Absence of dysregulated ciliary parameters in affected female-derived fibroblasts, however, points toward spatiotemporal specificity of ciliary USP9X (dys-)function. PMID:26833328

  1. Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations.

    PubMed

    Escot, Sophie; Blavet, Cédrine; Faure, Emilie; Zaffran, Stéphane; Duband, Jean-Loup; Fournier-Thibault, Claire

    2016-02-15

    DiGeorge syndrome (DGS) is a congenital disease causing cardiac outflow tract anomalies, craniofacial dysmorphogenesis, thymus hypoplasia, and mental disorders. It results from defective development of neural crest cells (NCs) that colonize the pharyngeal arches and contribute to lower jaw, neck and heart tissues. Although TBX1 has been identified as the main gene accounting for the defects observed in human patients and mouse models, the molecular mechanisms underlying DGS etiology are poorly identified. The recent demonstrations that the SDF1/CXCR4 axis is implicated in NC chemotactic guidance and impaired in cortical interneurons of mouse DGS models prompted us to search for genetic interactions between Tbx1, Sdf1 (Cxcl12) and Cxcr4 in pharyngeal NCs and to investigate the effect of altering CXCR4 signaling on the ontogeny of their derivatives, which are affected in DGS. Here, we provide evidence that Cxcr4 and Sdf1 are genetically downstream of Tbx1 during pharyngeal NC development and that reduction of CXCR4 signaling causes misrouting of pharyngeal NCs in chick and dramatic morphological alterations in the mandibular skeleton, thymus and cranial sensory ganglia. Our results therefore support the possibility of a pivotal role for the SDF1/CXCR4 axis in DGS etiology. PMID:26755698

  2. Genetic causes of vascular malformations.

    PubMed

    Brouillard, Pascal; Vikkula, Miikka

    2007-10-15

    Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the inherited forms. In parallel, definition of the clinical phenotypes has improved and disorders such as Parkes-Weber syndrome (PKWS), first thought to be sporadic, is now known to be part of a more common inheritable phenotype. In addition, the concept of double-hit mechanism that we proposed earlier to explain the incomplete penetrance, variable expressivity and multifocality of lesions in inherited venous anomalies is now becoming confirmed, as some somatic mutations have been identified in venous, glomuvenous and cerebral cavernous malformations. It is thus tempting to suggest that familial forms of vascular malformations follow paradominant inheritance and that sporadic forms, the etiopathogenic causes of which are still unelucidated, are caused by somatic mutations in the same genes. PMID:17670762

  3. Evaluation and management of peripheral venous and lymphatic malformations.

    PubMed

    Nassiri, Naiem; Thomas, Jones; Cirillo-Penn, Nolan C

    2016-04-01

    The International Society for Study of Vascular Anomalies (ISSVA) broadly categorizes vascular anomalies as vascular tumors or vascular malformations. The latter are congenital lesions that are further categorized by their flow properties and include high-flow arteriovenous malformations, slow-flow venous and lymphatic malformations, and congenital mixed syndromes, which can include a combination of malformations. Unlike vascular tumors, vascular malformations never regress and can persist and grow for the duration of the patient's lifespan. As our understanding of the natural history, hemodynamics, and treatment outcomes of these lesions has expanded and evolved over the last few decades, certain fundamental diagnostic and therapeutic principles have been established and are considered standard of care. These overarching principles are crucial to adhere to in the overall management of these lesions and are highlighted and expanded on in this report, which focuses exclusively on peripheral slow-flow venous and lymphatic malformations. PMID:26993876

  4. Venous Malformation: update on etiopathogenesis, diagnosis & management

    PubMed Central

    Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M

    2011-01-01

    The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area. PMID:20870869

  5. Combined Lymphedema and Capillary Malformation of the Lower Extremity

    PubMed Central

    Maclellan, Reid A.; Chaudry, Gulraiz

    2016-01-01

    Background: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel–Trenaunay and Parkes Weber). Methods: Our Vascular Anomalies Center and Lymphedema Program databases were searched for patients with both capillary malformation and lymphedema. Diagnosis of lymphedema–capillary malformation was made by history, physical examination, and imaging studies. Because lymphedema–capillary malformation has phenotypical overlap with other conditions, only patients who had imaging confirming their diagnosis were included in the analysis. Clinical and radiological features, morbidity, and treatment were recorded. Results: Eight patients (4 females and 4 males) had confirmed lymphedema–capillary malformation. Referring diagnosis was Klippel–Trenaunay syndrome (n = 4), diffuse capillary malformation with overgrowth (n = 3), or lymphatic malformation (n = 1). The condition was unilateral (n = 6) or bilateral (n = 2). Morbidity included infection (n = 6), difficulty fitting clothes (n = 6), bleeding or leaking vesicles (n = 5), leg length discrepancy (n = 4), and difficulty ambulating (n = 3). All patients were managed with compression regimens. Operative management was liposuction (n = 3), treatment of phlebectatic veins (n = 3), staged skin/subcutaneous excision (n = 1), and/or epiphysiodesis (n = 1). Conclusions: Lymphedema and capillary malformation can occur together in the same extremity. Both conditions independently cause limb overgrowth primarily because of subcutaneous adipose deposition. Compression garments and suction-assisted lipectomy can improve the condition. Lymphedema–capillary malformation should not be confused with other vascular malformation overgrowth diseases that have different morbidities and treatments. PMID:27014547

  6. Total knee arthroplasty in vascular malformation.

    PubMed

    Bhende, Harish; Laud, Nanadkishore; Deore, Sandeep; Shashidhar, V

    2015-01-01

    In Klippel-Trenaunay syndrome, vascular malformations are not only in skin and superficial soft tissues but also in deep tissues like muscles bones and joints. It is well documemted that these recurrent intraarticular bleeds can cause early arthritis and joint pain. Performing arthroplasty in such patients is difficult and fraught with complications. We describe such a case where navigated total knee arthroplasty was performed with success to avoid the problems of intra medullary alignment used in the presence of intra medullary vascular malformations. We also suggest certain measures when knee arthroplasty is considered in such patients. PMID:26538765

  7. Total knee arthroplasty in vascular malformation

    PubMed Central

    Bhende, Harish; Laud, Nanadkishore; Deore, Sandeep; Shashidhar, V

    2015-01-01

    In Klippel–Trenaunay syndrome, vascular malformations are not only in skin and superficial soft tissues but also in deep tissues like muscles bones and joints. It is well documemted that these recurrent intraarticular bleeds can cause early arthritis and joint pain. Performing arthroplasty in such patients is difficult and fraught with complications. We describe such a case where navigated total knee arthroplasty was performed with success to avoid the problems of intra medullary alignment used in the presence of intra medullary vascular malformations. We also suggest certain measures when knee arthroplasty is considered in such patients. PMID:26538765

  8. Bilateral proptosis, dilatation of conjunctival veins, and papilloedema: a neuro-ophthalmological syndrome caused by arteriovenous malformation of the torcular herophili.

    PubMed Central

    Buchanan, T A; Harper, D G; Hoyt, W F

    1982-01-01

    A patient with an occipital dural arteriovenous malformation (AVM) developed signs of a carotid-cavernous sinus fistula and raised intracranial pressure. Bilateral transverse sinus occlusion associated with the AVM produced these signs by rerouting intracranial venous drainage anteriorly through the cavernous sinuses and superior ophthalmic veins. Angiography and computerised tomographic reformation techniques were used to define these extraordinary cranio-orbital venous pathways. Images PMID:7066271

  9. Two families with isolated cat cry without the cri-du-chat syndrome phenotype have an inherited 5p15.3 deletion: Delineation of the larynx malformation region

    SciTech Connect

    Gersh, M.; Overhauser, J.; Pasztor, L.M.

    1994-09-01

    The cri-du-chat syndrome is a contiguous gene syndrome that results from a deletion of the short arm of chromosome 5 (5p). Patients present with a cat-like cry at birth that is usually considered diagnostic of this syndrome. Additional features of the syndrome include failure to thrive, microcephaly, hypertelorism, epicanthal folds, hypotonia, and severe mental retardation. We report on two families in which the patients with 5p deletions have only the characteristic cat-like cry with normal to mildly delayed development. One family has three children with varying levels of developmental delay and a deletion of 5p15.3 that was inherited from the father. The second family has a mother and daughter both presenting with a cat-like cry and normal intelligence. A de novo deletion in a patient with isolated cat cry and mild developmental delay was also identified. The precise locations of the deletions in each family were determined by fluorescent in situ hybridization using lambda phage, cosmids, and YAC clones. Cryptic translocations and mosaicism were not detected in the parents transmitting the deletion. All of the deletion breakpoints map distal to the previously defined cri-du-chat critical region. A YAC contig has been constructed for the chromosomal region implicated in the larynx malformation. DNA clones mapping in this region will be useful diagnostic tools for delineating 5p deletions that result in the typical features of cri-du-chat syndrome with deletions that result in the isolated cat-like cry feature which is associated with a better prognosis.

  10. Capillary Malformation–Arteriovenous Malformation, a New Clinical and Genetic Disorder Caused by RASA1 Mutations

    PubMed Central

    Eerola, Iiro; Boon, Laurence M.; Mulliken, John B.; Burrows, Patricia E.; Dompmartin, Anne; Watanabe, Shoji; Vanwijck, Romain; Vikkula, Miikka

    2003-01-01

    Capillary malformation (CM), or “port-wine stain,” is a common cutaneous vascular anomaly that initially appears as a red macular stain that darkens over years. CM also occurs in several combined vascular anomalies that exhibit hypertrophy, such as Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and Parkes Weber syndrome. Occasional familial segregation of CM suggests that there is genetic susceptibility, underscored by the identification of a large locus, CMC1, on chromosome 5q. We used genetic fine mapping with polymorphic markers to reduce the size of the CMC1 locus. A positional candidate gene, RASA1, encoding p120-RasGAP, was screened for mutations in 17 families. Heterozygous inactivating RASA1 mutations were detected in six families manifesting atypical CMs that were multiple, small, round to oval in shape, and pinkish red in color. In addition to CM, either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome was documented in all the families with a mutation. We named this newly identified association caused by RASA1 mutations “CM-AVM,” for capillary malformation–arteriovenous malformation. The phenotypic variability can be explained by the involvement of p120-RasGAP in signaling for various growth factor receptors that control proliferation, migration, and survival of several cell types, including vascular endothelial cells. PMID:14639529

  11. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

    Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures. PMID:11469062

  12. Aase syndrome

    MedlinePLUS

    Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome ... Jones KL, ed. Aase syndrome. In: Smith's Recognizable Patterns Of Human Malformation. 6th ed. Saunders. 2005. Clinton C, Gazda HT. Diamond-Blackfan Anemia. 2009 Jun 25 [Updated 2013 Jul ...

  13. Pelvic Vascular Malformations

    PubMed Central

    Christenson, Brian M.; Gipson, Matthew G.; Smith, Mitchell T.

    2013-01-01

    Vascular malformations (VMs) comprise a wide spectrum of lesions that are classified by content and flow characteristics. These lesions, occurring in both focal and diffuse forms, can involve any organ and tissue plane and can cause significant morbidity in both children and adults. Since treatment strategy depends on the type of malformation, correct diagnosis and classification of a vascular lesion are crucial. Slow-flow VMs (venous and lymphatic malformations) are often treated by sclerotherapy, whereas fast-flow lesions (arteriovenous malformations) are generally managed with embolization. In addition, some cases of VMs are best treated surgically. This review will present an overview of VMs in the female pelvis as well as a discussion of endovascular therapeutic techniques. PMID:24436563

  14. Congenital Vascular Malformation

    MedlinePLUS

    ... reason these artery- to-vein connections, or a cluster of them persist. Such connections are called arteriovenous fistulas (AVFs), or if there is a cluster of them they are called arteriovenous malformations (AVMs). ...

  15. Chiari Malformation: Treatment

    MedlinePLUS

    ... around the malformation and restore the flow of spinal fluid. There are many variations: Surgical Steps Craniectomy- ... in the head) may benefit from this procedure. Fusion/Stabilization - As part of a decompression, or at ...

  16. Inherited CHST11/MIR3922 deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative disease

    PubMed Central

    Chopra, Sameer S; Leshchiner, Ignaty; Duzkale, Hatice; McLaughlin, Heather; Giovanni, Monica; Zhang, Chengsheng; Stitziel, Nathan; Fingeroth, Joyce; Joyce, Robin M; Lebo, Matthew; Rehm, Heidi; Vuzman, Dana; Maas, Richard; Sunyaev, Shamil R; Murray, Michael; Cassa, Christopher A

    2015-01-01

    Glycosaminoglycans (GAGs) such as chondroitin are ubiquitous disaccharide carbohydrate chains that contribute to the formation and function of proteoglycans at the cell membrane and in the extracellular matrix. Although GAG-modifying enzymes are required for diverse cellular functions, the role of these proteins in human development and disease is less well understood. Here, we describe two sisters out of seven siblings affected by congenital limb malformation and malignant lymphoproliferative disease. Using Whole-Genome Sequencing (WGS), we identified in the proband deletion of a 55 kb region within chromosome 12q23 that encompasses part of CHST11 (encoding chondroitin-4-sulfotransferase 1) and an embedded microRNA (MIR3922). The deletion was homozygous in the proband but not in each of three unaffected siblings. Genotyping data from the 1000 Genomes Project suggest that deletions inclusive of both CHST11 and MIR3922 are rare events. Given that CHST11 deficiency causes severe chondrodysplasia in mice that is similar to human limb malformation, these results underscore the importance of chondroitin modification in normal skeletal development. Our findings also potentially reveal an unexpected role for CHST11 and/or MIR3922 as tumor suppressors whose disruption may contribute to malignant lymphoproliferative disease. PMID:26436107

  17. Interventional treatment of pulmonary arteriovenous malformations

    PubMed Central

    Andersen, Poul Erik; Kjeldsen, Anette Drøhse

    2010-01-01

    Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT. PMID:21160695

  18. [Multiple intracranial arteriovenous malformation].

    PubMed

    Gelabert-González, Miguel; Santin-Amo, José María; Román-Pena, Paula; Vázquez Herrero, Fernando

    2015-01-01

    Multiple cerebral arteriovenous malformations (AVMs) are thought to be exceedingly rare lesions and have usually been reported as single cases. The incidence of multiple cerebral AVMs in major series ranges from 0.3% to 9% and, in the majority of cases, these malformations are associated with other vascular anomalies of the brain or soft tissues. We report a 62-year-old woman that presented with a left temporal haemorrhage. Angiography showed 3 AVMs located in the left temporal lobe, left cerebellar hemisphere and right temporal lobe. The lesions were treated with radiosurgery. PMID:25596643

  19. Chiari malformation in pregnancy.

    PubMed

    Parfitt, Sheryl E; Roth, Cheryl K

    2015-01-01

    The diagnosis of Chiari malformation is on the rise owing to the increased frequency of brain imaging for concussion and trauma. This abnormal brain physiology can have a significant impact on the care management of a pregnant woman during the gestational period. Here we present a case example of a pregnant woman presenting in labor with a history of Chiari malformation with surgical treatment during her pregnancy. Antepartum, intrapartum and postpartum considerations are reviewed. This brief article is meant to be used as an easy-reference tool in the clinical setting. PMID:25900588

  20. A developmental and genetic classification for midbrain-hindbrain malformations

    PubMed Central

    Millen, Kathleen J.; Dobyns, William B.

    2009-01-01

    Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

  1. Cerebral Cavernous Malformations (CCM)

    MedlinePLUS

    ... carrying or being affected by the illness. Sturge-Weber Syndrome (SWS) What is Sturge-Weber Syndrome? Sturge-Weber Syndrome (SWS) is the association ... of the body or brain. Who gets Sturge-Weber Syndrome? SWS does NOT run in families. SWS ...

  2. Variants in CUL4B are Associated with Cerebral Malformations

    PubMed Central

    Vulto-van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K.; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M.; Yntema, Helger G.; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B.A.; Brunner, Han G.; van Bokhoven, Hans; Raymond, F. Lucy; Willemsen, Michèl A.A.P.; Chelly, Jamel; Xiong, Yue; Barkovich, A. James; Kalscheuer, Vera M.; Kleefstra, Tjitske; de Brouwer, Arjan P.M.

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B. PMID:25385192

  3. Genetics Home Reference: Capillary malformation-arteriovenous malformation syndrome

    MedlinePLUS

    ... the cell to the nucleus. These signals help control several important cell functions, including cell growth and division (proliferation), the process by which cells mature to carry out specific ...

  4. Virus-induced congenital malformations in cattle.

    PubMed

    Agerholm, Jørgen S; Hewicker-Trautwein, Marion; Peperkamp, Klaas; Windsor, Peter A

    2015-01-01

    Diagnosing the cause of bovine congenital malformations (BCMs) is challenging for bovine veterinary practitioners and laboratory diagnosticians as many known as well as a large number of not-yet reported syndromes exist. Foetal infection with certain viruses, including bovine virus diarrhea virus (BVDV), Schmallenberg virus (SBV), blue tongue virus (BTV), Akabane virus (AKAV), or Aino virus (AV), is associated with a range of congenital malformations. It is tempting for veterinary practitioners to diagnose such infections based only on the morphology of the defective offspring. However, diagnosing a virus as a cause of BCMs usually requires laboratory examination and even in such cases, interpretation of findings may be challenging due to lack of experience regarding genetic defects causing similar lesions, even in cases where virus or congenital antibodies are present. Intrauterine infection of the foetus during the susceptible periods of development, i.e. around gestation days 60-180, by BVDV, SBV, BTV, AKAV and AV may cause malformations in the central nervous system, especially in the brain. Brain lesions typically consist of hydranencephaly, porencephaly, hydrocephalus and cerebellar hypoplasia, which in case of SBV, AKAV and AV infections may be associated by malformation of the axial and appendicular skeleton, e.g. arthrogryposis multiplex congenita. Doming of the calvarium is present in some, but not all, cases. None of these lesions are pathognomonic so diagnosing a viral cause based on gross lesions is uncertain. Several genetic defects share morphology with virus induced congenital malformations, so expert advice should be sought when BCMs are encountered. PMID:26399846

  5. The atrioventricular junctions in Ebstein malformation

    PubMed Central

    Ho, S; Goltz, D; McCarthy, K; Cook, A; Connell, M; Smith, A; Anderson, R

    2000-01-01

    OBJECTIVE—To review the anatomical structure of the right atrioventricular junction, including the specialised atrioventricular conduction system, in hearts with Ebstein's malformation, to identify potential substrates for the abnormalities in conduction.?METHODS—Five heart specimens representing the morphological spectrum of Ebstein malformation were examined grossly and histologically.?RESULTS—On the endocardial surface, the atrioventricular junction was marked by a faint line in two hearts, and by a small ridge in the other three. Analysis of the right parietal junction in four hearts revealed only two accessory muscular atrioventricular connections. A plane of fibrofatty tissue separated atrial from ventricular myocardium in the right parietal junction in all hearts. The compact atrioventricular node was closer to the coronary sinus than usual. Accessory nodoventricular connections were present in four hearts, while accessory fasciculo-ventricular connections were found in one. The right bundle branch was hypoplastic or absent in four hearts.?CONCLUSIONS—In this small series, the parietal atrioventricular junction was better developed than previously thought. Structural abnormalities of the atrioventricular conduction system, however, were present. These may account for some of the conduction abnormalities frequently observed with the Ebstein malformation.???Keywords: Ebstein's anomaly; atrioventricular node; bundle branch block; Wolff-Parkinson-White syndrome PMID:10722549

  6. Evaluation and management of congenital peripheral arteriovenous malformations.

    PubMed

    Nassiri, Naiem; Cirillo-Penn, Nolan C; Thomas, Jones

    2015-12-01

    The International Society for Study of Vascular Anomalies (ISSVA) broadly categorizes vascular anomalies into vascular tumors and vascular malformations. Vascular malformations are further divided based on their flow properties into slow-flow venous and lymphatic malformations, high-flow arteriovenous malformations (AVMs), and congenital mixed syndromes, which can include combinations thereof. Whether occurring in isolation or as part of a broader syndrome, congenital high-flow AVMs are arguably the most complicated, challenging, and gratifying of all vascular malformations to diagnose and manage. Various configurations exist depending on location and coexisting clinical features. Transcatheter embolization has evolved into the mainstay of treatment for most congenital peripheral AVMs with surgical excision playing a growingly limited role as an adjunctive modality. Successful treatment requires technical precision, creativity, patience, and persistence given the ever-evolving angioarchitecture and hemodynamic profile of these lesions. Despite these challenges, certain fundamental principles have been established as our understanding of the pathogenesis, natural history, hemodynamics, and treatment outcomes has expanded and evolved over the last few decades. These principles are crucial to adhere to in the overall management of these lesions and are highlighted and expanded upon herein. PMID:26598124

  7. Arteriovenous Malformation Management

    SciTech Connect

    Yakes, Wayne F.; Rossi, Plinio; Odink, Henk

    1996-11-15

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.

  8. Imaging features of lower limb malformations above the foot.

    PubMed

    Bergère, A; Amzallag-Bellenger, E; Lefebvre, G; Dieux-Coeslier, A; Mezel, A; Herbaux, B; Boutry, N

    2015-09-01

    Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella. PMID:25920687

  9. Somatic Mutations in Cerebral Cortical Malformations

    PubMed Central

    Jamuar, Saumya S.; Lam, Anh-Thu N.; Kircher, Martin; D'Gama, Alissa M.; Wang, Jian; Barry, Brenda J.; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N.; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K.; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E.; Berkovic, Samuel F.; Leventer, Richard J.; Shen, Yiping; Wu, Bai Lin; Barkovich, A. James; Sahin, Mustafa; Chang, Bernard S.; Bamshad, Michael; Nickerson, Deborah A.; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W.; Walsh, Christopher A.

    2014-01-01

    BACKGROUND Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systematically evaluated. METHODS Using a customized panel of known and candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ?200×) to leukocyte-derived DNA samples from 158 persons with brain malformations, including the double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria with megalencephaly (20), periventricular nodular heterotopia (61), and pachygyria (47). We validated candidate mutations with the use of Sanger sequencing and, for variants present at unequal read depths, subcloning followed by colony sequencing. RESULTS Validated, causal mutations were found in 27 persons (17%; range, 10 to 30% for each phenotype). Mutations were somatic in 8 of the 27 (30%), predominantly in persons with the double-cortex syndrome (in whom we found mutations in DCX and LIS1), persons with periventricular nodular heterotopia (FLNA), and persons with pachygyria (TUBB2B). Of the somatic mutations we detected, 5 (63%) were undetectable with the use of traditional Sanger sequencing but were validated through subcloning and subsequent sequencing of the subcloned DNA. We found potentially causal mutations in the candidate genes DYNC1H1, KIF5C, and other kinesin genes in persons with pachygyria. CONCLUSIONS Targeted sequencing was found to be useful for detecting somatic mutations in patients with brain malformations. High-coverage sequencing panels provide an important complement to whole-exome and whole-genome sequencing in the evaluation of somatic mutations in neuropsychiatric disease. (Funded by the National Institute of Neurological Disorders and Stroke and others.) PMID:25140959

  10. Arteriovenous malformations and headache.

    PubMed

    Ellis, Jason A; Mejia Munne, Juan C; Lavine, Sean D; Meyers, Philip M; Connolly, E Sander; Solomon, Robert A

    2016-01-01

    Brain arteriovenous malformations (AVM) are complex vascular lesions commonly associated with chronic headache. An occipital location appears to increase the risk of concurrent migraine-like headaches in AVM patients. We have experienced great success in treating these headaches through a multidisciplinary approach to eradicate cerebral AVM. However, the specific clinical characteristics of AVM-associated headaches and the most effective treatment strategies for these patients remain unclear. Here, we provide a comprehensive review of the literature on AVM-associated headaches. We detail the history, classification, epidemiology, presentation, pathophysiology, treatment options, and outcomes for this poorly described condition. Additionally, we illustrate our approach to the management of patients with occipital AVM and associated intractable headaches. PMID:26461909

  11. Controversies in Chiari I malformations

    PubMed Central

    Baisden, Jamie

    2012-01-01

    Background: The diagnosis and management of Chiari I malformations (CMI) remains controversial, particularly since it is often an incidental finding on cervical MR scans performed for neck pain and/or headaches. Recently, some surgeons “over-operated” on asymptomatic patients with Chiari I malformations, or even on those without the requisite radiographic diagnostic features for Chiari I malformations: unfortunately, only a subset were admonished for indiscriminate surgery. Nevertheless, when this hindbrain malformation is truly symptomatic, contributing to impaired cerebrospinal fluid (CSF) circulation, various valid surgical management strategies may be adopted. Methods: This review focuses on the current literature regarding the clinical presentation, diagnosis, and surgical management of Chiari I malformation. Variations in the surgical technique are also presented and critiqued. Results: The recommended treatment for Chiari I malformations I consists of decompressive suboccipital craniectomy and duroplasty when abnormal cine-flow MRI is observed preoperatively and blockage of CSF flow persists intraoperatively despite bony decompression. Conclusions: Controversy continues regarding the optimal surgical technique to address Chiari malformations I. Proper diagnostic studies and patient selection are needed to optimize patient outcomes, while avoiding unnecessary surgical procedures. PMID:22905329

  12. A familial venous malformation locus is on chromosome 9p

    SciTech Connect

    Boon, L.M.; Mulliken, J.B.; Vikkula, M.

    1994-09-01

    Venous malformation is the most common vascular malformation affecting 0.2% of the population. Depending upon size and location, these slow-flow lesions may cause pain, anatomic distortion and threaten life. Most venous malformations occur sporadically and present as solitary lesions. For this reason, determining their pathogenic bases has proven elusive. However, venous malformations also occur in several rare syndromes, some of which demonstrate Mendelian inheritance. As a first step towards identifying the pathogenic bases for these lesions, we have mapped a locus for an autosomal dominant disorder in a three generation family that manifests as multiple cutaneous and mucosal venous malformations. This locus lies within a 24.5 cM interval on chromosome 9p, defined by the markers D9S157 and D9S163. A maximum LOD score of 4.11 at {theta} = 0.05 is obtained with several markers within the interval. The interferon gene cluster, which has previously been implicated in angiogenesis, and the multiple tumor suppressor gene, responsible for several types of malignant tumors, also lie within this interval and are potential candidates.

  13. Noonan syndrome

    PubMed Central

    Roberts, Amy E; Allanson, Judith E; Tartaglia, Marco; Gelb, Bruce D

    2014-01-01

    Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments. PMID:23312968

  14. Pancreatic Arteriovenous Malformation

    PubMed Central

    Yamabuki, Takumi; Ohara, Masanori; Kimura, Noriko; Okamura, Kunishige; Kuroda, Aki; Takahashi, Ryo; Komuro, Kazuteru; Iwashiro, Nozomu

    2014-01-01

    An unusual case of pancreatic arteriovenous malformation (P-AVM) combined with esophageal cancer is reported. A 59-year-old man was admitted with upper abdominal pain. Contrast-enhanced computed tomography showed numerous strongly enhanced abnormal vessels and a hypovascular lesion in the area of the pancreatic tail. Angiographic study of the celiac artery confirmed racemose vascular networks in the tail of the pancreas. Endoscopic retrograde pancreatography revealed narrowing and displacement of the main pancreatic duct in the tail of the pancreas. Screening esophagoscopy showed a 0-IIa+IIc type tumor in the lower thoracic esophagus. Histological examination of esophagoscopic biopsies showed squamous cell carcinoma. Based on these findings, P-AVM or pancreatic cancer and esophageal cancer were diagnosed. Video-assisted thoracoscopic esophagectomy and distal pancreatectomy were performed. Histological examination of the resected pancreas revealed abundant abnormal vessels with intravascular thrombi. In addition, rupture of a dilated pancreatic duct with pancreatic stones and both severe atrophy and fibrosis of the pancreatic parenchyma were observed. The final diagnoses were P-AVM consequent to severe chronic pancreatitis and esophageal carcinoma. The patient's postoperative course was relatively good. PMID:24574946

  15. VEGF induces cardiovascular malformation and embryonic lethality.

    PubMed Central

    Feucht, M.; Christ, B.; Wilting, J.

    1997-01-01

    The essential function of vascular endothelial growth factor (VEGF) in embryonic angiogenesis has clearly been documented in murine embryos with targeted deletions of either VEGF or its receptors. The effects of VEGF in the organogenetic phase of development have not been studied to date. Therefore, we applied 0.7 to 0.9 microgram of VEGF via methylcellulose carriers into the midbrain or onto the right forelimb of 4.5-day-old quail embryos. Another group of embryos was treated with 1 microgram of platelet-derived growth factor and controls were carried out using carriers without any growth factor. VEGF-induced cardiovascular malformations resulted in embryonic lethality. The venous area of the vasculature was dilated in almost all organs. The heart was most seriously affected and showed typical characteristics of insufficiency. VEGF strongly increased endocardial cell proliferation and obviously induced impairment of the growth rates of myocardium and endocardium. The myocardium of the ventricles was extremely thin, and septation defects were observed. As a result of the disturbed outflow, the atria were extremely dilated and thin-walled. The morphology of the hearts was reminiscent of that observed in congenital malformations such as Uhl's and Osler's syndromes. Our results show that expression of VEGF has to be tightly controlled during development. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 PMID:9358767

  16. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

    Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways– all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects. PMID:24793338

  17. The Axenfeld syndrome and the Rieger syndrome.

    PubMed Central

    Fitch, N; Kaback, M

    1978-01-01

    A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence. Images PMID:416212

  18. Pulmonary arteriovenous malformations.

    PubMed

    Shovlin, Claire L

    2014-12-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  19. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ∼1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  20. Intracranial vascular malformations: MR and CT imaging

    SciTech Connect

    Kucharczyk, W.; Lemme-Pleghos, L.; Uske, A.; Brant-Zawadzki, M.; Dooms, G.; Norman, D.

    1985-08-01

    Twenty-four patients with 29 cerebrovascular malformations were evaluated with a combination of computed tomography (CT), angiography, and magnetic resonance (MR) imaging. Characteristics of the malformations on MR images were reviewed retrospectively, and a comparative evaluation of MR and CT images was made. Of 14 angiographically evident malformations, 13 intra-axial lesions were detected on both CT and MR images, and one dural malformation gave false-negative results on both modalities. The appearance of parenchymal lesions on MR images closely mirrored characteristic CT findings. Angiographically evident malformations have a highly characteristic appearance on MR images. MR may be more sensitive than CT in the detection of small hemorrhagic foci associated with cryptic arteriovenous malformations and may add specificity in the diagnosis of occult malformations in some cases, but MR is less sensitive than CT for the detection of small calcified malformations.

  1. Genetics Home Reference: Cerebral cavernous malformation

    MedlinePLUS

    ... and families Gene Reviews Clinical summary Genetic Testing Registry Genetic testing ClinicalTrials.gov Research studies PubMed Recent ... Gene Review: Familial Cerebral Cavernous Malformation Genetic Testing Registry: Cerebral cavernous malformation Genetic Testing Registry: Cerebral cavernous ...

  2. Sex and congenital malformations: an international perspective.

    PubMed

    Lisi, Alessandra; Botto, Lorenzo D; Rittler, Monica; Castilla, Eduardo; Bianca, Sebastiano; Bianchi, Fabrizio; Botting, Beverley; De Walle, Hermien; Erickson, J David; Gatt, Miriam; De Vigan, Catherine; Irgens, Lorentz; Johnson, William; Lancaster, Paul; Merlob, Paul; Mutchinick, Osvaldo M; Ritvanen, Annukka; Robert, Elisabeth; Scarano, Gioacchino; Stoll, Claude; Mastroiacovo, Pierpaolo

    2005-04-01

    The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or syndromic. We selected cases of 26 major defects (n = 108,534); trisomy 21, 18, and 13 (n = 30,114); other syndromes (n = 2,898); and multiple congenital anomalies (n = 24,197), for a total of 165,743 cases. We observed a significant deviation of sex distribution (compared to a sex ratio of 1.06 or male proportion of 51.4%) for 24 of the 29 groups (a male excess in 16, a female excess in 8), and in 8 of such groups these estimates varied significantly across registries. A male excess was noted for two left obstructive cardiac defects (hypoplastic left heart and coarctation of the aorta) and a female excess for all the main types of neural tube defects. A male excess was seen for omphalocele but not gastroschisis. For neural tube defects the female excess tended to be stronger in areas with historically high prevalence for these defects. For 15 of the 26 birth defects the sex distribution differed among isolated, associated, and syndromic cases. Some of these epidemiologic commonalities are consistent with known or putative developmental processes. Further, the geographic variation for some defects may reflect local prevalence rates and risk factors. Finally, the findings underscore the need for clinical classification (e.g., into isolated, multiple, syndromes) in studies of birth defects. PMID:15704121

  3. Syndrome in question*

    PubMed Central

    Peruzzo, Juliano; Nazar, Fernanda Luca; Tubone, Mariana Quirino; Escobar, Gabriela Fortes; Cestari, Tania Ferreira

    2015-01-01

    Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness. PMID:26375234

  4. Congenital hypothyroidism in Rieger Syndrome.

    PubMed

    Örnek, Nurgül; Oğurel, Reyhan; Örnek, Kemal

    2016-03-01

    Rieger syndrome (RS) is a multiple malformation syndrome characterized by ocular manifestations and extraocular defects. Herein, we report a 9-year-old boy who exhibited Rieger Syndrome phenotype as well as congenital hypothyroidism which may be an underappreciated feature of RS. PMID:24666291

  5. Pseudotumour cerebri associated with arteriovenous malformations.

    PubMed Central

    Cockerell, O. C.; Lai, H. M.; Ross-Russell, R. W.

    1993-01-01

    The association of intracranial hypertension and arteriovenous malformations is described in two patients. Both patients had the typical clinical features of pseudotumour cerebri and were found to have intracranial arteriovenous malformations on arteriography. The mechanism of raised intracranial pressure in patients with arteriovenous malformations is discussed. Images Figure 1 PMID:8234111

  6. [SURGICAL TREATMENT OF THE FACE CAPILLARY MALFORMATION].

    PubMed

    Galich, S P; Gindich, O A; Dabizha, A Yu; Ogorodnik, Ya P

    2015-08-01

    Results of surgical treatment of 37 patients for the head and neck capillary malformations were analyzed. Optimal surgical tactics, depending on the malformation form and localization, was proposed. Restitution of the tissues defect after excision of malformation, using the flaps transposition, have permitted to achieve good esthetic results. PMID:26591862

  7. Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI

    PubMed Central

    González, G.; Vedolin, L.; Barry, B.; Poduri, A.; Walsh, C.; Barkovich, A.J.

    2013-01-01

    BACKGROUND AND PURPOSE Periventricular nodular heterotopia are common malformations of cortical development that are associated with many clinical syndromes and with many different neuroimaging phenotypes. The purpose of this study was to determine whether specific malformation phenotypes may be related to location, side, or number of PNH as assessed by MR imaging. MATERIALS AND METHODS MR images of 200 patients previously diagnosed with PNH were retrospectively analyzed. PNH were classified according to their location along the ventricles (anterior, posterior, or diffuse), side (unilateral or bilateral), and number of nodules (<5, 6–10, or >10). The cerebrum, brain stem and cerebellum were analyzed to assess associated anomalies. Associations between PNH location and the presence of other anomalies were tested by using Fisher exact test and ?2 test. RESULTS Posterior PNH were significantly associated with malformations of the cerebral cortex, diminished white matter volume, and mid-/hindbrain anomalies. Diffuse PNH were associated with diminished white matter volume, callosal “anomalies,” and the presence of megacisterna magna. Unilateral PNH were strongly associated with cortical malformations. CONCLUSIONS Certain malformation complexes are associated with PNH in specific locations: posterior PNH with cerebral cortical and mid-/hindbrain malformations and diffuse PNH with callosal anomalies and megacisterna magna. Knowledge of these associations should allow more directed analyses of brain MR imaging in patients with PNH. In addition, knowledge of these associations may help to direct studies to elucidate the causes of these malformation complexes. PMID:23064591

  8. Reconstruction of middle ear malformations

    PubMed Central

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

  9. [Uncommon malformative association (author's transl)].

    PubMed

    Herrero, E; Ruza, F; Martínez-Almoyna, C; Figols, F J

    1975-01-01

    An uncommon malformative association is presented ((hydrocephalus, bilateral renal hypoplasia, aplasia cutis) associated with neonatal gastrointestinal perforation. The bibliography related with these problems is reviewed, discussing the possible relationship between them. The etiological hypothesis is infective, and pathogenic interpretation is pointed out in this context. PMID:1155862

  10. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

    PubMed Central

    Akers, Amy L.; Ball, Karen L.; Clancy, Marianne; Comi, Anne M.; Faughnan, Marie E.; Gopal-Srivastava, Rashmi; Jacobs, Thomas P.; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A.; McCulloch, Charles E.; Morrison, Leslie; Moses, Marsha; Moy, Claudia S.; Pawlikowska, Ludmilla; Young, William L.

    2013-01-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in “research silos” with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  11. Arteriovenous Malformation of the Oral Cavity

    PubMed Central

    Manjunath, S. M.; Shetty, Sujan; Moon, Ninad J.; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep

    2014-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumors. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. Arteriovenous malformation of the head and neck is a rare vascular anomaly but when present is persistent and progressive in nature and can represent a lethal benign disease. Here we present a case report of a 25-year-old male patient with arteriovenous malformation involving the base of tongue. PMID:24660070

  12. Prenatal diagnosis of cloacal malformation.

    PubMed

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. PMID:26969229

  13. The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.

    ERIC Educational Resources Information Center

    Mittler, Joel E.

    1986-01-01

    The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education…

  14. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Clinically significant cardiovascular malformations (CVMs) occur in 5-8 per 1000 live births. Recurrent copy number variations (CNVs) are among the known causes of syndromic CVMs, accounting for an important fraction of cases. We hypothesized that many additional rare CNVs also cause CVMs and can be...

  15. Coexistence of cavernous hemangioma and other vascular malformations of the orbit. A report of three cases.

    PubMed

    Strianese, Diego; Napoli, Manuela; Russo, Carmela; D'Errico, Arianna; Scotti, Nadia; Puoti, Gianfranco; Bonavolontà, Giulio; Tranfa, Fausto; Briganti, Francesco

    2014-04-01

    Coexistence of orbital cavernous hemangioma and other vascular malformations is unusual and few cases have been reported. We describe the clinical and radiological features of three cases of orbital cavernous hemangiomas associated with other vascular malformations, selected reviewing a series of 181 cases of cavernous hemangiomas. All patients were males (age ranging from 43 to 67 years) without vascular systemic disorders and/or a clinical syndrome. They experienced slow progressive exophthalmos. One of them developed acute pulsatile proptosis (case 2), while another experienced slow progressive diplopia (case 3). In one case vascular lesions were bilateral (case 3) and in two patients two different lesions coexisted in the same orbit (cases 1 and 2). All patients underwent surgical excision, which was partial in two cases. Two patients had cavernous hemangiomas in association with a venous malformation (a varix in case 1 and a lymphangioma in case 2), while in the other ones (case 3) cavernous hemangioma was associated with a low-flow arteriovenous malformation. No patient denied visual impairment postoperatively. Few cases of orbital cavernous hemangiomas coexisting with other vascular malformations have been reported in the literature. This entity seems to be an association of different variants of orbital vascular malformations, presenting with a wide spectrum of clinical forms and probably with the same pathogenesis. PMID:24750713

  16. The incidence of congenital malformations in children with cancer.

    PubMed

    Mutafo?lu-Uysal, Kamer; Günes, Dilek; Tüfekçi, Ozlem; Kalelihan-Cankal, Aydan; Sarialio?lu, Faik; Olgun, Nur

    2009-01-01

    We evaluated the incidence of congenital malformations in 566 children (median age: 8, M:F 1.3) with lymphomas and solid tumors using patient records. In this study, 12.7% of children either had a congenital malformation (7.8%) or a birthmark (4.9%). The incidence of patients with a childhood cancer syndrome was 3% and these cases developed typical tumors. The rate of consanguineous marriages was 12.6%, and family history of cancer was positive in 31.2%. Median age at cancer diagnosis, gender, maternal age, history of stillbirth and missed abortion, consanguinity of parents, and family history of cancer were not significantly different in cases with and without a congenital malformation. The most frequent cancers were central nervous system tumors and lymphomas. No remarkable association between a particular anomaly and a specific cancer type could be shown. The high incidence of congenital anomalies in this study may stimulate future large cohort studies in our country. PMID:20112599

  17. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  18. Cochlear implantation in patients with inner ear bone malformations with posterior labyrinth involvement: an exploratory study.

    PubMed

    Palomeque Vera, Juan Miguel; Platero Sánchez-Escribano, María; Gómez Hervás, Javier; Fernández Prada, María; González Ramírez, Amanda Rocío; Sainz Quevedo, Manuel

    2016-04-01

    Inner ear bone malformations are one cause of profound sensorineural hearing loss. This investigation focused on those affecting the posterior labyrinth, especially enlarged vestibular aqueduct syndrome, which is associated with fluctuating and progressive hearing loss. The objectives of this study were to analyze the behavior of the electrical stimulation, auditory functionality and linguistic development in patients with inner ear malformations involving the posterior labyrinth. The study included ten patients undergoing cochlear implantation (cases: five with enlarged vestibular aqueduct, two with vestibular aqueduct stenosis/aplasia, and three with semicircular canal disorders). Post-implantation, data were gathered on the electrical stimulation threshold and maximum comfort levels and on the number of functioning electrodes. Evaluation of Auditory Responses to Speech (EARS) subtests were used to assess auditory functionality and language acquisition at 6, 12, and 24 months post-implantation. Results were compared with findings in a control group of 28 cochlear implantation patients without these malformations. No significant differences were found between case and control groups in electrical stimulation parameters; auditory functionality subtest scores were lower in cases than controls, although the difference was only statistically significant for some subtests. In conclusion, cochlear implantation patients with posterior labyrinth bone malformations and profound hearing loss, including those with enlarged vestibular aqueduct syndrome, showed no significant difference in electrical stimulation threshold with controls. Although some auditory functionality test results were lower in cases than in controls, cochlear implantation appears to be beneficial for all patients with these malformations. PMID:25971996

  19. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

    Six patients with angiographically cryptic vascular malformations involving the brainstem were examined with computed tomography (CT). The clinical and CT findings of cryptic vascular malformations of the brainstem are described and distinguished from those of brainstem glioma and multiple sclerosis. Calcification within a brainstem lesion that displays relatively little mass effect and shows little contrast enhancement, particularly when associated with a long history of waxing and waning brainstem symptoms, should suggest a vascular malformation.

  20. [Prenatal diagnosis of central nervous system malformations].

    PubMed

    Langmár, Zoltán; Németh, Miklós; Csaba, Ákos; Szigeti, Zsanett; Joó, József Gábor

    2013-07-30

    The prenatal diagnosis of fetal malformations have been the subject of numerous publications in the literature. This has dramatically increased in the last 15 years, mainly due to the advent of high-resolution ultrasound. In addition adequate guidelines issued by professional organizations have encouraged the universal approach to the imaging of fetal anatomy as well as malformations. One of the most significant groups of the fetal anomalies is the central nervous system malformation. Due to its prevalence and severity the praenatal diagnostics of central nervous system malformations got basic significance. In this review we attempted to summarize the recent informations concerning the prenatal diagnostics of the central nervous system anomalies. PMID:23971353

  1. Nitrosatable drug exposure during the first trimester of pregnancy and selected congenital malformations

    PubMed Central

    Brender, Jean D.; Werler, Martha M; Shinde, Mayura U; Vuong, Ann M; Kelley, Katherine E.; Huber, John C.; Sharkey, Joseph R.; Griesenbeck, John S.; Romitti, Paul A.; Malik, Sadia; Suarez, Lucina; Langlois, Peter H.; Canfield, Mark A.

    2012-01-01

    BACKGROUND Nitrosatable drugs can react with nitrite in the stomach to form N-nitroso compounds, and results from animal studies suggest that N-nitroso compounds are teratogens. With data from the National Birth Defects Prevention Study, the relation between prenatal exposure to nitrosatable drugs and limb deficiencies, oral cleft, and heart malformations in offspring was examined. METHODS Maternal reports of drugs taken during the first trimester of pregnancy were classified with respect to nitrosatability for mothers of 741 babies with limb deficiencies, 2,774 with oral cleft malformations, 8,091 with congenital heart malformations, and 6,807 without major congenital malformations. Nitrite intake was estimated from maternal responses to a food frequency questionnaire. RESULTS Isolated transverse limb deficiencies and atrioventricular septal defects were associated with secondary amine drug exposures (adjusted odds ratios [aOR] 1.51, 95% confidence limit [CI] 1.11, 2.06 and aOR 1.97, 95% CI 1.19, 3.26, respectively). Tertiary amines were associated with hypoplastic left heart syndrome (aOR 1.50, 95% CI 1.10, 2.04) and single ventricle (aOR 1.61, 95% CI 1.06, 2.45). These two malformations were also significantly associated with amide drugs. For several malformations, the strongest associations with nitrosatable drug use occurred among mothers with the highest estimated dietary nitrite intake, especially for secondary amines and atrioventricular septal defects (highest tertile of nitrite, aOR 3.30, 95% CI 1.44, 7.58). CONCLUSION Prenatal exposure to nitrosatable drugs may be associated with several congenital malformations, especially with higher nitrite intake. The possible interaction between nitrosatable drugs and dietary nitrite on risk of congenital malformations warrants further attention. PMID:22903972

  2. Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

    PubMed

    Broome, M; Vial, Y; Jacquemont, S; Sergi, C; Kamnasaran, D; Giannoni, E

    2016-02-01

    Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia. PMID:23778189

  3. Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity?

    PubMed

    Kalani, M Yashar S; Zabramski, Joseph M; Martirosyan, Nikolay L; Spetzler, Robert F

    2016-03-01

    Vascular malformations of the central nervous system are thought to originate from abnormal developmental processes during embryogenesis. Reports have cited the dynamic nature of these lesions and their "maturation" into other types of malformations. Herein we report on three patients with vascular malformations who exhibited dynamic alterations with stepwise progression of their lesions. These cases lend support to the hypothesis that these malformations may constitute the spectrum of a single disease caused by alterations in a common developmental program and that accumulating injury (e.g., by radiation) may allow one malformation type to mature into another. This concept warrants further investigation. PMID:26743915

  4. Genetics Home Reference: Townes-Brocks Syndrome

    MedlinePLUS

    ... and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific ... malformation ; mutation ; obstruction ; prevalence ; protein ; renal ; sensorineural ; syndrome ; transcription You may find definitions for these and many ...

  5. Genetics Home Reference: Parkes Weber syndrome

    MedlinePLUS

    ... skin. They usually look like large, flat, pink stains on the skin, and because of their color are sometimes called "port-wine stains." In people with Parkes Weber syndrome, capillary malformations ...

  6. Cerebral dysplastic vascular malformation: a developmental arrest

    SciTech Connect

    Wortzman, G.; Sima, A.A.F.; Morley, T.P.

    1983-08-01

    A cryptic malformation of the brain was found to represent an arrest in vascular development. Microscopy showed plump endothelium of blood vessels, which did not have a normal lumen and consisted of solid cords of cells. The microscopic, angiographic, and computed tomographic appearance of this anomaly are discussed and compared with cavernous angiomas, arteriovenous malformations, and venous angiomas.

  7. Chiari I malformation presenting as chronic cough.

    PubMed

    Amos, Louella B; Quintero, Diana R

    2008-10-01

    We present a 9-month-old infant with persistent cough refractory to conventional asthma therapy. An extensive evaluation eventually revealed a Chiari I malformation with syringohydromyelia. His cough resolved one month after surgical decompression, suggesting that brainstem compression from the Chiari malformation directly caused his symptoms. PMID:18785260

  8. Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

    PubMed Central

    Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

    2013-01-01

    Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

  9. Fraser Syndrome.

    PubMed

    Saleem, Adnan Aslam; Siddiqui, Sorath Noorani

    2015-10-01

    Fraser's Syndrome (FS) is a rare autosomal recessive disorder with a spectrum of malformations. The most consistent features are Cryptophthalmos (CO), syndactyly, genitourinary tract abnormalities, laryngeal and tracheal anomalies, craniofacial dysmorphism, malformations of the ear and nose, orofacial clefting and musculoskeletal defects. FS is genetically heterogeneous; so far mutations in FRAS1, FREM2 and GRIP1 genes have been linked to FS. FS can be diagnosed on clinical examination, pre-natal ultrasound or perinatal autopsy. We present a case of a 3 months old child born to consanguineous healthy parents with bilateral complete CO, unilateral microphthalmia, hypertelorism, syndactyly (hands and feet bilaterally), ambiguous genitalia with cryptorchidism and an umbilical hernia. We also present the criteria for diagnosing FS and the significant features on pre-natal ultrasonography. Around 200 case reports of patients with FS and CO have been published. To our knowledge, this is the first reported case of FS in Pakistan. PMID:26522198

  10. New insights into craniofacial malformations.

    PubMed

    Twigg, Stephen R F; Wilkie, Andrew O M

    2015-10-15

    Development of the human skull and face is a highly orchestrated and complex three-dimensional morphogenetic process, involving hundreds of genes controlling the coordinated patterning, proliferation and differentiation of tissues having multiple embryological origins. Craniofacial malformations that occur because of abnormal development (including cleft lip and/or palate, craniosynostosis and facial dysostoses), comprise over one-third of all congenital birth defects. High-throughput sequencing has recently led to the identification of many new causative disease genes and functional studies have clarified their mechanisms of action. We present recent findings in craniofacial genetics and discuss how this information together with developmental studies in animal models is helping to increase understanding of normal craniofacial development. PMID:26085576

  11. Capillary malformations: a classification using specific names for specific skin disorders.

    PubMed

    Happle, R

    2015-12-01

    The name capillary malformation has caused much confusion because it is presently used to designate numerous quite different disorders such as naevus flammeus, the salmon patch, the vascular naevus of the hereditary 'megalencephaly-capillary malformation syndrome' and the skin lesions of non-hereditary traits such as 'capillary malformation-arteriovenous malformation' and 'microcephaly-capillary malformation'. To avoid such bewilderment, the present review describes the distinguishing clinical and genetic criteria of 20 different capillary malformations, and a specific name is given to all of them. The group of capillary naevi includes naevus flammeus, port-wine naevus of the Proteus type, port-wine naevus of the CLOVES type, naevus roseus, rhodoid naevus, cutis marmorata telangiectatica congenita, congenital livedo reticularis, segmental angioma serpiginosum, naevus anaemicus, naevus vascularis mixtus and angiokeratoma circumscriptum. Capillary lesions that perhaps represent naevi are the mesotropic port-wine patch, Carter-Mirzaa macules, unilateral punctate telangiectasia and unilateral naevoid telangiectasia of the patchy type. Capillary malformations that do not represent naevi include X-linked angiokeratoma corporis diffusum (Fabry disease), autosomal dominant angiokeratoma corporis diffusum, hereditary haemorrhagic telangiectasia, hereditary angioma serpiginosusm and the salmon patch. In this way, we are able to discriminate between various non-hereditary capillary naevi such as naevus roseus and the hereditary rhodoid naevus and several hereditary traits that do not represent naevi such as angiokeratoma corporis diffusum and hereditary haemorrhagic telangiectasia; between four different types of port-wine stains, three of them being lateralized and one being mesotropic; between cutis marmorata telangiectatica congenita and congenital livedo reticularis; between telangiectatic naevi and the vasoconstrictive naevus anaemicus; and between two different types of angiokeratoma corporis diffusum. Finally, arguments are presented why the salmon patch ('stork bite', 'naevus simplex') cannot be categorized as a naevus. PMID:25864701

  12. Malformations in Infants of Diabetic Mothers

    PubMed Central

    MILLS, JAMES L.

    2014-01-01

    Maternal insulin-dependent diabetes has long been associated with congenital malformations. As other causes of mortality and morbidity have been eliminated or reduced, malformations have become increasingly prominent. Although there is not universal agreement, the great majority of investigators find a two- to threefold increase in malformations in infants of insulin-dependent diabetic mothers. This increase is not seen in infants of gestational diabetics. It probably is not present in women whose diabetes can be controlled by diet or oral hypoglycemic agents. The risk does not appear to be primarily genetic since diabetic fathers do not have an increased number of malformed offspring. Most studies show a generalized increase in malformations involving multiple organ systems. Multiple malformations seem to be more common in diabetic than non-diabetic infants. Caudal regression has the strongest association with diabetes, occurring roughly 200 times more frequently in infants of diabetic mothers than in other infants. The teratogenic mechanism in diabetes is not known. Hyperglycemia may be important but human studies focusing on the period of organogenesis are lacking. Hypoglycemia has also been suggested based mainly on animal experiments. Insulin appears unlikely. Numerous other factors including vascular disease, hypoxia, ketone and amino acid abnormalities, glycosylation of proteins, or hormone imbalances could be teratogenic. None has been studied in sufficient detail to make a judgment. A large-scale prospective study is required to determine early fetal loss rates, correlate metabolic status during organogenesis with outcome, and assess the effect of diabetic control on malformation rates. PMID:20973049

  13. Jaffe-Campanacci syndrome.

    PubMed

    Steinmetz, J C; Pilon, V A; Lee, J K

    1988-01-01

    The case of a 15-year-old white boy with a clinical diagnosis of von Recklinghausen neurofibromatosis and a history of multiple fractures of long bones is presented. Radiographic studies and tissue biopsy revealed the presence of multiple nonossifying fibromas of bone. Review of the clinical features and correlation with the pathologic data support a diagnosis of Jaffe-Campanacci syndrome, a malformation syndrome different from but possibly related to von Recklinghausen neurofibromatosis. PMID:3139710

  14. Spinal dermoid sinus in a Dachshund with vertebral and thoracic limb malformations

    PubMed Central

    2014-01-01

    Background Dermoid sinus is an uncommon epithelial-lined fistula that may be associated with vertebral malformations. In humans, Klippel-Feil syndrome (KFS) is a rare condition characterized by congenital cervical vertebral fusion and may be associated with other developmental defects, including dermoid sinus. The present case report describes an adult Dachshund with cervical and cranial thoracic vertebral malformations as well as thoracic limb malformations resembling KFS with a concurrent type IV dermoid sinus. Case presentation A 1.5 year-old Dachshund with congenital thoracic limbs deformities and cervical-thoracic vertebral malformations presented with cervical hyperesthesia, rigidity of the cervical musculature and tetraparesis. Neurologic, radiographic, and computed tomography (CT) (2D, 3D, CT fistulography) examinations revealed skeletal anomalies, a dermoid sinus in the cranial thoracic region and epidural gas within the vertebral canal. Surgical resection and histopathological evaluation of the sinus tract were performed and confirmed a type IV dermoid sinus. The clinical signs progressively recovered postoperatively, and no recurrent signs were observed after 6 months of follow-up. Conclusions Cervical vertebral malformations associated with limbs anomalies have not been reported in dogs and may represent a condition similar to KFS in humans. KFS can occur concurrently with other congenital conditions including dermoid sinus and should be included among the complex congenital anomalies described in dogs. PMID:24593884

  15. [Acrania ultrasonography diagnosis: a rare embryologic malformation].

    PubMed

    Rezgui-Marhoul, Lamia; Saïd, Wassim; Dridi, Lassaad; Ben Farhat, Leila; Ben M'Rad, Salmen; Hendaoui, Lotfi

    2004-06-01

    The authors report a case of acrania diagnosed on antenatal period in a routine morphologic ultrasonography at 19 weeks of intra uterine gestation on a 20-year-old patient, gravida 1, para 0. Acrania associated with exencephaly is a rare and lethal malformation characterized by a defect of development of the flat bones of the scalp whereas cerebral tissue is present often abnormal. Ultrasonography had allowed to find besides the cerebral malformation, spinal and visceral fetal malformations as well as cord abnormality that included only two vessels. PMID:15517958

  16. Computed tomography of congenital brain malformations

    SciTech Connect

    Sarwar, M.

    1984-01-01

    This book is illustrated showing each condition. This book is designed to correlate the pathology of CNS malformations with their CT scan appearance, mainly on the axial images. The author has drawn upon his personal experience and the information gleaned from the literature dealing with the description of the CT scan findings of these malformations. The emphasis is on simplicity of description. Since a large degree of morphological variation exists in each entity, numerous illustrations (wherever applicable) are shown to depict those variations. When appropriate, deficiency of the CT scan in the evaluation of these CNS malformations also is indicated. A description of CNS embryology is included as well.

  17. Dexmedetomidine for an awake fiber-optic intubation of a parturient with Klippel-Feil syndrome, Type I Arnold Chiari malformation and status post released tethered spinal cord presenting for repeat cesarean section.

    PubMed

    Shah, Tanmay H; Badve, Manasi S; Olajide, Kowe O; Skorupan, Havyn M; Waters, Jonathan H; Vallejo, Manuel C

    2011-07-01

    Patients with Klippel-Feil Syndrome (KFS) have congenital fusion of their cervical vertebrae due to a failure in the normal segmentation of the cervical vertebrae during the early weeks of gestation and also have myriad of other associated anomalies. Because of limited neck mobility, airway management in these patients can be a challenge for the anesthesiologist. We describe a unique case in which a dexmedetomidine infusion was used as sedation for an awake fiber-optic intubation in a parturient with Klippel-Feil Syndrome, who presented for elective cesarean delivery. A 36-year-old female, G2P1A0 with KFS (fusion of cervical vertebrae) who had prior cesarean section for breech presentation with difficult airway management was scheduled for repeat cesarean delivery. After obtaining an informed consent, patient was taken in the operating room and non-invasive monitors were applied. Dexmedetomidine infusion was started and after adequate sedation, an awake fiber-optic intubation was performed. General anesthetic was administered after intubation and dexmedetomidine infusion was continued on maintenance dose until extubation. Klippel-Feil Syndrome (KFS) is a rare congenital disorder for which the true incidence is unknown, which makes it even rare to see a parturient with this disease. Patients with KFS usually have other congenital abnormalities as well, sometimes including the whole thoraco-lumbar spine (Type III) precluding the use of neuraxial anesthesia for these patients. Obstetric patients with KFS can present unique challenges in administering anesthesia and analgesia, primarily as it relates to the airway and dexmedetomidine infusion has shown promising result to manage the airway through awake fiberoptic intubation without any adverse effects on mother and fetus. PMID:24765318

  18. Antenatal diagnosis of aneurysmal malformation of the vein of Galen.

    PubMed

    Darji, Parth J; Gandhi, Viplav S; Banker, Hiral; Chaudhari, Hemang

    2015-01-01

    Vein of Galen malformation (VGAM) results from an aneurysmal aberration with an arteriovenous shunting of blood. Vein of Galen aneurysmal malformations are the most frequent arteriovenous malformations in infants and fetuses. The congenital malformation develops during weeks 6-11 of fetal development. Infants often die from high-output congestive heart failure. PMID:26643190

  19. Contribution of congenital malformation to perinatal mortality in Lagos, Nigeria.

    PubMed

    Abudu, O O; Uguru, V; Olude, O

    1988-08-01

    Over a 17-month period we prospectively recorded identifiable congenital malformations at delivery in singleton births in our hospital. Despite the prevailing religious and cultural belief we carried out autopsies in 41% of the perinatal deaths that occurred during the study period. Out of a total of 63 (21/1000 singleton births) congenital malformations discovered, 21 (33%) were identified at autopsy only. About 16% of total perinatal deaths were due to congenital malformation. Cardiovascular malformations accounted for about 40% of perinatal deaths from congenital malformations followed by central nervous system malformation (23.3%), gastrointestinal malformations (20%), musculo-skeletal malformations (6.7%); renal malformations (3.3%) and others (6.7%). No relationship between maternal age, parity and congenital malformation was found. The results from this study suggest that with the use of autopsy, teratology may contribute significantly to the prevailing high perinatal mortality in Lagos more than was previously thought. PMID:2905300

  20. Current concepts in lymphatic malformation.

    PubMed

    Lee, B B; Kim, Y W; Seo, J M; Hwang, J H; Do, Y S; Kim, D I; Byun, H S; Lee, S K; Huh, S H; Hyun, W S

    2005-01-01

    A lymphatic malformation (LM) is the most common form of congenital vascular malformation (CVM). The new Hamburg classification of CVM distinguishes the truncular (T) form from the extratruncular (ET) form of LMs. Both are consequences of a developmental arrest at the different stages of lymphangiogenesis as a result of defective genes. The purpose of this review was to evaluate the current management results of both forms of LMs. A retrospective review of the clinical data of 315 patients with a diagnosis of LMs treated between September 1994 and December 2001 was performed. Lymphoscintigraphy was the most frequent diagnostic test. The patients with the ET form were treated with sclerotherapy with OK-432 and/or ethanol. Combinations of CDP (complex decongestive physiotherapy) and/or compressotherapy were used to treat all the T-form patients. In addition, surgery, either reconstructive or ablative, was offered to patients with the T form who failed to respond to the proper CDP. A multidisciplinary team performed the management of LM, and the results were evaluated every 6 months. Among 797 patients with CVM, 315 were confirmed to have LMs, either as the T form (226) or the ET form (89). Another 66 LMs were diagnosed with hemolymphatic malformations (HLM). Most of the ET forms (89/315) were the cystic type (70/89), while the T forms included aplasia and/or an obstruction (204/226). The ET form was most frequent in the head, neck, and thorax (69/89). The T form was located most frequently to the extremities (202/226), mostly to the lower limb (180/202). Two hundred and twenty-six T forms belonged to the various clinical stages: stages I-32, II-104, III-48, IV-18, and an unclear stage-24. The ET form was treated with sclerotherapy using OK-432 (108/120) and absolute ethanol (12/120). Among the 11 patients with the multiple ET form, 7 patients underwent perioperative sclerotherapy with OK-432 and a subsequent surgical excision. The clinical response of the T form at the extremity to CDP was excellent to good in a majority of clinical stages I to II (121/136) but decreased to a good to fair degree in stages III to IV (31/66). The additional surgical therapy, either reconstructive (10/19) or ablative (9/19), provided limited success in improving CDP efficacy, owing mainly to poor compliance. The long-term outcome of the initial success through self-motivated home-maintenance care during the follow-up period of up to 48 months was totally dependent on patient compliance. OK-432 sclerotherapy to 51 ET forms has shown excellent results on 88.9% of the cystic type (40/45) and 50% (3/6) of the cavernous type (minimum follow-up for 24 months). Seventeen ET forms in 7 patients were treated with a preoperative OK-432 sclerotherapy and a subsequent surgical excision, which provided good to excellent results in 14 for a minimum of 24 months. Primary lymphedema, which is the T form of LMs, can be managed safely by a combination of CDP with compressotherapy. Patients with good compliance can benefit from additional surgical therapy, either reconstructive or ablative. The ET form, particularly the cystic type, can be treated with various scleroagents that are preferably less toxic as the primary therapy. A surgical excision with or without perioperative sclerotherapy provides good results for patients with the localized cavernous type of the ET form. A multidisciplinary team approach is essential for the proper care of LM. PMID:15696250

  1. Genetics Home Reference: Dandy-Walker malformation

    MedlinePLUS

    ... right halves of the brain (agenesis of the corpus callosum), a sac-like protrusion of the brain through ... Walker malformation? agenesis ; atresia ; brainstem ; cell ; cerebellum ; chromosome ; corpus callosum ; diabetes ; disabilities ; disability ; fetus ; gait ; hydrocephalus ; hypoplasia ; imaging ; ...

  2. What Is an Arteriovenous Malformation (AVM)?

    MedlinePLUS

    ... the rest of the body. Are there different types of brain AVMs? All blood vessel malformations involving the brain ... taken of all the blood vessels in the brain. For any type of treatment involving an AVM, an angiogram may ...

  3. Glomuvenous malformation: magnetic resonance imaging findings.

    PubMed

    Flors, Lucia; Norton, Patrick T; Hagspiel, Klaus D

    2015-02-01

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. PMID:24996811

  4. Genetics Home Reference: Cerebral cavernous malformation

    MedlinePLUS

    ... and they lack other support tissues, such as elastic fibers, which normally make them stretchy. As a ... cell ; central nervous system ; cerebral hemorrhage ; CNS ; cutaneous ; elastic ; familial ; family history ; gene ; hemangioma ; hemorrhage ; inheritance ; malformation ; ...

  5. Genetic analysis of malformations causing perinatal mortality.

    PubMed

    Young, I D; Rickett, A B; Clarke, M

    1986-02-01

    An analysis of congenital malformations, other than neural tube defects, which have contributed to perinatal mortality in Leicestershire is presented for the years 1976 to 1982 inclusive. Chromosomal, single gene, or polygenic inheritance accounted for 67% of cases. PMID:3950936

  6. Genetic analysis of malformations causing perinatal mortality.

    PubMed Central

    Young, I D; Rickett, A B; Clarke, M

    1986-01-01

    An analysis of congenital malformations, other than neural tube defects, which have contributed to perinatal mortality in Leicestershire is presented for the years 1976 to 1982 inclusive. Chromosomal, single gene, or polygenic inheritance accounted for 67% of cases. PMID:3950936

  7. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

    Malformations of the head and neck show a huge variety of clinical symptoms with functional and esthetic consequences. Often times its rehabilitation requires multi-staged and multi-disciplinary procedures and concepts. These must consider eating, speech, mimic expression, hearing and “esthetics” or at least “normality”. A survey of the most common head and neck malformations and their treatment options are presented here. PMID:25587361

  8. Imaging diagnosis--split cord malformation.

    PubMed

    Zani, Davide D; De Zani, Donatella; Morandi, Nicola; Biggi, Marianna; Belloli, Angelo G; Riccaboni, Pietro; Rondena, Marco; Di Giancamillo, Mauro; Pravettoni, Davide

    2010-01-01

    The features of a calf with a split cord malformation are described. Clinically, there was severe cervicothoracic kyphoscoliosis and an interscapular dermal sinus associated with cerebrospinal fluid drainage. Using magnetic resonance imaging, complete duplication of the spinal cord at the cervical intumescence was detected. There was associated syringohydromyelia, multiple cervicothoracic vertebral malformations resulting in kyphoscoliosis and rachischisis, herniation of the cerebellar vermis, meningoencephalocele, and calvarial defects. PMID:20166395

  9. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

    PubMed Central

    de León Ojeda, Norma Elena; Soriano-Torres, Michel; Cabrera, Mercedes J.; Benítez Ramos, Dunia Bárbara

    2012-01-01

    We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chromosome analysis showed 46, XY, del(4)(q31.3) de novo. The only reported case with the same deletion was a male newborn that exhibited the pattern of minor anomalies of deletion 4q31 syndrome. The parents were cytogenetically normal. We compare clinical signs to other cases with a deletion in long arm of chromosome 4. PMID:23320208

  10. Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.

    PubMed

    Zaki, Maha S; Masri, Amira; Gregor, Anne; Gleeson, Joseph G; Rosti, Rasim Ozgur

    2015-11-01

    We report on two families, each with documented consanguinity and two affected with overlapping features of Dandy-Walker malformation, genitourinary abnormalities, intellectual disability, and hearing deficit. This phenotype shares similar findings with many well-known syndromes. However, the clinical findings of this syndrome categorize this as a new syndrome as compared with the phenotype of already established syndromes. Due to parental consanguinity, occurrence in siblings of both genders and the absence of manifestations in obligate carrier parents, an autosomal recessive pattern of inheritance is more likely. The authors believe that these families suggest a novel autosomal recessive cerebello-genital syndrome. Array CGH analyses of an affected did not show pathological deletions or duplications. © 2015 Wiley Periodicals, Inc. PMID:26109232

  11. Chiari 1.5 Malformation : An Advanced Form of Chiari I Malformation

    PubMed Central

    Kim, In-Kyeong; Wang, Kyu-Chang; Kim, In-One

    2010-01-01

    The Chiari 1.5 malformation is defined as a tonsillar herniation within a Chiari I malformation with additional caudal descent of the brainstem through the foramen magnum. We describe a patient with Chiari I malformation who evolved to Chiari 1.5 malformation during longitudinal follow-up. A 15-year-old girl presented with neck pain during exercise for two years. She had been diagnosed with Chiari I malformation with mild hydrocephalus after minor cervical trauma at the age of six years. At that time, she was asymptomatic. After she complained of aggravated neck pain, neuroimaging (nine years after first imaging) revealed caudal descent of the brainstem and syringomyelia in addition to progression of tonsillar herniation. Posterior fossa decompressive surgery resulted in complete resolution of neck pain. Based on neuroimaging and operative findings, she was diagnosed as Chiari 1.5 malformation. Neuroimaging performed seven months after surgery showed an increased anterior-posterior diameter of the medulla oblongata and markedly decreased syringomyelia. This case demonstrates progressive developmental process of the Chiari 1.5 malformation as an advanced form of the Chiari I malformation. PMID:21113370

  12. PHACES syndrome and ectopia cordis.

    PubMed

    Lopez-Gutierrez, Juan Carlos

    2011-04-01

    PHACES syndrome is a spectrum of anomalies, P, posterior fossa anomalies as Dandy-Walker malformation; H, hemangioma; A, arterial lesions of the head and neck (the most commonly detected include dysplasia, aberrant origin or course, hypoplasia, and absence or agenesis); C, cardiac abnormalities as aortic coarctation; E, abnormalities of the eye and S, sternal defect, that may be present in up to 2% of children with facial hemangiomas and 20% of children with segmental facial hemangiomas. The constellation of PHACES syndrome symptoms may vary significantly between different patients. Major and minor criteria for PHACES syndrome have been recently described in order to improve their classification and management. We report the case of a newborn with PHACES syndrome, who had additional congenital defects including ectopia cordis as the most severe form of midline defect. Although the list and variety of published cardiac malformations in PHACES syndrome are extensive, ectopia cordis has not been previously reported. PMID:21248081

  13. Delayed presentation of anorectal malformations

    PubMed Central

    Sinha, Shandip Kumar; Kanojia, Ravi P.; Wakhlu, Ashish; Rawat, J. D.; Kureel, S. N.; Tandon, R. K.

    2008-01-01

    Aims and Objectives: Delayed management of anorectal malformation (ARM) increases the surgical and functional complications for the patient. We defined “delayed presentation of ARM” and reviewed our patients with ARM to find out the incidence and causes of delayed presentation. Materials and Methods: Patients satisfying the criteria of “delayed presentation of ARM” were involved. Detailed information of each patient including the mode of presentation, associated anomalies, plan of management and follow-up was obtained from the hospital records. Results: Between 2003 and 2006, 43 patients satisfied our criteria of “delayed presentation of ARM”. There were 21 males and 22 females. Seventeen of these males presented with low-type ARM. Eleven of them were managed by a single-stage procedure. These “delayed presenters” had to live with constipation, inadequate weight gain and parental anxiety for a greater time. Analysis of the outcomes showed more functional complications in patients who had undergone failed perineal surgery previously. In females with low ARM, the procedure of choice was anterior sagittal anorectoplasty (ASARP). Single stage surgery provides good outcomes for most of low type of ARMs. High-type ARMs in males and females were managed by a staged procedure. Conclusion: “Delayed presentation of ARM” is a major group of ARM in our setup. The management and results of their treatment are not different from those of the early presenters. The most common cause of delayed ARM is wrong advice given by the health care providers followed by inadequate treatment elsewhere. Corrective surgeries taking second attempt in perineum always produces poor outcomes. PMID:20011470

  14. Arteriovenous Malformations in the Brain.

    PubMed

    Graham, Glenn D.

    2002-11-01

    Arteriovenous malformations (AVM) are a leading cause of intracerebral hemorrhage, especially among the young. Because they pose a lifelong risk of serious bleeding, definitive treatment to obliterate the AVM should be pursued in the majority of patients. Microsurgical resection of a small AVM located in the superficial or non- eloquent brain achieves high cure rates with low morbidity, and is the recommended choice for such lesions. Radiosurgery with gamma knife, linear accelerator, or heavy ion beam irradiation is an alternative therapy for AVM treatments less than 3 centimeters in diameter located in brain regions where surgery is likely to produce major neurologic deficits, or for patients unable or unwilling to undergo craniotomy and resection. Cure rates are lower than with microsurgery, and obliteration of the lesion may take 2 to 3 years, during which time the patient remains at risk for hemorrhage. Because rates of recurrent hemorrhage are higher than rates of initial bleeding, radiosurgery may be a good option for patients who have not yet had an intracranial hemorrhage. Endovascular embolization as sole therapy is curative only in a small percentage of cases, but is recommended as part of a multimodal approach to reduce the size of a large AVM, and decrease bleeding risk of lesions with multiple or inaccessible feeding vessels or associated aneurysms prior to surgery or radiotherapy. Currently, treatment decisions must rely solely on Class III evidence from case series and expert opinion. Randomized clinical trials are needed to provide objective guidelines for the future management of patients with an AVM. PMID:12354370

  15. Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

    PubMed Central

    Verloes, A; Aymé, S; Gambarelli, D; Gonzales, M; Le Merrer, M; Mulliez, N; Philip, N; Roume, J

    1991-01-01

    A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely. Images PMID:1865466

  16. Meckel syndrome.

    PubMed Central

    Salonen, R; Paavola, P

    1998-01-01

    Meckel syndrome (MKS) is a lethal syndrome with a central nervous system malformation, usually occipital meningoencephalocele, bilaterally large multicystic kidneys with fibrotic changes of the liver, and polydactyly in most cases. Additional anomalies are frequent. A common characteristic of the parenchymal changes of many organs is a proliferation of the stromal connective tissue and increase and dilatation of the associated epithelial ducts. Autosomal recessive inheritance is well confirmed and the gene locus has been mapped to chromosome 17q21-24 by genome wide linkage study. The locus was later refined to within a less than 1 cM region (17q22), in which most of the Finnish MKS patients share a common chromosomal haplotype suggesting one major and relatively old mutation. However, in most of the non-Finnish MKS families studied, this linkage could not be confirmed. The linkage studies provide evidence that more than one locus is involved in bringing about the combination of CNS malformations, cystic kidneys, and polydactyly, maybe even in typical cases of MKS. Prenatal diagnosis of MKS by vaginal ultrasound scan is possible from 11-12 weeks of pregnancy, especially in families where there is a known risk. In those families where linkage to 17q22 is established, prenatal diagnosis by DNA analysis is possible. Images PMID:9643292

  17. Congenital Pseudohorseshoe Lung Associated with Scimitar Syndrome

    PubMed Central

    Tosun, Alptekin; Leblebisatan, Serife

    2012-01-01

    Horseshoe lung is a congenital pulmonary malformation that is usually associated with scimitar syndrome. This malformation consists of fusion of both pulmonary lobes from the posterobasal segments. The fusion appears in the retrocardiac area, in front of the esophagus and thoracic aorta. Pleural separation of pulmonary lobes distinguishes pseudohorseshoe appearance from a true horseshoe lung. Scimitar syndrome known as hypogenetic lung syndrome is a part of the congenital pulmonary venolobar syndrome. It is a partial anomalous pulmonary venous return with pulmonary hypoplasia. Scimitar vein is an anomalous drainage vessel between the right pulmonary lobe vessels and the inferior vena cava. The appearance of the vessel resembles Turkish scimitar; therefore, the syndrome is called scimitar syndrome. We hereby report a 61-year-old woman with adult form congenital scimitar syndrome and will describe the imaging findings of pseudohorseshoe lung appearance. PMID:23329972

  18. Klippel-Trenaunay Syndrome with Extensive Lymphangiomas

    PubMed Central

    Mneimneh, Sirin; Tabaja, Ali; Rajab, Mariam

    2015-01-01

    Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trenaunay syndrome with limb hypertrophy, port-wine stains, lymphangiomas, and venous varicosities in the limbs. PMID:26587303

  19. Klippel-Trenaunay Syndrome with Extensive Lymphangiomas.

    PubMed

    Mneimneh, Sirin; Tabaja, Ali; Rajab, Mariam

    2015-01-01

    Klippel-Trenaunay syndrome (KTS) is a rare disorder characterized by the triad of vascular malformations, venous varicosities, and bone and soft-tissue hypertrophy. We present a case of Klippel-Trenaunay syndrome with limb hypertrophy, port-wine stains, lymphangiomas, and venous varicosities in the limbs. PMID:26587303

  20. Phlébolithes révélant des malformations veineuses multiples de la jambe: à propos d'un cas et revue de la littérature

    PubMed Central

    Yacoubi, Hicham

    2013-01-01

    Les auteurs rapportent le cas d'une jeune patiente de 27 ans, opérée dans l'enfance pour pied bot varus équin gauche, qui consulte dans notre formation pour syndrome douloureux aigu de la jambe gauche, sans notion de traumatisme. Le bilan radiographique standard a révélé de multiples phlébolithes disséminées dans les parties molles de la jambe, révélant des malformations veineuses profondes, confirmées par angioscanner et IRM. Une biopsie exérèse d'une masse à la face interne du 13 supérieur a confirmé le diagnostic histologique de malformation veineuse avec ablation de la calcification et d'un thrombus. PMID:24198893

  1. Anorectal Malformation: Paediatric Problem Presenting in Adult

    PubMed Central

    Chavan, Rahulkumar N.; Chikkala, Bhargav; Das, Cinjini; Biswas, Somak; Sarkar, Diptendra Kumar; Pandey, Sushil Kumar

    2015-01-01

    This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM). So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP) anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly's score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation. PMID:26539301

  2. Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations

    PubMed Central

    Cid, Elena; Gomez-Dominguez, Daniel; Martin-Lopez, David; Gal, Beatriz; Laurent, François; Ibarz, Jose M.; Francis, Fiona; Menendez de la Prida, Liset

    2014-01-01

    Developmental cortical malformations comprise a large spectrum of histopathological brain abnormalities and syndromes. Their genetic, developmental and clinical complexity suggests they should be better understood in terms of the complementary action of independently timed perturbations (i.e., the multiple-hit hypothesis). However, understanding the underlying biological processes remains puzzling. Here we induced developmental cortical malformations in offspring, after intraventricular injection of methylazoxymethanol (MAM) in utero in mice. We combined extensive histological and electrophysiological studies to characterize the model. We found that MAM injections at E14 and E15 induced a range of cortical and hippocampal malformations resembling histological alterations of specific genetic mutations and transplacental mitotoxic agent injections. However, in contrast to most of these models, intraventricularly MAM-injected mice remained asymptomatic and showed no clear epilepsy-related phenotype as tested in long-term chronic recordings and with pharmacological manipulations. Instead, they exhibited a non-specific reduction of hippocampal-related brain oscillations (mostly in CA1); including theta, gamma and HFOs; and enhanced thalamocortical spindle activity during non-REM sleep. These data suggest that developmental cortical malformations do not necessarily correlate with epileptiform activity. We propose that the intraventricular in utero MAM approach exhibiting a range of rhythmopathies is a suitable model for multiple-hit studies of associated neurological disorders. PMID:24782720

  3. Cardiac and non-cardiac malformations produced by Mercury in hamsters. [None

    SciTech Connect

    Gale, T.F.

    1980-11-01

    The susceptibility of the developing mammalian embryo to the adverse effects of mercury is well documented. A variety of organic mercury compounds have been demonstrated to produce embryotoxic effects in experimental animals. HARADA recently summarized the reports of human intrauterine methylmercury poisoning, i.e., congenital Minamata disease, resulting from the ingestion of contaminated food. Ongoing studies in this laboratory have involved several different aspects of the embryotoxicity produced by inorganic mercury in hamsters including a dose response study, the interaction of mercuric acetate with cadmium and zinc, the effect of different routes of administration, the placental permeability of /sup 203/Hg and the embryotoxic response in several different hamster strains. Little is known regarding a human syndrome of congenital malformations characterized by ectopia cordis, internal cardiac defects and abnormalities of the diaphragm and ventral body wall. Most papers regarding this human syndrome are clinical reports describing the characteristics and management of specific cases; only speculative information is provided regarding etiology and possible embryopathic mechanisms. The observation that a similar syndrome, which will be designated CNC for cardiac and non-cardiac malformations, can be produced by mercury in hamsters prompted the present study. The specific goals of this study were 1) to study the effect of treating pregnant hamsters at different times during embryonic organogenesis to determine the time which produces the highest incidence of the CNC syndrome and whether different treatment times modify the morphological characteristics of the inclusive malformations and 2) to study the structural features of all mercury-induced external and internal abnormalities of the CNC syndrome in late gestation fetuses.

  4. Antenatal diagnosis of Seckel Syndrome: a rare case report

    PubMed Central

    Vascone, Carmine; Di Meglio, Filippo; Di Meglio, Letizia; Turco, Luigi Carlo Lo; Vitale, Salvatore Giovanni; Cignini, Pietro; Marilli, Ilaria; Rapisarda, Agnese Maria Chiara; Valenti, Gaetano; Cianci, Stefano

    2014-01-01

    Introduction Seckel Syndrome is a rare autosomal recessive disorder characterized by dwarfism, microcephaly and the absence of visceral malformations. Case report we observed sonographic features of a Seckel Syndrome, in a patient during the 24th week of pregnancy. Her family history was negative for malformation and chromosomal disorders. The diagnosis was later confirmed by molecular tests. Conclusion diagnosis should be made only by expert operators. Karyotype analysis is essential to confirm the diagnosis. PMID:26266004

  5. Vascular malformations: localized defects in vascular morphogenesis.

    PubMed

    Brouillard, P; Vikkula, M

    2003-05-01

    Vascular anomalies are localized defects of the vasculature, and usually affect a limited number of vessels in a restricted area of the body. They are subdivided into vascular malformations and vascular tumours. Most are sporadic, but Mendelian inheritance is observed in some families. By genetic analysis, several causative genes have been identified during the last 10 years. This has shed light into the pathophysiological pathways involved. Interestingly, in most cases, the primary defect seems to affect the characteristics of endothelial cells. Only mutations in the glomulin gene, responsible for hereditary glomuvenous malformations, are thought to directly affect vascular smooth-muscle cells. PMID:12752563

  6. Extrapyramidal dysfunction with cerebral arteriovenous malformations 1

    PubMed Central

    Lobo-Antunes, Joao; Yahr, Melvin D.; Hilal, Sadek K.

    1974-01-01

    Arteriovenous malformations have only rarely been implicated as a cause of basal ganglia dysfunction. In four instances where such a lesion was uncovered, abnormal involuntary movements were present. In two, tremor involving the contralateral limbs occurred, while in others the head and neck were involved in dystonic movements and posture. The clinical and angiographic characteristics of these four patients have been assessed and are presented in detail in this report. The possible mechanism by which arteriovenous malformations may disturb the internal circuitry of the basal ganglia and induce symptoms are discussed. Images PMID:4829531

  7. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    Cornelis, F.; Neuville, A.; Labreze, C.; Kind, M.; Bui, B.; Midy, D.; Palussiere, J.; Grenier, N.

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  8. Congenital cystic adenomatoid malformation type I

    PubMed Central

    Ribeiro, Frederico Becker; Schultz, Regina

    2015-01-01

    Congenital cystic adenomatoid malformation (CCAM) is an hamartomatous congenital pulmonary airway malformation with incidence ranging between 1:10,000 and 1:35,000 newborns. Currently CCAM is classified into five groups according to clinical and pathological features. The clinical outcome varies depending on the subtype and the extent of involvement. The authors report the case of a premature male newborn with the prenatal diagnosis of CCAM Type 1 associated with cardiac right axis deviation, who died 67 hours after birth due to respiratory failure. In addition to the autopsy report of this rare entity, the authors present its classification and prognosis. PMID:26558243

  9. CT of congenital malformations of the lung.

    PubMed

    Mata, J M; Cáceres, J; Lucaya, J; García-Conesa, J A

    1990-07-01

    We reviewed 40 cases of congenital malformations of the lung that were studied with both plain radiography and computed tomography (CT). We compared the CT findings with those of radiography. We found that CT was helpful in the management of these cases because it helped confirm the diagnosis, demonstrated unsuspected findings, and better depicted anatomic extent of anomalies, thus allowing better planning for surgery. We believe that CT is the method of choice for the study of congenital lung malformations and that it should be used before more invasive procedures such as bronchography or aortography. PMID:2377765

  10. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    EPA Science Inventory

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  11. A Single-Center Experience of CNS Anomalies or Neural Tube Defects in Patients With Jarcho-Levin Syndrome.

    PubMed

    Demir, Nihat; Peker, Erdal; Gül?en, ?smail; A?engin, Kemal; Kaba, Sultan; Tuncer, O?uz

    2016-03-01

    Jarcho-Levin syndrome (JLS) is a genetic disorder characterized by distinct malformations of the ribs and vertebrae, and/or other associated abnormalities such as neural tube defect, Arnold-Chiari malformation, renal and urinary abnormalities, hydrocephalus, congenital cardiac abnormalities, and extremity malformations. The study included 12 cases at 37-42 weeks of gestation and diagnosed to have had Jarcho-Levin syndrome, Arnold-Chiari malformation, and meningmyelocele. All cases of Jarcho-Levin syndrome had Arnold-Chiari type 2 malformation; there was corpus callosum dysgenesis in 6, lumbosacral meningmyelocele in 6, lumbal meningmyelocele in 3, thoracal meningmyelocele in 3, and holoprosencephaly in 1 of the cases. With this article, the authors underline the neurologic abnormalities accompanying Jarcho-Levin syndrome and that each of these abnormalities is a component of Jarcho-Levin syndrome. PMID:26239489

  12. [Lymphatic malformations in the head and neck area].

    PubMed

    Wiegand, S; Werner, J A

    2016-02-01

    Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies. PMID:26820157

  13. Joubert syndrome labeled as hypotonic cerebral palsy

    PubMed Central

    Dekair, Lubna H.; Kamel, Hussein; El-Bashir, Haitham O.

    2014-01-01

    Joubert syndrome (JS) is a rare autosomal recessive disorder with cerebellar vermis hypoplasia and complex brainstem malformation. The diagnosis of cases can be difficult as the presentation can be similar to cases of cerebral palsy. We present a case of JS in an 18-month-old girl who presented to pediatric rehabilitation with a diagnosis of hypotonic cerebral palsy and abnormal eye movements. The brain MRI confirmed the typical brain malformations. PMID:24983287

  14. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

    PubMed

    Whitman, Mary C; Andrews, Caroline; Chan, Wai-Man; Tischfield, Max A; Stasheff, Steven F; Brancati, Francesco; Ortiz-Gonzalez, Xilma; Nuovo, Sara; Garaci, Francesco; MacKinnon, Sarah E; Hunter, David G; Grant, P Ellen; Engle, Elizabeth C

    2016-02-01

    One set of missense mutations in the neuron specific beta tubulin isotype 3 (TUBB3) has been reported to cause malformations of cortical development (MCD), while a second set has been reported to cause isolated or syndromic Congenital Fibrosis of the Extraocular Muscles type 3 (CFEOM3). Because TUBB3 mutations reported to cause CFEOM had not been associated with cortical malformations, while mutations reported to cause MCD had not been associated with CFEOM or other forms of paralytic strabismus, it was hypothesized that each set of mutations might alter microtubule function differently. Here, however, we report two novel de novo heterozygous TUBB3 amino acid substitutions, G71R and G98S, in four patients with both MCD and syndromic CFEOM3. These patients present with moderately severe CFEOM3, nystagmus, torticollis, and developmental delay, and have intellectual and social disabilities. Neuroimaging reveals defective cortical gyration, as well as hypoplasia or agenesis of the corpus callosum and anterior commissure, malformations of hippocampi, thalami, basal ganglia and cerebella, and brainstem and cranial nerve hypoplasia. These new TUBB3 substitutions meld the two previously distinct TUBB3-associated phenotypes, and implicate similar microtubule dysfunction underlying both. © 2015 Wiley Periodicals, Inc. PMID:26639658

  15. The surgery for blue rubber bleb nevus syndrome

    PubMed Central

    Li, Zhi; Yuan, Hongyao; Yu, Donghai; Victor, Ngotta; Chen, Yongjun; Feng, Jiexiong; Teitelbaum, Daniel; Sun, Xiaoyi

    2015-01-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular anomaly syndrome consisting of multifocal venous malformations (VM). The malformations are most. prominent in the skin, soft tissues and gastrointestinal (GI) tract. Chronic bleeding induced by the vascular malformation (VM) lesions in gastrointestinal (GI) tract was the main clinical problem which should be treated. In this paper, two patients with BRBNS were treated by surgery for gastrointestinal bleeding. Our results indicated the endoscope examination was the best diagnostic way for VM in GI. Although many therapeutic methods have been tried, aggressive surgical eradication was the most effective for venous anomalies that cause GI bleeding in BRBNS. PMID:26900459

  16. The surgery for blue rubber bleb nevus syndrome.

    PubMed

    Li, Zhi; Yuan, Hongyao; Yu, Donghai; Victor, Ngotta; Chen, Yongjun; Feng, Jiexiong; Teitelbaum, Daniel; Sun, Xiaoyi

    2016-02-01

    Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular anomaly syndrome consisting of multifocal venous malformations (VM). The malformations are most. prominent in the skin, soft tissues and gastrointestinal (GI) tract. Chronic bleeding induced by the vascular malformation (VM) lesions in gastrointestinal (GI) tract was the main clinical problem which should be treated. In this paper, two patients with BRBNS were treated by surgery for gastrointestinal bleeding. Our results indicated the endoscope examination was the best diagnostic way for VM in GI. Although many therapeutic methods have been tried, aggressive surgical eradication was the most effective for venous anomalies that cause GI bleeding in BRBNS. PMID:26900459

  17. Differential Gene Expression in Human Cerebrovascular Malformations

    PubMed Central

    Shenkar, Robert; Elliott, J. Paul; Diener, Katrina; Gault, Judith; Hu, Ling-Jia; Cohrs, Randall J.; Phang, Tzulip; Hunter, Lawrence; Breeze, Robert E.; Awad, Issam A.

    2009-01-01

    OBJECTIVE We sought to identify genes with differential expression in cerebral cavernous malformations (CCMs), arteriovenous malformations (AVMs), and control superficial temporal arteries (STAs) and to confirm differential expression of genes previously implicated in the pathobiology of these lesions. METHODS Total ribonucleic acid was isolated from four CCM, four AVM, and three STA surgical specimens and used to quantify lesion-specific messenger ribonucleic acid expression levels on human gene arrays. Data were analyzed with the use of two separate methodologies: gene discovery and confirmation analysis. RESULTS The gene discovery method identified 42 genes that were significantly up-regulated and 36 genes that were significantly down-regulated in CCMs as compared with AVMs and STAs (P = 0.006). Similarly, 48 genes were significantly up-regulated and 59 genes were significantly down-regulated in AVMs as compared with CCMs and STAs (P = 0.006). The confirmation analysis showed significant differential expression (P < 0.05) in 11 of 15 genes (angiogenesis factors, receptors, and structural proteins) that previously had been reported to be expressed differentially in CCMs and AVMs in immunohistochemical analysis. CONCLUSION We identify numerous genes that are differentially expressed in CCMs and AVMs and correlate expression with the immunohistochemistry of genes implicated in cerebrovascular malformations. In future efforts, we will aim to confirm candidate genes specifically related to the pathobiology of cerebrovascular malformations and determine their biological systems and mechanistic relevance. PMID:12535382

  18. Genetic basis of congenital cardiovascular malformations

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the la...

  19. HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina.

    PubMed

    Ekici, Arif B; Strissel, Pamela L; Oppelt, Patricia G; Renner, Stefan P; Brucker, Sara; Beckmann, Matthias W; Strick, Reiner

    2013-04-15

    Congenital genital malformations occurring in the female population are estimated to be 5 per 1000 and associate with infertility, abortion, stillbirth, preterm delivery and other organ abnormalities. Complete aplasia of the uterus, cervix and upper vagina (Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome) has an incidence of 1 per 4000 female live births. The molecular etiology of congenital genital malformations including MRKH is unknown up to date. The homeobox (HOX) genes HOXA10 and HOXA13 are involved in the development of human genitalia. In this investigation, HOXA10 and HOXA13 genes of 20 patients with the MRKH syndrome, 7 non-MRKH patients with genital malformations and 53 control women were sequenced to assess for DNA variations. A total of 14 DNA sequence variations (10 novel and 4 known) within exonic and untranslated regions were detected in HOXA10 and HOXA13 among our cohorts. Four HOXA10 and two HOXA13 DNA sequence variations were found solely in patients with genital malformations. In addition to mutations resulting in synonymous amino acid substitutions, in the HOXA10 gene a missense mutation was identified and predicted by computer analysis as probably damaging to protein function in two non-MRKH patients, one with a bicornate and the other patient with a septated uterus. A novel exonic HOXA10 cytosine deletion was also identified in a non-MRKH patient with a septate uterus and renal malformations resulting in a premature stop codon and loss of the homeodomain helix 3/4. This cytosine deletion and the missense mutation in HOXA10 were analysed by real time PCR and sequencing, respectively, in two additional larger cohorts of 103 patients with MRKH and 109 non-MRKH patients with genital malformations. No other patients were found with the cytosine deletion however one additional patient was identified regarding the missense mutation. Rare DNA sequence variations in the HOXA10 gene could contribute to the misdevelopment of female internal genitalia. PMID:23376215

  20. Two cases of hemihyperplasia-multiple lipomatosis syndrome and review of asymmetric hemihyperplasia syndromes.

    PubMed

    Craiglow, Brittany G; Ko, Christine J; Antaya, Richard J

    2014-01-01

    Hemihyperplasia-multiple lipomatosis syndrome (HHML) is a condition characterized by asymmetric nonprogressive overgrowth, multiple lipomas, and superficial vascular malformations. We present two cases of HHML to enhance the diagnostic acumen of dermatologists and avoid potential misdiagnosis of this rare but probably underrecognized entity. We also provide a brief review of asymmetric overgrowth syndromes, which have overlapping yet distinct clinical manifestations. PMID:23458125

  1. Case-control study of congenital malformations and occupational exposure to low-level ionizing radiation

    SciTech Connect

    Sever, L.E.; Gilbert, E.S.; Hessol, N.A.; McIntyre, J.M.

    1988-02-01

    In a case-control study, the authors investigated the association of parental occupational exposure to low-level external whole-body penetrating ionizing radiation and risk of congenital malformations in their offspring. Cases and controls were ascertained from births in two counties in southeastern Washington State, where the Hanford Site has been a major employer. A unique feature of this study was the linking of quantitative individual measurement of external whole-body penetrating ionizing radiation exposure of employees at the Hanford Site, using personal dosimeters, and the disease outcome, congenital malformations. The study population included 672 malformation cases and 977 matched controls from births occurring from 1957 through 1980. Twelve specific malformation types were analyzed for evidence of association with employment of the parents at Hanford and with occupational exposure to ionizing radiation. Two defects, congenital dislocation of the hip and tracheoesophageal fistula, showed statistically significant associations with employment of the parents at Hanford, but not with parental radiation exposure. Neural tube defects showed a significant association with parental preconception exposure, on the basis of a small number of cases. Eleven other defects, including Down syndrome, for which an association with radiation was considered most likely, showed no evidence of such an association. When all malformations were analyzed as a group, there was no evidence of an association with employment of the parents at Hanford, but the relation of parental exposure to radiation before conception was in the positive direction (one-tailed p value between 0.05 and 0.10). Given the number of statistical tests conducted, some or all of the observed positive correlations are likely to represent false positive findings. 30 references.

  2. A locus for cerebral cavernous malformations maps to chromosome 7q in two families

    SciTech Connect

    Marchuk, D.A.; Gallione, C.J.; Morrison, L.A.; Davis, L.E.; Clericuzio, C.L.

    1995-07-20

    Cavernous malformations (angiomas) affecting the central nervous system and retina can be inherited in autosomal dominant pattern (OMIM 116860). These vascular lesions may remain clinically silent or lead to a number of neurological symptoms including seizure, intracranial hemorrhage, focal neurological deficit, and migraine. We have mapped a gene for this disorder in two families, one of Italian-American origin and one of Mexican-American origin, to markers on proximal 7q, with a combined maximum lod score of 3.92 ({theta} of zero) with marker D7S479. Haplotype analysis of these families places the locus between markers D7S502 proximally and D7S515 distally, an interval of approximately 41 cM. The location distinguishes this disorder from an autosomal dominant vascular malformation syndrome where lesions are primarily cutaneous and that maps to 9p21. 16 refs., 3 figs., 1 tab.

  3. Partial urorectal septum malformation sequence in a kitten with disorder of sexual development.

    PubMed

    Reynolds, Brice S; Pain, Amélie; Meynaud-Collard, Patricia; Nowacka-Woszuk, Joanna; Szczerbal, Izabela; Switonski, Marek; Chastant-Maillard, Sylvie

    2014-12-01

    A 2-month-old kitten exhibited simultaneously an imperforate anus, hypospadias, rectourethral fistula and genital dysgenesis (penis restricted to the glans, absence of prepuce and bifid scrotum). Surgical correction consisted of separation of the urinary and digestive tracts, perineal urethrostomy and connection of the rectum to the newly made anal opening. Pathological examination of the testes, conventionally removed at 9 months of age, showed no mature spermatozoa and underdevelopment of germ and Leydig cells. In humans, the absence of an anal opening in association with abnormal sexual development defines the urorectal septum malformation sequence. Here, we describe the first case of this syndrome in a kitten with a normal male karyotype (38,XY) and a normal coding sequence for the SRY gene. Both the rectourethral fistula and observed genital abnormalities might have been induced by a disturbance in the hedgehog signalling pathway. However, although four polymorphic sites were identified by DHH gene sequencing, none cosegregated with the malformation. PMID:24718294

  4. Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2.

    PubMed

    Du, Juan; Zhu, Yan; Zhang, Yu-Lin; Li, Sha; Huang, Jing; Luo, Xiao-Hua; Liu, Lin

    2015-11-01

    Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominantly inherited vascular-malformation syndrome associated with gene mutations including ENG, ACVRL1 and SMAD4 gene. Clinically indistinguishable HHT1 and HHT2 are caused by mutations in ENG and ACVRL1 gene, respectively. Generally, pulmonary arteriovenous malformations (PAVMs) and pulmonary arterial hypertension (PAH) are rare manifestations of HHT related to ACVRL1 gene mutations. We described a female patient with HHT2 whose clinical features included epistaxis, mucocutaneous telangiectases, systemic AVMs and PAH. She also suffered from severe iron deficiency anemia and recurrent heart failure. A genetic mutation analysis disclosed a missense mutation in exon 7 of ACVRL1 gene in this patient and her daughter. A nonsense mutation in exon 7 of ACVRL1 gene was detected in her brother and her niece. This case supports that PAVMs and PAH can be rare manifestations of HHT2 patients. PMID:26245826

  5. [A malformation to know: os odontoideum. Report on two pediatric cases].

    PubMed

    Cherradi Lachhab, I; Dafiri, R

    2014-04-01

    The os odontoideum, or mobile odontoid apophysis, is a malformation of the cervico-occipital hinge caused by missing unity in the ossification center of the dens on the body of the axis. This malformation induces atloaxial instability and exposes the subject to the risk of bulbar-medullary compression. The true incidence of this condition is difficult to determine because many cases are asymptomatic. The pathogenesis is discussed. Congenital and traumatic theories have been advanced. Clinically, the defect can be discovered incidentally or revealed by neck pain, a stiff neck, dizziness, or deficient syndrome. CT and MRI imaging can detect the defects, and allow one to study the impact on the contents of the spinal canal and detect lesions. We report two new os odontoideum observations in children aged 5 and 14 years who were referred for equilibrium disorders and tetraparesis, respectively. PMID:24636591

  6. Mutation Prevalence of Cerebral Cavernous Malformation Genes in Spanish Patients

    PubMed Central

    Mondéjar, Rufino; Solano, Francisca; Rubio, Rocío; Delgado, Mercedes; Pérez-Sempere, Ángel; González-Meneses, Antonio; Vendrell, Teresa; Izquierdo, Guillermo; Martinez-Mir, Amalia; Lucas, Miguel

    2014-01-01

    Objective To study the molecular genetic and clinical features of cerebral cavernous malformations (CCM) in a cohort of Spanish patients. Methods We analyzed the CCM1, CCM2, and CCM3 genes by MLPA and direct sequencing of exons and intronic boundaries in 94 familial forms and 41 sporadic cases of CCM patients of Spanish extraction. When available, RNA studies were performed seeking for alternative or cryptic splicing. Results A total of 26 pathogenic mutations, 22 of which predict truncated proteins, were identified in 29 familial forms and in three sporadic cases. The repertoire includes six novel non-sense and frameshift mutations in CCM1 and CCM3. We also found four missense mutations, one of them located at the third NPXY motif of CCM1 and another one that leads to cryptic splicing of CCM1 exon 6. We found four genomic deletions with the loss of the whole CCM2 gene in one patient and a partial loss of CCM1and CCM2 genes in three other patients. Four families had mutations in CCM3. The results include a high frequency of intronic variants, although most of them localize out of consensus splicing sequences. The main symptoms associated to clinical debut consisted of cerebral haemorrhage, migraines and epileptic seizures. The rare co-occurrence of CCM with Noonan and Chiari syndromes and delayed menarche is reported. Conclusions Analysis of CCM genes by sequencing and MLPA has detected mutations in almost 35% of a Spanish cohort (36% of familial cases and 10% of sporadic patients). The results include 13 new mutations of CCM genes and the main clinical symptoms that deserves consideration in molecular diagnosis and genetic counselling of cerebral cavernous malformations. PMID:24466005

  7. Genetic animal models of malformations of cortical development and epilepsy.

    PubMed

    Wong, Michael; Roper, Steven N

    2016-02-15

    Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, heterotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis. PMID:25911067

  8. West syndrome in a patient with Schinzel-Giedion syndrome.

    PubMed

    Miyake, Fuyu; Kuroda, Yukiko; Naruto, Takuya; Ohashi, Ikuko; Takano, Kyoko; Kurosawa, Kenji

    2015-06-01

    Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed. PMID:25028416

  9. Genetics Home Reference: Megalencephaly-capillary malformation syndrome

    MedlinePLUS

    ... activities, including cell growth and division (proliferation), movement (migration) of cells, and cell survival. These functions make ... Medicine , National Institutes of Health Department of Health & Human Services , USA.gov Freedom of Information Act Copyright ...

  10. Genetics Home Reference: Microcephaly-capillary malformation syndrome

    MedlinePLUS

    ... them. This process helps to maintain the proper balance of protein production and breakdown (protein homeostasis) that cells need to function and survive. Studies suggest that STAM binding protein is also involved in multiple chemical signaling pathways within cells, including pathways needed for ...

  11. Treacher Collins Syndrome

    PubMed Central

    Chang, Christopher C.; Steinbacher, Derek M.

    2012-01-01

    Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome. PMID:23633935

  12. Neuropathology of cerebral arteriovenous malformations in children.

    PubMed Central

    Takashima, S; Becker, L E

    1980-01-01

    Neuropathological findings in children who had died of cerebral arteriovenous malformation under 6 years of age were contrasted with those of children aged 6 to 15 years. In all subjects, the abnormalities were more marked in the shunting vessels and veins distal to the arteriovenous shunt than in the arteries. Fibrous thickening, calcification an adherent thrombus of vessel wall, and gliosis and haemosiderin in contiguous neural tissue were more common in the older than the younger children. Children less than 1 week old with vein of Galen malformations presented with congestive heart failure and "watershed" cerebral infarction; most of those over one week old had hydrocephalus and venous thrombosis with haemorrhagic infarction. Images PMID:7420086

  13. Arteriovenous malformation of the uterine cervix.

    PubMed

    Val-Bernal, José-Fernando; Hermana, Sandra

    2016-03-01

    A uterine arteriovenous malformation (AVM) is an uncommon cause of uterine bleeding. Location of this lesion in the uterine cervix is exceptional. We report a case of a 34-year-old woman who presented with chronic menorrhagias and hypochromic anemia. A sonographic study revealed a 10-cm, fundal, intramural, uterine well-circumscribed mass that distorted the endometrial cavity. The patient underwent hysterectomy for a large uterine leiomyoma. The pathological study revealed an incidental AVM of the posterior half of the cervix measuring 5.5cm in major diameter. We suggest that in our case cervical AVM might have occurred due to a large corporal leiomyoma distorting the uterine circulation. Differential diagnosis includes capillary hemangioma, venous malformation, or arteriovenous fistula. PMID:26810780

  14. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected. PMID:26649296

  15. Statins and congenital malformations: cohort study

    PubMed Central

    Hernandez-Diaz, Sonia; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Franklin, Jessica M; Desai, Rishi J; Allen-Coleman, Cora; Mogun, Helen; Avorn, Jerry; Huybrechts, Krista F

    2015-01-01

    Objective To examine the teratogenic potential of statins. Design Cohort study. Setting United States. Participants A cohort of 886?996 completed pregnancies linked to liveborn infants of women enrolled in Medicaid from 2000 to 2007. Methods We examined the risk of major congenital malformations and organ specific malformations in offspring associated with maternal use of a statin in the first trimester. Propensity score based methods were used to control for potential confounders, including maternal demographic characteristics, obstetric and medical conditions, and use of other drugs. Results 1152 (0.13%) women used a statin during the first trimester. In unadjusted analyses, the prevalence of malformations in the offspring of these women was 6.34% compared with 3.55% in those of women who did not use a statin in the first trimester (relative risk 1.79, 95% confidence interval 1.43 to 2.23). Controlling for confounders, particularly pre-existing diabetes, accounted for this increase in risk (1.07, 0.85 to 1.37). There were also no statistically significant increases in any of the organ specific malformations assessed after accounting for confounders. Results were similar across a range of sensitivity analyses. Conclusions Our analysis did not find a significant teratogenic effect from maternal use of statins in the first trimester. However, these findings need to be replicated in other large studies, and the long term effects of in utero exposure to statins needs to be assessed, before use of statins in pregnancy can be considered safe. PMID:25784688

  16. Embolization and radiosurgery for arteriovenous malformations

    PubMed Central

    Plasencia, Andres R.; Santillan, Alejandro

    2012-01-01

    The treatment of arteriovenous malformations (AVMs) requires a multidisciplinary management including microsurgery, endovascular embolization, and stereotactic radiosurgery (SRS). This article reviews the recent advancements in the multimodality treatment of patients with AVMs using endovascular neurosurgery and SRS. We describe the natural history of AVMs and the role of endovascular and radiosurgical treatment as well as their interplay in the management of these complex vascular lesions. Also, we present some representative cases treated at our institution. PMID:22826821

  17. Ocular Malformations with Presumable Intraocular Calcification.

    PubMed

    Tengtrisorn, Supaporn; Vichitvejpaisal, Pornpattana; Nitirungjaras, Anupong; Kritsaneepaiboon, Supika; Kiddee, Weerawat; Singha, Penny

    2015-07-01

    This is a case of ocular malformations with presumable intraocular calcification based on computed tomography (CT) imaging, magnetic resonance imaging (MRI) and ocular ultrasound (US) findings. The authors presented the clinical, imaging and pathological findings of this case. Intraocular calcification is the most important finding in retinoblastoma, which requires aggressive management. It is important to distinguish it from other intraocular lesions, especially intraocular calcified hematoma. PMID:26267997

  18. Otolaryngologic manifestations of Maffucci's syndrome.

    PubMed

    Sun, Gordon H; Myer, Charles M

    2009-07-01

    Maffucci's syndrome is an uncommon congenital disease marked by multiple vascular malformations and enchondromas throughout the body. Otolaryngologic manifestations are relatively rare but potentially can cause symptoms such as respiratory distress and dysphagia if the lesions appear in the upper aerodigestive tract or larynx. We report a case of a young woman who demonstrated a wide range of head and neck pathology associated with this unique disease, including sphenoid enchondroma, bilateral petrous apex lesions, and rarely reported laryngeal and hypopharyngeal vascular malformations, over a period of nearly 20 years. PMID:19394093

  19. Giant Arteriovenous Malformation of the Neck

    PubMed Central

    Dieng, P. A.; Ba, P. S.; Gaye, M.; Diatta, S.; Diop, M. S.; Sene, E.; Ciss, A. G.; Ndiaye, A.; Ndiaye, M.

    2015-01-01

    Arteriovenous malformations (AVM) have a wide range of clinical presentations. Operative bleeding is one of the most hazardous complications in the surgical management of high-flow vascular malformations. In the cervical region, the presence of vital vascular structures, such as the carotid artery and jugular vein, may increase this risk. This is a case of massive arteriovenous malformation deforming the neck and the face aspect of this aged lady and growing for several years. A giant mass of the left neck occupied the carotid region and the subclavian region. The AVM was developed between the carotid arteries, jugular veins, and vertebral and subclavian vessels, with arterial and venous flux. The patient underwent surgery twice for the cure of that AVM. The first step was the ligation of the external carotid. Seven days later, the excision of the mass was done. In postoperative period the patient presented a peripheral facial paralysis which completely decreased within 10 days. The first ligation of the external carotid reduces significantly the blood flow into the AVM. It permitted secondarily the complete ablation of the AVM without major bleeding even though multiple ligations were done. PMID:26347847

  20. Simple risk predictions for arteriovenous malformation hemorrhage.

    PubMed

    Kondziolka, D; McLaughlin, M R; Kestle, J R

    1995-11-01

    We present a simple risk prediction formula for arteriovenous malformation hemorrhage. Natural history studies have shown an annual risk of hemorrhage of 2 to 4% for patients with brain arteriovenous malformations. Although decision analysis programs and biostatistical models are available to predict long-term risks of hemorrhage, we hypothesized that there was varying knowledge regarding the use of such programs within the general neurosurgical community. To obtain information on the current use of risk data, we performed a survey of neurosurgeons at national meetings in 1988 and 1994. Neurosurgeons were asked to define the risk for arteriovenous malformation hemorrhage in the young adult patient over a 20- to 30-year period, given a 3 or 4% annual risk of hemorrhage. A wide range of answers was obtained (1-100% risk), and many different methods of calculation were used. The use of the multiplicative law of probability formula requires only knowledge of patient age and annual hemorrhage risk. Risk of hemorrhage = 1 - (risk of no hemorrhage) expected years of remaining life. The assumptions pertaining to this multiplicative formula include a constant yearly risk of hemorrhage and the independent behavior of all years of observation. We calculated the predictions of risk of hemorrhage across all age groups, as modified by published survival data. We think the use of this formula is justified by published natural history data across different ages and populations and that it is a simple and reasonable alternative to other methods of calculation. PMID:8559331

  1. Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome

    SciTech Connect

    Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.; Delicado, A.; Palacios, J.

    1994-11-01

    The Pallister-Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by {open_quotes}coarse{close_quotes} face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a {open_quotes}coarse{close_quotes} face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister-Killian syndrome, especially if karyotyping is unavailable or if peripheral lumphocytes have a normal chromosome constitution. An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister-Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of {open_quotes}coarse{close_quotes} face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this phenotype, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. 31 refs., 10 figs., 1 tab.

  2. Floating-Harbor syndrome complicated by tethered cord: a new association and potential contribution from growth hormone therapy.

    PubMed

    Wiltshire, Esko; Wickremesekera, Agadha; Dixon, Joanne

    2005-07-01

    Floating-Harbor syndrome is a rare syndrome with short stature, severely delayed bone age, typical facies and delay in expressive speech. Structural malformations are uncommon, and tethered cord or other forms of spinal dysraphism have not previously been reported. We report on a case of Floating-Harbor syndrome, complicated by tethered cord and discuss the possibility that growth hormone therapy may contribute to the development of symptoms of this malformation. PMID:15889416

  3. An unusual presentation of Kabuki syndrome: clinical overlap with CHARGE syndrome.

    PubMed

    Verhagen, Judith M A; Oostdijk, Wilma; Terwisscha van Scheltinga, Cecilia E J; Schalij-Delfos, Nicoline E; van Bever, Yolande

    2014-09-01

    Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, skeletal anomalies, a variety of visceral malformations and abnormal dermatoglyphic patterns. We describe a case of Kabuki syndrome presenting with atypical features, consisting of bilateral microphthalmia, coloboma, anal atresia and panhypopituitarism, showing considerable phenotypic overlap with CHARGE syndrome. This report demonstrates that clinical follow-up and molecular genetic testing can be useful for establishing the correct diagnosis. PMID:24862881

  4. Systemic Supply to a Pulmonary Arteriovenous Malformation: Potential Explanation for Recurrence

    SciTech Connect

    Wispelaere, Jean-Francois De; Trigaux, Jean-Paul; Weynants, Patrick; Delos, Monique; Coene, Beatrice De

    1996-04-15

    A pregnant woman presented with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) and a single pulmonary arteriovenous malformation (AVM) that had been embolized 5 years previously. Partly due to pregnancy, recanalization of the aneurysm occurred with subsequent hemoptysis. Despite successful therapeutic reembolization of the afferent pulmonary artery, hemoptysis recurred 5 days later. At this time, recanalization of the pulmonary artery was not demonstrated by pulmonary angiography, but a systemic angiogram revealed a bronchial arterial supply to the pulmonary AVM. A systemic supply should always be sought in cases of recurrent hemoptysis after technically successful embolization of the feeding pulmonary artery.

  5. A Congenital High Flow Arteriovenous Malformation of the Bladder Presenting With Polypoid Cystitis and Ureteral Obstruction.

    PubMed

    Addo, Eric A; Emtage, Justin; Massis, Kamal; Hernandez, David J

    2015-11-01

    A 21-year-old male with a history of Down's syndrome presented with hematuria and right flank pain. Computed Tomography (CT) of the abdomen/pelvis revealed right hydronephrosis and a right-sided pelvic vascular abnormality. Angiography revealed an arteriovenous malformation (AVM) fed by the right superior and inferior vesical arteries and nephrostogram showed a long segment of obstructed distal right ureter. Cystoscopy revealed erythema and edema of the right hemi-bladder and biopsy diagnosed polypoid cystitis. Treatment was performed by transarterial embolization with ethylene vinyl alcohol copolymer. Follow up cystoscopy and retrograde pyelography at 3 months post-procedure showed resolution of all visible pathology. PMID:26793545

  6. A Congenital High Flow Arteriovenous Malformation of the Bladder Presenting With Polypoid Cystitis and Ureteral Obstruction

    PubMed Central

    Addo, Eric A.; Emtage, Justin; Massis, Kamal; Hernandez, David J.

    2015-01-01

    A 21-year-old male with a history of Down's syndrome presented with hematuria and right flank pain. Computed Tomography (CT) of the abdomen/pelvis revealed right hydronephrosis and a right-sided pelvic vascular abnormality. Angiography revealed an arteriovenous malformation (AVM) fed by the right superior and inferior vesical arteries and nephrostogram showed a long segment of obstructed distal right ureter. Cystoscopy revealed erythema and edema of the right hemi-bladder and biopsy diagnosed polypoid cystitis. Treatment was performed by transarterial embolization with ethylene vinyl alcohol copolymer. Follow up cystoscopy and retrograde pyelography at 3 months post-procedure showed resolution of all visible pathology. PMID:26793545

  7. [Maternal age as a risk factor for congenital malformations].

    PubMed

    Nazer, J; Cifuentes, L; Ruiz, G; Pizarro, M T

    1994-03-01

    We studied 131,899 consecutive births at the Maternity of the University of Chile Clinical Hospital, finding 4887 newborns with congenital malformations (representing a rate of 37.05 per 1000 alive newborns). Between January 1982 and December 1992 there were 41,344 births and 295 stillbirths (0.7%). Among the latter, 41 were malformed (13.9%). A graphic comparing the mean annual rates of malformations and maternal ages, shows a sustained increase in malformations form 1972 to 1988, that decreases thereafter and stabilizes since 1982. There is a marked parallelism between the curves of malformation rates and maternal age (t21 = 1.057, p < 0.1). It is concluded that the risk of congenital malformations increases along with maternal ages. PMID:7809519

  8. Extracranial vascular malformations (hemangiomas and vascular malformations) in children and adolescents – diagnosis, clinic, and therapy

    PubMed Central

    Eivazi, Behfar; Werner, Jochen A.

    2014-01-01

    The field of extracranial vascular anomalies is considered as special focus of pediatric otolaryngology and it has shown a rapid development during the last years. The reason for this interest is finally also due to the global acceptance of the classification introduced by the ISSVA (International Society for the Study of Vascular Anomalies). Hemangiomas are the most frequently observed vascular tumors. Today the systemic propranolol therapy is mostly used for therapy of hemangiomas requiring treatment. Increasingly, the topical application of beta blocker is discussed while the benefit in the head and neck seems to be limited. Vascular malformations are classified according to the morphology of the affected part of the vascular system in arterial, venous, arterio-venous, lymphatic, capillary, and combined vascular malformations. Conventional surgery, sclerosing therapy, and laser treatment are invasive options for the treatment of lymphatic malformations. The options for the treatment of venous malformations could be significantly improved during the last years. In this context, the use of Nd:YAG laser, the conservative treatment of the localized disseminated intravascular coagulation with low-molecular weight heparin, the re-discovery of bleomycin as effective sclerosing agent, and the improvement of alcohol-based embolization agents must be mentioned. Today the treatment with dye laser is the preferred therapy for capillary malformations and it is superior to other therapeutic options as for example photodynamic therapy. Arterio-venous malformations as representatives for high-flow lesions are the high-risk lesions. Frequently they are compared to malignant head and neck tumors, in particular when a curative treatment can no longer be assured because of diffuse or multifocal extent and when the disease shows a progressive course. The combined treatment of embolization and surgical resection and if necessary consecutive defect reconstruction have turned out to be appropriate for arterio-venous malformations. Incurable findings are still a major challenge. Despite the introduction of antiangiogenetic drugs in oncology, the medicamentous therapeutic approach could not be established for arterio-venous malformations up to now. PMID:25587362

  9. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.

    PubMed

    Marcadier, Julien L; Mears, Alan J; Woods, Elizabeth A; Fisher, Jamie; Airheart, Cory; Qin, Wen; Beaulieu, Chandree L; Dyment, David A; Innes, A Micheil; Curry, Cynthia J

    2016-01-01

    PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by pulmonary hypoplasia/aplasia, diaphragmatic defects, bilateral anophthalmia, and cardiac malformations. The disorder is caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California. These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and/or pulmonary agenesis/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and renal hypoplasia; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning. The phenotypic spectrum of PDAC syndrome has until now not included contractures or camptodactyly. Sequencing of STRA6 in unrelated members of families three and four identified a novel, shared homozygous splice site alteration (c.113?+?3_4delAA) that is predicted to be pathogenic. We hypothesize this may represent a unique disease allele in the Hmong. We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred STRA6 mutations, illustrating the phenotypic and molecular variability that characterizes this disorder. © 2015 Wiley Periodicals, Inc. PMID:26373900

  10. Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment)

    PubMed Central

    2009-01-01

    Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptoms is established with neuroimaging techniques. The most effective therapy for patients with Chiari type I malformation/syringomyelia is surgical decompression of the foramen magnum, however there are non-surgical therapy to relieve neurophatic pain: either pharmacological and non-pharmacological. Pharmacological therapy use drugs that act on different components of pain. Non-pharmacological therapies are primarly based on spinal or peripheral electrical stimulation. It is important to determine the needs of the patients in terms of health-care, social, educational, occupational, and relationship issues, in addition to those derived from information aspects, particularly at onset of symptoms. Currently, there is no consensus among the specialists regarding the etiology of the disease or how to approach, monitor, follow-up, and treat the condition. It is necessary that the physicians involved in the care of people with this condition comprehensively approach the management and follow-up of the patients, and that they organize interdisciplinary teams including all the professionals that can help to increase the quality of life of patients. PMID:20018097

  11. Hemangiomas and Vascular Malformations: Current Theory and Management

    PubMed Central

    Richter, Gresham T.; Friedman, Adva B.

    2012-01-01

    Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies. PMID:22611412

  12. Occlusive vascular disease associated with cerebral arteriovenous malformations

    SciTech Connect

    Mawad, M.E.; Hilal, S.K.; Michelsen, W.J.; Stein, B.; Ganti, S.R.

    1984-11-01

    Selective carotid angiography and computed tomography were used in a study of the association of occlusive vascular disease with cerebral arteriovenous malformations in 13 patients. The majority of the arterial occlusions were proximal to the vascular malformation. Some, however, extended distal to the major branch supplying the arteriovenous malformation (AVM). Selective angiography with subtraction techniques defines the distinct angioarchitecture of these AVMs and the associated stenoses and collateral telangiectases.

  13. Parkes weber syndrome involving right lower limb: a case report.

    PubMed

    Kondapavuluri, Benod Kumar; Bharadwaj, R N; Shaikh, Shama; Chand, Akshay; Chaturvedi, Vidyasagar

    2015-04-01

    Vascular malformations (VMs) are developmental abnormalities of the vascular system. Malformations may involve any segment of the vascular tree: arteries, capillaries, veins or lymphatics. High-flow arteriovenous malformations (AVMs) are associated with shunting of large amounts of arterial blood into the venous system; these lesions can have dynamic and dramatic hemodynamic manifestations, such as massive arteriolisation with gross venous engorgement, organomegaly of concerned anatomical region and high-output cardiac failure. Patients with Parkes Weber syndrome have clinically significant micro- or macrofistulous arteriovenous shunts, affecting usually one extremity. The patient has dilated, frequently visible pulsatile varicose veins and other visible signs of AV shunting. The abnormality is sporadic; it is likely a somatic mutation. There is frequent intraosseous involvement. The presence of high AV shunts differentiates Parkes Weber syndrome from Klippel-Trenaunay syndrome which is a clinical triad of capillary malformation, soft tissue and bone hypertrophy and venous and lymphatic malformations. The mutations in RASA 1 gene leads to Parkes Weber syndrome characterised by the presence of multiple, small (1-2 cm in diameter) capillary malformations mostly localized on the face and limbs. We report a case of congenital AVM of the lower limb causing cardiac decompensation. The patient was safely and successfully treated by performing a knee disarticulation. PMID:25972672

  14. Occipital neuromodulation for refractory headache in the Chiari malformation population.

    PubMed

    Vadivelu, Sudhakar; Bolognese, Paolo; Milhorat, Thomas H; Mogilner, Alon Y

    2011-01-01

    Chronic occipital and suboccipital headache is a common symptom in patients with Chiari I malformation (CMI). These headaches may persist despite appropriate surgical treatment of the underlying pathology via suboccipital decompression, duraplasty and related procedures. Occipital stimulation has been shown to be effective in the treatment of a variety of occipital headache/pain syndromes. We present our series of 18 patients with CMI and persistent occipital headaches who underwent occipital neurostimulator trials and, following successful trials, permanent stimulator placement. Seventy-two percent (13/18) of patients had a successful stimulator trial and proceeded to permanent implant. Of those implanted, 11/13 (85%) reported continued pain relief at a mean follow-up of 23 months. Device-related complications requiring additional surgeries occurred in 31% of patients. Occipital neuromodulation may provide significant long-term pain relief in selected CMI patients with persistent occipital pain. Larger and longer-term studies are needed to further define appropriate patient selection criteria as well as to refine the surgical technique to minimize device-related complications. PMID:21422782

  15. Genetic Considerations Relevant to Intracranial Hemorrhage and Brain Arteriovenous Malformations

    PubMed Central

    Kim, Helen; Marchuk, Douglas A.; Pawlikowska, Ludmila; Chen, Yongmei; Su, Hua; Yang, GY; Young, William L.

    2008-01-01

    SUMMARY Brain arteriovenous malformations (AVM) cause intracranial hemorrhage (ICH), especially in young adults. Molecular characterization of lesional tissue provides evidence for involvement of both angiogenic and inflammatory pathways, but the pathogenesis remain obscure and medical therapy is lacking. Abnormal expression patterns have been observed for proteins related to angiogenesis (e.g., VEGF, Angiopoietin-2, MMP-9), and inflammation (e.g., IL-6 and MPO). Macrophage and neutrophil invasion has also been observed in the absence of prior ICH. Candidate gene association studies have identified a number of germline variants associated with clinical ICH course and AVM susceptibility. A single nucleotide polymorphism (SNP) in ALK-1 is associated with AVM susceptibility, and SNPs in IL-6, TNF-? and APOE are associated with AVM rupture. These observations suggest that even without a complete understanding of the determinants of AVM development, the recent discoveries of downstream derangements in vascular function and integrity may offer potential targets for therapy development. Further, biomarkers can now be established for assessing ICH risk. Finally, these data will generate hypotheses that can be tested mechanistically in model systems, including surrogate phenotypes, such as vascular dysplasia and/or models recapitulating the clinical syndrome of recurrent spontaneous ICH. PMID:19066109

  16. Congenital malformations and genetic diseases in comic books.

    PubMed

    Mégarbané, A; Adib, S M

    2003-01-01

    Medical syndromes have often been represented in fine arts, but rarely have clinical diagnoses been discussed in comic book characters. Since their first appearance in Europe in the middle of the 19th century and in America in 1895, comic books have been considered as "the 9th art". In many comic books, the appearance and/or the behavior of central or support characters are suggestive of already well-defined medical disorders. The representation of five particular groups or clinical features: mental retardation, abnormal stature, abnormal hair, obesity, and cranial malformations is discussed from mostly European comic series. Whether comic authors intended to describe specific clinical entities while drawing their characters or whether such situations appeared by mere luck, is open to debate. In many series from the first half of the 20th century characters with remarkable clinical features were also painted as psycho-social deviants. Such stereotypes are found much less frequently nowadays. Writers of comic books, realizing the major impact of their work especially in adolescent age groups, have increasingly been using their series to actually promote issues of equity and well being for physically or mentally impaired people. PMID:12725585

  17. Abnormal facial appearance, body asymmetry, limb deformities, and internal malformations.

    PubMed

    Oudesluijs, Grétel; Simon, Marleen E H; Burggraaf, Rianne H J; Waterham, Hans R; Hennekam, Raoul C M

    2012-02-01

    We describe a newborn girl with multiple congenital anomalies and abnormal phenotype comprising underdeveloped corpus callosum with ventriculomegaly, chorioretinal atrophy, pulmonary arterial hypertension, annular pancreas, horseshoe kidney, asymmetric limb and chest anomalies, spinal segmentation defects, hypertrichosis, and unusual face with large anterior fontanel, high anterior hairline, broad forehead, mildly underdeveloped midface, hypertelorism, depressed nasal bridge, short and upturned nose, large mouth, retrognathia, and large and malformed ears. Work-up included cytogenetic studies of lymphocytes and skin fibroblasts, subtelomere Multiplex Ligation-dependent Probe Amplification (MLPA), whole-genome oligo-array, and molecular analysis of SETBP1 and NSDHL: no abnormalities were found. Mucopolysaccharide urinary excretion was elevated. Results of metabolic studies for sterol and peroxisomal abnormalities in fibroblasts were normal. Additional electronic microscopy studies in skin fibroblasts did not show evidence for storage in fibroblasts or lysosomal changes. Nosologic considerations allowed exclusion of Schinzel-Giedion and Urioste syndrome. This condition seems not to have been described before; a segregating Mendelian mutation is assumed. PMID:22140078

  18. Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

    PubMed Central

    Poduri, Annapurna; Evrony, Gilad D.; Cai, Xuyu; Elhosary, Princess Christina; Beroukhim, Rameen; Lehtinen, Maria K.; Hills, L. Benjamin; Heinzen, Erin L.; Hill, Anthony; Hill, R. Sean; Barry, Brenda J.; Bourgeois, Blaise F.D.; Riviello, James J.; Barkovich, A. James; Black, Peter M.; Ligon, Keith L.; Walsh, Christopher A.

    2012-01-01

    Summary Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that 2/8 HMG samples showed trisomy of chromosome 1q, encompassing many genes, including AKT3, which is known to regulate brain size. A third case showed a known activating mutation in AKT3 (c.49G?A, creating p.E17K) that was not present in the patient’s blood cells. Remarkably, the E17K mutation in AKT3 is exactly paralogous to E17K mutations in AKT1 and AKT2 recently discovered in somatic overgrowth syndromes. We show that AKT3 is the most abundant AKT paralogue in brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells. Our data suggest that somatic mutations limited to brain could represent an important cause of complex neurogenetic disease. PMID:22500628

  19. Upper limb malformations in chromosome 22q11 deletions

    SciTech Connect

    Shalev, S.A.; Dar, H.; Barel, H.; Borochowitz, Z.

    1996-03-29

    We read with interest the report of Cormier-Daire et al. in a recent issue of the journal, describing upper limb malformations in DiGeorge syndrome. We observed a family with this group of rare clinical expression of chromosome 22q11 deletions. The proposita was examined in our clinic when she was 4 years old. She was mildly mentally retarded. Clinical evaluation showed normal growth, long thin nose with squared tip, nasal speech, and abundant scalp hair and no cardiac anomalies. The girl was accompanied by her mother. Facial similarities were noted between the two. The mother reported to be treated with oral calcium due to hypoparathyroidism, diagnosed several years ago. Clinical evaluation showed wide flat face, short stature, mild mental retardation, slight hypertelorism, peculiar nose similar to her daughter`s, and nasal speech. No cardiac anomalies were found. Recently, a brother was born. Clinical examination documented large ventriculo-septal defect, retrognathia, narrow palpebral fissures, and long thin nose with squared tip. 1 ref.

  20. Somatic activation of AKT3 causes hemispheric developmental brain malformations.

    PubMed

    Poduri, Annapurna; Evrony, Gilad D; Cai, Xuyu; Elhosary, Princess Christina; Beroukhim, Rameen; Lehtinen, Maria K; Hills, L Benjamin; Heinzen, Erin L; Hill, Anthony; Hill, R Sean; Barry, Brenda J; Bourgeois, Blaise F D; Riviello, James J; Barkovich, A James; Black, Peter M; Ligon, Keith L; Walsh, Christopher A

    2012-04-12

    Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that two out of eight HMG samples showed trisomy of chromosome 1q, which encompasses many genes, including AKT3, a gene known to regulate brain size. A third case showed a known activating mutation in AKT3 (c.49G?A, creating p.E17K) that was not present in the patient's blood cells. Remarkably, the E17K mutation in AKT3 is exactly paralogous to E17K mutations in AKT1 and AKT2 recently discovered in somatic overgrowth syndromes. We show that AKT3 is the most abundant AKT paralog in the brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells. Our data suggest that somatic mutations limited to the brain could represent an important cause of complex neurogenetic disease. PMID:22500628

  1. Retained Microcatheter after Onyx Embolization of Intracranial Arteriovenous Malformation

    PubMed Central

    Lee, Jae Il; Ko, Jun Kyeung; Lee, Tae Hong

    2012-01-01

    Endovascular embolization is being increasingly used to treat intracranial arteriovenous malformations (AVMs). However, we experienced two patients with retained microcatheters after AVM embolization using Onyx. PMID:22949969

  2. Acral angiokeratomas in a patient with Turner syndrome.

    PubMed

    Berk, David R; Lind, Anne C; Bayliss, Susan J

    2010-01-01

    Several types of vascular anomalies have been described in patients with Turner syndrome, including cutaneous lymphatic malformations, vascular anomalies of the heart and aorta, acral venous malformations, and intestinal vascular anomalies. Angiokeratomas have rarely been reported in patients with Turner syndrome. Here, we describe a 14-year-old girl with Turner syndrome who presented with a 2-year history of tender bluish-black keratotic acral papules. Biopsy showed acral skin with focal epidermal acanthosis that was centered on a dilated superficial vessel, consistent with an angiokeratoma. Lysosomal enzyme assays were normal, and she did not demonstrate any other features of a lysosomal storage disorder. PMID:21510021

  3. Fetal hydantoin syndrome with rheumatic valvular heart disease.

    PubMed

    Godbole, K G; Gambhir, P S; Deshpande, A S; Kurlekar, S U; Phadke, M A

    1999-01-01

    Research has shown that anticonvulsants are teratogens and pose a risk for fetal malformations. Though Fetal Hydantoin Syndrome (FHS) was first reported by Langhman and others, wide phenotypic variability of this syndrome has lead many clinicians to question its very existence. We report a twelve year old girl with FHS with rheumatic valvular heart disease. PMID:10798072

  4. Prevalence at birth of congenital malformations in communities near the Hanford site

    SciTech Connect

    Sever, L.E.; Hessol, N.A.; Gilbert, E.S.; McIntyre, J.M.

    1988-02-01

    The authors examined the prevalence of congenital malformations among births in Benton and Franklin counties, in southeastern Washington State, from 1968 through 1980. The Hanford Site is in this area and serves as a major employer. In addition, various agriculturally and chemically related activities are in the area. Hospital and vital records were used to identify 454 malformation cases among 23,319 births; this yielded a malformation rate of 19.6 per 1000 births, a rate similar to those reported in other studies. The rates of specific malformations ascertained during the first year of life were compared with combined rates from the states of Washington, Oregon, and Idaho from the Birth Defects Monitoring Program. Among defects that would be expected to be comparably ascertained, a statistically significant elevated rate of neural tube defects was observed (1.72 per 1000 births vs. 0.99 per 1000). Rates of cleft lip were significantly lower in Benton and Franklin counties than in the Birth Defects Monitoring Program (0.59 per 1,000 vs. 1.17 per 1000). For congenital heart defects, pyloric stenosis, and Down syndrome, which are often not diagnosed in the newborn period, Birth Defects Monitoring Program data did not offer appropriate comparisons. The rates of these defects did not appear to be elevated in relation to rates found in other relevant populations. When rates of neural tube defects were compared with those in populations other than the Birth Defects Monitoring Program, the Benton and Franklin county rates were still considered to be elevated. The increased bicounty rate cannot be explained by employment of the parents at Hanford or by the impact of plant emissions on the local population.

  5. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  6. Malformations of the tooth root in humans.

    PubMed

    Luder, Hans U

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation. PMID:26578979

  7. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation. PMID:26578979

  8. BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN

    PubMed Central

    Leblanc, Gabrielle G.; Golanov, Eugene; Awad, Issam A.; Young, William L.

    2009-01-01

    Background and Purpose This review discusses recent research on the genetic, molecular, cellular, and developmental mechanisms underlying the etiology of vascular malformations of the brain (VMBs), including cerebral cavernous malformation (CCM), sporadic brain arteriovenous malformation (AVM), and the AVMs of hereditary hemorrhagic telangiectasia (HHT). Summary of Review The identification of gene mutations and genetic risk factors associated with CCM, HHT, and sporadic AVM has enabled the development of animal models for these diseases and provided new insights into their etiology. All of the genes associated with VMBs to date have known or plausible roles in angiogenesis and vascular remodeling. Recent work suggests that the angiogenic process most severely disrupted by VMB gene mutation is that of vascular stabilization, the process whereby vascular endothelial cells form capillary tubes, strengthen their intercellular junctions, and recruit smooth muscle cells to the vessel wall. In addition, there is now good evidence that in some cases CCM lesion formation involves a genetic two-hit mechanism, in which a germline mutation in one copy of a CCM gene is followed by a somatic mutation in the other copy. There is also increasing evidence that environmental second hits can produce lesions when there is a mutation to a single allele of a VMB gene. Conclusions Recent findings begin to explain how mutations in VMB genes render vessels vulnerable to rupture when challenged with other inauspicious genetic or environmental factors, and have suggested candidate therapeutics. Understanding of the cellular mechanisms of VMB formation and progression in humans has lagged behind that in animal models. New knowledge of lesion biology will spur new translational work. Several well-established clinical and genetic database efforts are already in place, and further progress will be facilitated by collaborative expansion and standardization of these. PMID:19834013

  9. Anesthetic Implications of an Obstetric Patient with Blue Rubber Bleb Nevus Syndrome.

    PubMed

    Galey, Jessica; Bharadwaj, Shobana; Crimmins, Sarah; Hong, Caron M; Malinow, Andrew M

    2016-03-15

    Blue rubber bleb nevus syndrome, a syndrome of multifocal venous malformations, has been reported rarely during pregnancy. This syndrome has been associated with airway lesions in some patients and neuraxial abnormalities in other patients. We report the anesthetic and obstetric management of a patient with an extensive distribution of both airway and neuraxial lesions. PMID:26579613

  10. The value of England and Wales congenital malformation notification scheme data for epidemiology: male genital tract malformations.

    PubMed Central

    Swerdlow, A J; Melzer, D

    1988-01-01

    Data from the England and Wales national congenital malformation notification scheme were examined for associations of male genital tract malformations. For some of the malformations comparison of notification rates with the literature suggested gross undernotification. There was also evidence suggesting bias: examination of the relationships of the malformations to birth weight, maternal parity, and maternal age at delivery showed some highly significant trends in risk, most of which were at variance with findings in the literature, and several potential mechanisms for bias could be adduced. Direct investigation is needed, for this and other similar data sets, of the extent and mechanisms of biased undernotification. PMID:2901455

  11. Intrapulmonary arteriovenous malformation causing recurrent strokes

    PubMed Central

    Abed, Kareem; Premachandra, Lalith; Vankawala, Viren; Sun, Qi

    2015-01-01

    This case reveals a left pulmonary arteriovenous malformation (PAVM) as a cause of recurrent cerebral and cerebellar emboli. Extensive workup excluded other etiologies of emboli formation, and the patient was transferred to a tertiary care center for percutaneous embolotherapy. In the absence of a clear etiology, PAVM should be considered as a potential cause of recurrent cerebral emboli, especially in the absence of carotid disease, intracardiac thrombus, atrial septal defect, and patent foramen ovale. Diagnostic work-up for the PAVM can be cost effective and expedited by utilization of agitated saline contrast echocardiography, as noted in our case. PMID:26486114

  12. Role of Embolization for Cerebral Arteriovenous Malformations

    PubMed Central

    Ellis, Jason A.; Lavine, Sean D.

    2014-01-01

    Cerebral arteriovenous malformations (AVMs) are complex high-flow lesions that can result in devastating neurological injury when they hemorrhage. Embolization is a critical component in the management of many patients with cerebral AVMs. Embolization may be used as an independent curative therapy or more commonly in an adjuvant fashion prior to either micro- or radiosurgery. Although the treatment-related morbidity and mortality for AVMs—including that due to microsurgery, embolization, and radiosurgery—can be substantial, its natural history offers little solace. Fortunately, care by a multidisciplinary team experienced in the comprehensive management of AVMs can offer excellent results in most cases. PMID:25624978

  13. Smaller platelet volumes associated with vascular malformations.

    PubMed

    Klapman, Marvin H; Sosa, Valentina B; Mattson-Gates, Gail F; Baker, Cynthia N; Sydorak, Roman M; Ong, Victor L; Li, Bonnie H; Yao, Janis F

    2013-06-01

    Various parameters in 91 adult participants with vascular malformations and 91 controls were studied. The mean of the participants' platelet volumes was 8.5 fL and that of their controls was 9.1 (P < .001). The mean of the participants' platelet mass was 2145 µL/L of blood and that of their controls was 2351 (P = .006). The other parameters studied were not significantly different than the controls. It is suggested that the lower platelet volume might be related to a compensatory mechanism to keep the total body platelet mass stable despite the increased vasculature. PMID:22297559

  14. Prevalence of Chiari I Malformation and Syringomyelia.

    PubMed

    Kahn, Elyne N; Muraszko, Karin M; Maher, Cormac O

    2015-10-01

    Chiari I malformation (CM) is a common neurosurgical diagnosis and spinal cord syrinx is frequently found in patients with CM. Asymptomatic CM is a common imaging finding. Symptomatic CM is less common. Variation in prevalence estimates may be attributed to differences in sensitivity of CM detection between studies as well as differences in the populations being analyzed. The prevalence of low tonsil position and CM on MRI is higher in children and young adults compared with older adults. Studies that include a large number of older adults find a lower prevalence compared with analyses of children. PMID:26408058

  15. Spinal arteriovenous malformation masquerating zoster sine herpete.

    PubMed

    Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan; Yang, Jong Yeun

    2013-01-01

    Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality. PMID:23342212

  16. Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete

    PubMed Central

    Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan

    2013-01-01

    Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality. PMID:23342212

  17. Pretreatment imaging of peripheral vascular malformations

    PubMed Central

    Johnson, Joshua B; Cogswell, Petrice M; McKusick, Michael A; Binkovitz, Larry A; Riederer, Stephen J; Young, Phillip M

    2015-01-01

    Peripheral vascular malformations (VMs) are complex and diverse vascular lesions which require individualized pretreatment planning. Pretreatment imaging using various modalities, especially magnetic resonance imaging and time-resolved magnetic resonance angiography, is a valuable tool for classifying peripheral VMs to allow proper diagnosis, demonstrate complete extent, identify the nidus, and distinguish between low-flow and high-flow dynamics that determines the treatment approach. We discuss pretreatment imaging findings in four patients with peripheral VMs and how diagnostic imaging helped guide management. PMID:25625123

  18. Pediatric aneurysms and vein of Galen malformations

    PubMed Central

    Rao, V. R. K.; Mathuriya, S. N.

    2011-01-01

    Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist. PMID:22069420

  19. Genetic and Developmental Basis of Cardiovascular Malformations.

    PubMed

    Azhar, Mohamad; Ware, Stephanie M

    2016-03-01

    Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs is a prerequisite for prevention. Cardiac development is a complex, multistep process of morphogenesis that is under genetic regulation. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are still identified infrequently. This article discusses the key genetic concepts characterizing human CVMs, their developmental basis, and the critical developmental and genetic concepts underlying their pathogenesis. PMID:26876120

  20. Unilateral, Linear Blue Rubber Bleb Nevus Syndrome (Bean's syndrome): An Unfamiliar Presentation: First Case from India

    PubMed Central

    Sancheti, Karan; Podder, Indrashis; Das, Anupam; Choudhury, Sourav; Chandra, Somodyuti; Gharami, Ramesh Chandra

    2015-01-01

    Blue rubber bleb nevus syndrome (BRBNS) also called Bean's syndrome is a rare disorder characterized by multiple cutaneous venous malformations in association with visceral lesions, most commonly affecting the gastrointestinal tract. We report here, a 21-year-old woman patient, who presented with unilateral, blaschkoid distribution of cutaneous venous malformations along with blue rubber bleb nevus and recurrent episodes of hematochezia due to vascular lesions in the sigmoid colon; likely to be a case of BRBNS. The unusual unilateral, blaschkoid distribution of BRBNS prompted this present report. PMID:26677281

  1. Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others.

    PubMed

    Chen, Chih-Ping

    2007-06-01

    Omphalocele can be associated with single gene disorders, neural tube defects, diaphragmatic defects, fetal valproate syndrome, and syndromes of unknown etiology. This article provides a comprehensive review of omphalocele-related disorders: otopalatodigital syndrome type II; Melnick-Needles syndrome; Rieger syndrome; neural tube defects; Meckel syndrome; Shprintzen-Goldberg omphalocele syndrome; lethal omphalocele-cleft palate syndrome; cerebro-costo-mandibular syndrome; fetal valproate syndrome; Marshall-Smith syndrome; fibrochondrogenesis; hydrolethalus syndrome; Fryns syndrome; omphalocele, diaphragmatic defects, radial anomalies and various internal malformations; diaphragmatic defects, limb deficiencies and ossification defects of skull; Donnai-Barrow syndrome; CHARGE syndrome; Goltz syndrome; Carpenter syndrome; Toriello-Carey syndrome; familial omphalocele; Cornelia de Lange syndrome; C syndrome; Elejalde syndrome; Malpuech syndrome; cervical ribs, Sprengel anomaly, anal atresia and urethral obstruction; hydrocephalus with associated malformations; Kennerknecht syndrome; lymphedema, atrial septal defect and facial changes; and craniosynostosismental retardation syndrome of Lin and Gettig. Perinatal identification of omphalocele should alert one to the possibility of omphalocele-related disorders and familial inheritance and prompt a thorough genetic counseling for these disorders. PMID:17638618

  2. Management of posterior fossa arteriovenous malformations

    PubMed Central

    Almeida, Joao Paulo; Medina, Roberto; Tamargo, Rafael J.

    2015-01-01

    Background: Posterior fossa arteriovenous malformations (AVMs) are rare vascular lesions, representing 7–15% of all intracranial AVMs. Although less frequent than supratentorial AVMs, they present higher rupture, morbidity, and mortality rates. Microsurgery, radiosurgery, and endovascular neurosurgery are treatment options for obliteration of those lesions. In this paper, we present a critical review of the literature about the management of posterior fossa AVM. Methods: A MEDLINE-based search of articles published between January 1960 and January 2014 was performed. The search terms: “Posterior fossa arteriovenous malformation,” “microsurgery,” “radiosurgery,” and “endovascular” were used to identify the articles. Results: Current data supports the role of microsurgery as the gold standard treatment for cerebellar AVMs. Brainstem AVMs are usually managed with radiotherapy and endovascular therapy; microsurgery is considered in cases of pial brainstem AVMs. Conclusions: Succsseful treatment of posterior fossa AVMs depend on an integrated work of neurosurgeons, radiosurgeons, and endovascular neurosurgery. Although the development of radiosurgery and endovascular techniques is remarkable, microsurgery remains as the gold standard treatment for most of those lesions. PMID:25745586

  3. Unusual Presentation of Cerebral Cavernous Malformation

    PubMed Central

    Kim, Won-Hyung; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-01-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  4. Variations of some elements in cadmium-induced malformed fish

    SciTech Connect

    Muramoto, S.

    1981-08-01

    Reports of malformation induced by cadmium such as the appearance of vertebral anomalies in carp have been described by the present author. In this paper, the appearance of such malformed fish by exposure to cadmium was confirmed in a repeat experiment. Decalcification of the fish was studied from spinal x-ray photographs and the results of some elements analysis.

  5. Successful percutaneous coil occlusion of a large pulmonary arteriovenous malformation.

    PubMed

    Jameel, Al-Ata; Arfi, Amin Muhammed; Ayman, M S; Nasser, Mahdi; Amjad, Kouatli; Iskandar, Al-Githmi

    2004-11-01

    Pulmonary arteriovenous malformation is one of the rarest congenital anomalies of cardiovascular system. We present a case of 30-year-old female with a large pulmonary arteriovenous malformation (PAVM) arising from the right lower pulmonary artery and draining to the left atrium. She underwent successful embolization using three detachable Cook coils. PMID:15530285

  6. Phenotypic subregions within the split-hand/foot malformation 1 locus.

    PubMed

    Rasmussen, Malene B; Kreiborg, Sven; Jensen, Per; Bak, Mads; Mang, Yuan; Lodahl, Marianne; Budtz-Jørgensen, Esben; Tommerup, Niels; Tranebjærg, Lisbeth; Rendtorff, Nanna D

    2016-03-01

    Split-hand/foot malformation 1 (SHFM1) is caused by chromosomal aberrations involving the region 7q21.3, DLX5 mutation, and dysregulation of DLX5/DLX6 expression by long-range position effects. SHFM1 can be isolated or syndromic with incomplete penetrance and a highly variable clinical expression, possibly influenced by sex and imprinting. We report on a new family with five affected individuals with syndromic SHFM1 that includes split-hand/foot malformations, hearing loss, and craniofacial anomalies, and an inv(7)(q21.3q35) present both in the proband and her affected son. The proximal inversion breakpoint, identified by next generation mate-pair sequencing, truncates the SHFM1 locus within the regulatory region of DLX5/6 expression. Through genotype-phenotype correlations of 100 patients with molecularly characterized chromosomal aberrations from 32 SHFM1 families, our findings suggest three phenotypic subregions within the SHFM1 locus associated with (1) isolated SHFM, (2) SHFM and hearing loss, and (3) SHFM, hearing loss, and craniofacial anomalies, respectively (ranked for increasing proximity to DLX5/6), and encompassing previously reported tissue-specific enhancers for DLX5/6. This uniquely well-characterized cohort of SHFM1 patients allowed us to systematically analyze the recently suggested hypothesis of skewed transmission and to confirm a higher penetrance in males vs. females in a subgroup of patients with isolated SHFM. PMID:26839112

  7. Catel-Manzke palatodigital syndrome in a second trimester female foetus with nuchal oedema, costovertebral anomalies and radial ray defect.

    PubMed

    Petit, P; Moerman, P; Legius, E; Fryns, J P

    1994-01-01

    We present a female fetus with combination of Pierre Robin anomaly and nuchal oedema, bilateral radial defects, multiple hand malformations including bilateral hyperphalangy, brachymesophalangy, costovertebral abnormalities, and complex cardiac malformation. The present findings constitute a true MCA syndrome with uncertain pattern of inheritance. PMID:7888142

  8. Congenital malformations in Japanese macaques (Macaca fuscata) at Takasakiyama.

    PubMed

    Sugiyama, Yukimaru; Kurita, Hiroyuki; Matsui, Takeshi; Kimoto, Satoshi; Egawa, Junko

    2014-01-29

    From the late 1960s to the early 1970s, many congenitally malformed infants were born into provisioned Japanese macaque troops. Although the exact cause of this problem was not determined, the occurrence of malformations decreased thereafter. We examined possible factors such as total population size, number of adult females, birth rate, and volume of provisioned food. Agrichemicals attached to provisioned food are suspected as the main cause, as other factors were found to have no influence. Many more malformations were seen in males compared with females, in feet compared with hands, and in the fourth compared with other digits. We confirmed that the frequency of congenital malformation was high during the 1960s through to the mid-1970s when increased levels of provisioned food were given and that the incidence of congenital malformations was also elevated among wild macaques during this time. PMID:24474604

  9. Multiple Venous Malformations with Phleboliths: Radiological-Pathological Correlation

    PubMed Central

    Chava, Venkateswara Rao; Shankar, Ashwini Naveen; Vemanna, Naveen Shankar; Cholleti, Sudheer Kumar

    2013-01-01

    Vascular malformations are congenital lesions that are present at birth and do not regress. However, they often present later in life. They are subdivided into two categories: (1) slow- or low-flow and (2) fast- or high-flow malformations. Low-flow malformations contain combinations of capillary, venous, and lymphatic components. Venous malformations can occur anywhere in the body, but are most frequently seen in the head and neck (40%). These lesions present in a variety of ways, from a vague blue patch to a soft blue mass, which may be single isolated or may occur in multiple areas. Treatment depends on the type of lesion, the location, degree of involvement, and the clinical symptoms. Here we are report the imaging and histopathologic findings in a patient with multiple venous malformations affecting the left side of the face and trunk. PMID:24516776

  10. The study of malformations "by the company they keep".

    PubMed Central

    Miller, M T; Strömland, K

    1992-01-01

    Our study of individuals with thalidomide embryopathy reaffirms many of the principles of clinical teratology concerning sensitivity of developing structures and specificity of action. It also highlights important features of ocular teratology that differ from those of other organ systems. Because malformations of the eye and associated structures do not significantly threaten the survival of the embryo, fetus, or neonate, any variation in prevalence in older individuals is not due to the nature of the ocular malformation but may be significantly modified by "the company they keep," the systemic malformations occurring at the same time as the original insult, whether it be an environmental, a genetic, or a local disturbance. Additionally, the presence of clusters of malformations caused by a teratogen at a specific time supports the concept of a common pathogenic mechanism and provides suggested avenues for further research into the cause of these malformations. PMID:1494822

  11. Management of Femoral Shaft Fracture in Klippel-Trenaunay Syndrome with External Fixator

    PubMed Central

    Gupta, Yogendra; Jha, Ranjib Kumar; Karn, Navin Kumar; Sah, Sanjaya Kumar; Mishra, Bibhuti Nath; Bhattarai, Manoj Kumar

    2016-01-01

    Klippel-Trenaunay syndrome (KTS) is a rare complex malformation characterized by the clinical triad of capillary malformations, soft tissue and bone hypertrophy, and venous/lymphatic malformation. Fractures of long bones in such cases are challenging to treat. A 12-year-old female with this syndrome presented with femoral shaft fracture of right thigh. She was initially kept on skeletal traction for two weeks and then she underwent closed reduction and immobilization with external fixator with uneventful intraoperative and postoperative period. Fracture united at four and half months. PMID:26885423

  12. Epidermal nevus syndrome with maxillary involvement.

    PubMed

    Kaplan, I; Metzker, A; Calderon, S

    1993-10-01

    A female patient with epidermal nevus syndrome is reported. There were linear epidermal nevi, hemihyperplasia of the limbs and tongue, macrocephaly, several ophthalmic malformations, and multiple radiolucent lesions in the limbs and sacroiliac region. At age 14 years, she developed a giant cell granuloma of the maxilla. PMID:8245571

  13. Longevity and Patau syndrome: what determines survival?

    PubMed

    Peroos, Sherina; Forsythe, Elizabeth; Pugh, Jennifer Harriet; Arthur-Farraj, Peter; Hodes, Deborah

    2012-01-01

    The authors report of an 8-year-old girl with non-mosaic Patau syndrome. The median life expectancy of Patau syndrome is 7-10 days, and 90% die in the first year of life. Survival is often attributed to mosaicism and the severity of associated malformations. We delineate the developing phenotype and review the literature discussing potential contributory factors to longevity. PMID:23220825

  14. Longevity and Patau syndrome: what determines survival?

    PubMed Central

    Peroos, Sherina; Forsythe, Elizabeth; Pugh, Jennifer Harriet; Arthur-Farraj, Peter; Hodes, Deborah

    2012-01-01

    The authors report of an 8-year-old girl with non-mosaic Patau syndrome. The median life expectancy of Patau syndrome is 7–10?days, and 90% die in the first year of life. Survival is often attributed to mosaicism and the severity of associated malformations. We delineate the developing phenotype and review the literature discussing potential contributory factors to longevity. PMID:23220825

  15. Sturge–Weber syndrome – A case report

    PubMed Central

    Shaikh, Shahid M.; Goswami, Mousumi; Singh, Sanjay; Singh, Darrel

    2015-01-01

    Sturge–Weber syndrome (SWS), also called as encephalotrigeminal angiomatosis is an uncommon congenital neurological disorder & frequent among the neurocutaneous syndromes specifically with vascular predominance. This disorder is characterized by facial capillary malformation & other neurological condition. The oral manifestations are gingival hemangiomatosis restricting to either side in upper and lower jaw, sometimes bilateral. We report a case of SWS with oral, ocular and neurological features. PMID:25853049

  16. Syndromic Scoliosis

    MedlinePLUS

    ... Neurofibromatosis (NF) Noonan Syndrome VATER/VACTERL Syndrome Angelman Syndrome Rett Prader Willi Osteogenesis Imperfecta Trisomy 21 (Down's Syndrome) Symptoms Highly variable based on underlying syndrome and ...

  17. Transvenous Approach to Intracranial Arteriovenous Malformations: Challenging the Axioms of Arteriovenous Malformation Therapy?

    PubMed

    Choudhri, Omar; Ivan, Michael E; Lawton, Michael T

    2015-10-01

    : A compartmental conceptualization of intracranial arteriovenous malformations (AVMs) allows recognition of feeding arteries, an intervening plexiform nidus, and draining veins. AVM therapy involves eliminating the nidus, which is the source of hemorrhage, without compromising normal arterial and venous drainage of the brain. Traditional methods of AVM therapy through microsurgery and endovascular embolization involve arterial devascularization, with preservation of AVM venous drainage, until the nidus is excluded. The transvenous approach in treating vascular malformations was popularized by successful treatment models for dural arteriovenous fistulas. More recently, high-flow intracranial AVMs are being managed with transvenous endovascular approaches, although this novel technique has its challenges and perils. We review the current literature on transvenous AVM therapy and highlight its role for AVM therapy in the present day. PMID:26120797

  18. Microsurgical resection of ambient cistern arteriovenous malformation.

    PubMed

    Choudhri, Omar; Lawton, Michael T

    2016-01-01

    The middle tentorial incisural space, located lateral to the midbrain and medial to the temporal lobe, contains the ambient cistern through which courses the third, fourth, and fifth cranial nerves, posterior cerebral artery (PCA), superior cerebellar artery, and the choroidal arteries. Arteriovenous malformations (AVMs) in this compartment are supplied by the thalamogeniculate and posterior temporal branches of the PCA, and drain into tributaries of the basal vein of Rosenthal. We present a case of an AVM in this middle tentorial incisural space that persisted after embolization and radiosurgery, and was microsurgically resected through a subtemporal approach. This case demonstrates the anatomy of the middle incisural space and technical aspects in microsurgical resection of these rare AVMs. The video can be found here: https://youtu.be/V-dIWh8ys3E . PMID:26722691

  19. CT of thrombosed arteriovenous malformations in children

    SciTech Connect

    Mitnick, J.S.; Pinto, R.S.; Lin, J.P.; Rose, H.; Lieberman, A.

    1984-02-01

    Thrombosed arteriovenous malformations (AVMs) in children are rare lesions that may present with headaches or a seizure disorder. Thirteen patients (4 months to 21 years of age) with this lesion were examined with computed tomography (CT). In 11 patients surgical confirmation was obtained, and the other two patients were examined with follow-up CT scans. Angiography either showed an avascular mass (7/13) or was negative (6/13). CT showed a lobulated lesion (8/13), peripheral location (11/13), and minimal surrounding edema (8/13). All of the lesions were hyperdense prior to the administration of contrast material and all enhanced either slightly or not at all following contrast material administration. It is concluded that these characteristic CT features aid in making the diagnosis of thrombosed AVM. The major differential diagnosis is small intracerebral neoplasm.

  20. Multimodal device for assessment of skin malformations

    NASA Astrophysics Data System (ADS)

    Bekina, A.; Garancis, V.; Rubins, U.; Spigulis, J.; Valeine, L.; Berzina, A.

    2013-11-01

    A variety of multi-spectral imaging devices is commercially available and used for skin diagnostics and monitoring; however, an alternative cost-efficient device can provide an advanced spectral analysis of skin. A compact multimodal device for diagnosis of pigmented skin lesions was developed and tested. A polarized LED light source illuminates the skin surface at four different wavelengths - blue (450 nm), green (545 nm), red (660 nm) and infrared (940 nm). Spectra of reflected light from the 25 mm wide skin spot are imaged by a CMOS sensor. Four spectral images are obtained for mapping of the main skin chromophores. The specific chromophore distribution differences between different skin malformations were analyzed and information of subcutaneous structures was consecutively extracted.

  1. Diagnosis and management of pulmonary arteriovenous malformations

    PubMed Central

    Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S

    2002-01-01

    Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem. PMID:22368610

  2. Computational analyses of arteriovenous malformations in neuroimaging.

    PubMed

    Di Ieva, Antonio; Boukadoum, Mounir; Lahmiri, Salim; Cusimano, Michael D

    2015-01-01

    Computational models have been investigated for the analysis of the physiopathology and morphology of arteriovenous malformation (AVM) in recent years. Special emphasis has been given to image fusion in multimodal imaging and 3-dimensional rendering of the AVM, with the aim to improve the visualization of the lesion (for diagnostic purposes) and the selection of the nidus (for therapeutic aims, like the selection of the region of interest for the gamma knife radiosurgery plan). Searching for new diagnostic and prognostic neuroimaging biomarkers, fractal-based computational models have been proposed for describing and quantifying the angioarchitecture of the nidus. Computational modeling in the AVM field offers promising tools of analysis and requires a strict collaboration among neurosurgeons, neuroradiologists, clinicians, computer scientists, and engineers. We present here some updated state-of-the-art exemplary cases in the field, focusing on recent neuroimaging computational modeling with clinical relevance, which might offer useful clinical tools for the management of AVMs in the future. PMID:25521662

  3. Embolization of cerebral arteriovenous malformations with bucrylate.

    PubMed

    Debrun, G; Vinuela, F; Fox, A; Drake, C G

    1982-05-01

    Forty-six patients with cerebral arteriovenous malformations (AVM's) were selected for embolization with bucrylate. These patients were assigned to three different groups. Group I consisted of 22 patients with nonresectable AVM's who were selected for embolization with a Silastic calibrated-leak ballon. In 16 or these patients, embolization was achieved, with partial obliteration of the AVM in 14 and complete obliteration in two. Five patients had subarachnoid hemorrhage caused by the balloon bursting and concomitant dissection of the feeding vessel. Four of these patients recovered completely and one died of a brain-stem hemorrhage. A permanent field defect was noted in five cases, and two patients had a transient mild neurological deficit. Group II consisted of 13 patients treated by intraoperative embolization. Complete obliteration by embolization was obtained in four cases, and complete surgical resection after embolization in five. Partial embolization with no surgical resection was achieved in five cases. Three of these patients had a permanent mild neurological deficit and two had transient deficits. There was no mortality in this group. Group III consisted of 11 patients treated by embolization with bucrylate using a new latex calibrated-leak balloon. This balloon has a higher malleability, and takes on the exact configuration of the feeder, with no risk of dissection. This balloon also permits delivery of the faster and larger injection of bucrylate to the arterial feeders of the AVM. Two AVM's were completely obliterated, and embolization was only partially successful in the other cases. Neurological complications consisted of incomplete field defects in two cases, slight memory loss in one case, and transient clumsiness of the arm and face in one case. Two patients have a catheter permanently glued in the malformation, with no neurological complication. There was no mortality in this group. PMID:7069472

  4. Amplatzer vascular plugs in congenital cardiovascular malformations

    PubMed Central

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

  5. PHACE syndrome and congenitally absent thyroid gland at MR imaging.

    PubMed

    Mamlouk, Mark D; Yu, John-Paul J; Asch, Sarah; Mathes, Erin F

    2016-01-01

    PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging. PMID:26995578

  6. Extensive comedonal and cystic acne in Patau syndrome.

    PubMed

    Torrelo, Antonio; Fernandez-Crehuet, Pablo; Del Prado, Elena; Martes, Pilar; Hernández-Martín, Angela; De Diego, Verónica; Carapeto, Francisco

    2010-01-01

    Patau syndrome is a chromosomal disorder associated with multiple malformations caused by inheritance of an extra chromosome (trisomy 13). Some skin defects have been reported in patients with Patau syndrome, such as scalp defects, glabellar stains, deep palmar creases, rocker-bottom feet, convex soles, hyperconvextity of the nails, and multiple hemangiomas. To our knowledge, widespread comedonal and cystic acne have not been previously reported in Patau syndrome. PMID:20537076

  7. Syndromes, disorders and maternal risk factors associated with neural tube defects (I).

    PubMed

    Chen, Chih-Ping

    2008-03-01

    Fetuses with neural tube defects (NTDs) may be associated with syndromes, disorders, and maternal risk factors. This article provides a comprehensive review of syndromes, disorders, and maternal risk factors associated with NTDs, such as acrocallosal syndrome, autosomal dominant brachydactyly-clinodactyly syndrome, Manouvrier syndrome, short rib-polydactyly syndrome, Disorganization ( Ds )-like human malformations, isolated hemihyperplasia, X-linked NTDs, meroanencephaly, schisis association, diprosopus, fetal valproate syndrome, DiGeorge syndrome/velocardiofacial syndrome, Waardenburg syndrome, folic acid antagonists, diabetes mellitus, and obesity. NTDs associated with syndromes, disorders, and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders, and maternal risk factors may be different from those of non-syndromic multifactorial NTDs. Perinatal identification of NTDs should alert one to the syndromes, disorders, and maternal risk factors associated with NTDs, and prompt a thorough etiologic investigation and genetic counseling. PMID:18400576

  8. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.

    PubMed

    Alessandri, L; Brayer, C; Attali, T; Samperiz, S; Tiran-Rajaofera, I; Ramful, D; Pilorget, H

    2005-01-01

    Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome. PMID:16440878

  9. Marfan's syndrome: an overview.

    PubMed

    Yuan, Shi-Min; Jing, Hua

    2010-12-01

    Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder. PMID:21308160

  10. A case report: Pulmonary venous malformation complicated with pulmonary hemorrhage.

    PubMed

    Supakul, Nucharin; Fan, Rong; Karmazyn, Boaz

    2012-12-01

    Pulmonary venous malformation is extremely rare. We present imaging and clinical findings of a 17-year-old male with multifocal subcutaneous venous malformations and multiple cystic lesions in the liver and spleen, suggestive of slow flow vascular malformation. In the right lung, chest radiography followed by chest CT demonstrated large tortuous pulmonary veins and cystic emphysematous changes. Tc99m-MAA (pertechnetate-labeled macroaggregated albumin) lung perfusion scan demonstrated only 3% of normal perfusion to the right lung, with no evidence of arteriovenous shunting. The child had diffuse intraparenchymal hemorrhage throughout the right lower and middle lobes and underwent resection. Pathology confirmed the diagnosis of venous malformation complicated with bleeding. PMID:23217914

  11. Management strategy after diagnosis of Abernethy malformation: a case report

    PubMed Central

    2012-01-01

    Introduction The Abernethy malformation is a rare anomaly with a widely variable clinical presentation. Many diagnostic dilemmas have been reported. Nowadays, with the evolution of medical imaging, diagnosis can be made more easily, but management of patients with an Abernethy malformation is still open for discussion. Case presentation In this case study, we describe a 34-year-old Caucasian man who presented with a large hepatocellular carcinoma in the presence of an Abernethy malformation, which was complicated by the development of pulmonary arterial hypertension. Conclusion This case underlines the importance of regular examination of patients with an Abernethy malformation, even in older patients, to prevent complications and to detect liver lesions at an early stage. PMID:22742057

  12. MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED GOOD CASTINGS PRIOR TO ANNEALING. - Stockham Pipe & Fittings Company, Malleable Annealing Building, 4000 Tenth Avenue North, Birmingham, Jefferson County, AL

  13. Hemihyperplasia with Ehlers-Danlos syndrome like skin changes.

    PubMed

    Dalal, Ashwin; Phadke, Shubha R

    2005-10-01

    Hemihyperplasia is a condition characterized by asymmetric overgrowth of one or more body parts. It may be an isolated finding or may be associated with various syndromes like Beckwith-Weidemann syndrome, Klippel-Trenaunay-Weber syndrome, Proteus syndrome etc. Pigmentary skin lesions and capillary malformations are commonly seen in cases of hemihyperplasia. We report a case of hemihyperplasia with associated skin hyperextensibility, varicose veins, skin fragility, easy bruising and papery scars, on the side of hyperplasia. This is the first report of association of isolated hemihyperplasia with skin changes similar to Ehlers-Danlos syndrome. PMID:16155424

  14. Prenatal diagnosis of Robinow syndrome: a case report.

    PubMed

    Castro, Simon; Peraza, Efren; Barraza, Astrid; Zapata, Marco

    2014-06-01

    Robinow syndrome, also known as fetal face syndrome, is a rare genetically heterogeneous condition characterized mainly by mesomelic limb shortening, facial malformations, and genital abnormalities. This report describes the sonographic findings in a case of autosomal-dominant Robinow syndrome diagnosed at 23.1 weeks' gestation, in a patient with no history of affected relatives. Here we describe the sonographic characteristics of this syndrome from the diagnosis until birth. The prenatal and postnatal findings, the differential diagnosis, and the prognosis of patients with this syndrome are discussed. © 2013 Wiley Periodicals, Inc. J Clin Ultrasound, 42:297-300, 2014. PMID:24151023

  15. Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil.

    PubMed

    Vianna, G S; Medeiros, P F V; Alves, A F; Silva, T O; Jehee, F S

    2016-01-01

    In several patients, intellectual disability and/or congenital malformation may be attributed to chromosomal changes. In this study, we conducted an array-CGH test of 200 patients from the Northeast of Brazil with intellectual disability and/or congenital malformation. Blood samples were collected from the proband and from their parents when possible. DNA was extracted and investigated using the array-CGH test. Findings were evaluated for the pathogenicity in databases of benign and pathogenic changes (ISCA, UCSC, DGV, and DECIPHER). Forty-seven copy number variations (CNVs) were identified in 43/200 (21.5%) patients, including 25/98 (25.5%) in males and 22/102 (21.57%) in females. We considered 33 of these to be clinically significant, reaching a diagnosis rate of 16.5%. The sizes of the CNVs varied from 102 kb to 24 Mb in deletions and from 115 kb to 140 Mb in duplications. In 10/47 (21.3%) patients, the rearrangement involved a sex chromosome. Thirty-nine patients had one chromosomal aberration, while 2 concomitant abnormalities were detected in 4 patients. Ten of 47 CNVs (21.3%) were > 5Mb in size. Fifteen patients had CNVs related to known syndromes. This research highlights the contribution of submicroscopic chromosomal changes to the etiology of intellectual disability and/or congenital malformation, particularly the implication of chromosomal abnormalities detected using an array-CGH test, with a high rate of 16.5%. Thus, our results support the use of array-CGH replacing standard karyotype as the first-tier cytogenetic diagnostic test for patients with multiple congenital anomalies and/or intellectual disability. PMID:26909975

  16. Oral encapsulated vascular malformation: An undescribed presentation in the mouth

    PubMed Central

    Dias, Márcio-Américo; Dias, Pedro-de Souza; Martínez-Martínez, Marisol; Sena-Filho, Marcondes; de Almeida, Oslei-Paes

    2016-01-01

    Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity. PMID:26855712

  17. Multiple medullary venous malformations decreasing cerebral blood flow: Case report

    SciTech Connect

    Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. )

    1991-02-01

    A rare case of multiple medullary venous malformations in the right cerebral hemisphere is reported. The literature review yielded only one case of multiple medullary venous malformations. Computed tomography scan showed multiple calcified lesions with linear contrast enhancement representing abnormal dilated vessels and mild atrophic change of the right cerebral hemisphere. Single-photon emission computed tomography using N-isopropyl-p-({sup 123}I) iodoamphetamine demonstrated decreased cerebral blood flow in the right cerebral hemisphere.

  18. Novel transcatheter closure of internal iliac arteriovenous malformation.

    PubMed

    Shankarappa, Ravindranath Khandenahally; Panneerselvam, Arunkumar; Dwarakaprasad, Ramesh; Chikkaswamy, Srinivas Budanur; Nayak, Mohan Honnayya; Nanjappa, Manjunath Cholenahally

    2011-05-01

    Arteriovenous malformations arising from iliac arteries are rare anomalies. Percutaneous embolization of such malformations is an established therapeutic option. In this paper, we will describe a case, wherein the internal iliac artery feeding a giant arteriovenous fistula was closed using a patent ductus arteriosus (PDA) duct occluder percutaneously. The PDA duct occluder is a versatile device that can be used as an alternative to vascular plugs. PMID:24122535

  19. Megalocornea and mental retardation syndrome: clinical and instrumental follow-up of a case.

    PubMed

    Margari, Lucia; Presicci, Anna; Ventura, Patrizia; Buttiglione, Maura; Dicuonzo, Franca; Lattarulo, Caterina; Perniola, Tommaso

    2006-10-01

    Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. Only 36 cases have been reported in the literature. We describe the clinical and instrumental follow-up, lasting 5 years, of a case showing the typical features of the syndrome, associated with transient hypothyroidism, epilepsy, cerebral palsy with choreoathetotic movements, and brain malformation. Our report might help better delineate the phenotype and natural history of the syndrome. PMID:17005108

  20. Limb malformations and abnormal sex hormone concentrations in frogs.

    PubMed Central

    Sower, S A; Reed, K L; Babbitt, K J

    2000-01-01

    Declines in amphibian populations, and amphibians with gross malformations, have prompted concern regarding the biological status of many anuran species. A survey of bullfrogs, Rana catesbeiana, and green frogs, Rana clamitans, conducted in central and southern New Hampshire showed malformed frogs at 81% of the sites sampled (13 of 16 sites). Brain gonadotropin-releasing hormone (GnRH) and the synthesis of androgens and estradiol, hormones essential to reproductive processes, were measured from limb-malformed and normal (no limb malformation) frogs. Normal frogs had significantly higher concentrations (nearly 3-fold) of in vitro produced androgens and of brain GnRH than malformed frogs. Because most malformations are thought to occur during development, we propose that environmental factors or endocrine-disrupting chemicals that may cause developmental abnormalities also act during early development to ultimately cause abnormally reduced GnRH and androgen production in adult frogs. The consequences of reduced GnRH and androgens on anuran reproductive behavior and population dynamics are unknown but certainly may be profound and warrant further research. PMID:11102301

  1. Eye malformations in Cameroonian children: a clinical survey

    PubMed Central

    Eballé, André Omgbwa; Ellong, Augustin; Koki, Godefroy; Nanfack, Ngoune Chantal; Dohvoma, Viola Andin; Mvogo, Côme Ebana

    2012-01-01

    Summary The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital. Patients and methods We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009. Results Out of the 2254 children who were examined, 150 (6.65%) presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%), congenital cataract (10.9%), congenital glaucoma (10.9%), microphthalmos (5.03%), and congenital ptosis (3.77%). Conclusion Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management. PMID:23055685

  2. Sleep Spindle Alterations in Patients with Malformations of Cortical Development

    PubMed Central

    Selvitelli, Megan F.; Krishnamurthy, Kaarkuzhali B.; Herzog, Andrew G.; Schomer, Donald L.; Chang, Bernard S.

    2009-01-01

    Malformations of cortical development are disorders of altered brain anatomy and architecture that arise from abnormalities in the usual processes of cerebral cortical development. Although they often lead to epilepsy, cognitive delay, and motor impairment, little is known about their effect on sleep. Since malformations may anatomically or functionally disrupt the cerebral circuits that mediate sleep spindles, we hypothesized that these disorders would be associated with abnormal spindle characteristics. We analyzed the density, maximum frequency, laterality and distribution of sleep spindles seen in routine and long-term electroencephalographic recordings performed in ten brain malformation subjects and ten matched controls. There were no significant differences in spindle density or maximum frequency between the two groups, but malformation subjects had a significantly lower proportion of bilateral spindles and a significantly higher proportion of anterior and diffuse spindles compared to controls. In addition, unilateral malformations appeared to be associated with a skewing of unilateral spindles toward the contralateral side. Our findings suggest that brain malformations disrupt the thalamocortical circuits responsible for sleep spindle generation, and support the need for further studies on the relationships between cortical maldevelopment and sleep. PMID:18667284

  3. 576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy.

    PubMed

    Zhu, Xin; Zhang, Yi; Wang, Jian; Yang, Jin-Fu; Yang, Yi-Feng; Tan, Zhi-Ping

    2013-10-10

    1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD) and other malformations with SNP-array. In a syndromic patient of the same cohort, we detected a small deletion of 1p36.33-p36.32 containing SKI (Sloan-Kettering Institute protooncoprotein). Recently, dominant mutations in SKI were identified to be correlated with Shprintzen-Goldberg syndrome. Retrospective examination revealed this patient with limb malformations, CHD, epilepsy and mild development delay. Together with previous reports, our study suggests that the 1p36.33-1p36.32 deletion encompassing SKI may represents a previous undescribed microdeletion disorder. PMID:23892090

  4. Hypofractionated stereotactic radiotherapy for large arteriovenous malformations

    PubMed Central

    Wang, Huan-Chih; Chang, Rachel J.; Xiao, Furen

    2012-01-01

    Cerebral arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins, with possible serious consequences of intracranial hemorrhage. The curative treatment for AVMs includes microsurgery and radiosurgery, sometimes with embolization as an adjunct. However, controversies exist with the treatment options available for large to giant AVMs. Hypofractionated stereotactic radiotherapy (HSRT) is one treatment option for such difficult lesions. We aim to review recent literature, looking at the treatment outcome of HSRT in terms of AVM obliteration rate and complications. The rate of AVM obliteration utilizing HSRT as a primary treatment was comparable with that of stereotactic radiosurgery (SRS). For those not totally obliterated, HSRT makes them smaller and turns some lesions manageable by single-dose SRS or microsurgery. Higher doses per fraction seemed to exhibit better response. However, patients receiving higher total dose may be at risk for higher rates of complications. Fractionated regimens of 7 Gy × 4 and 6–6.5 Gy × 5 may be accepted compromises between obliteration and complication. Embolization may not be beneficial prior to HSRT in terms of obliteration rate or the volume reduction. Future work should aim on a prospectively designed study for larger patient groups and long-term follow-up results. PMID:22826813

  5. Vascular permeability in cerebral cavernous malformations.

    PubMed

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik B W; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-10-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy. PMID:25966944

  6. Stereotactic linac radiosurgery for arteriovenous malformations.

    PubMed Central

    Kenny, B G; Hitchcock, E R; Kitchen, G; Dalton, A E; Yates, D A; Chavda, S V

    1992-01-01

    Stereotactic linear accelerator (linac) radiosurgery has been in operation in the West Midlands since 1987, the first of its kind in the United Kingdom. Forty two patients with high-flow cerebral arteriovenous malformations have been treated, 26 of whom have been followed up. Angiography one year after treatment showed that five lesions were obliterated, 11 were reduced in size and/or flow rate and 10 were unchanged. Overall results show that nine out of 10 patients reviewed at 24 months had total obliteration. Three patients had complications; one has fully recovered, one died of an unrelated cause at 36 months and the other died from recurrent haemorrhage at nine months. Two patients had recurrent non-fatal haemorrhage within 24 months of treatment; both recovered without further deficit. All patients are fit to work but eight are unemployed. Although the follow up period is short, the early results indicate a success rate similar to those published by others using linac radiosurgery. Images PMID:1640237

  7. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  8. Gastroesophageal reflux and congenital gastrointestinal malformations.

    PubMed

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  9. [Stereotactically targeted radiotherapy of cerebral arteriovenous malformations].

    PubMed

    Kimmig, B; Engenhart, R; Wowra, B; Höver, K H; Marin-Grez, M; Sturm, V

    1989-09-01

    A report is given about radiotherapy in 41 patients suffering from cerebral vessel anomalies. A modified linear accelerator was used in a moving field technique with multiple pendulum planes to apply single doses between 8 and 28 Gy by means of stereotaxis into the angiographically determined target volume. The medium follow-up is 23 months. The latency of radiogenic effects is between one and two years. Radiological controls with an interval of more than 18 months after therapy are available in 17 out of 41 patients. Angiographic investigation showed complete obliterations of pathological vessels in six out of these patients and partial obliterations in six patients; five patients remained unchanged. There were no acute complications. Seven patients presented neurological deficiencies with a latency of 6 to 12 months, however, in all cases but one they regressed completely. Even taking into consideration the small number of patients and the short time of observation, a comparison with the results of other radiotherapeutical proceedings allows to draw the conclusion that the presented technique of stereotaxic convergent-beam irradiation represents a relatively simple, reliable and, in case of precise indication, efficient method for the therapy of cerebral arteriovenous malformations. PMID:2678547

  10. Implications of an Incidental Pulmonary Arteriovenous Malformation

    PubMed Central

    Holden, Van K.; Shah, Nirav G.; Verceles, Avelino C.

    2016-01-01

    Introduction. Pulmonary arteriovenous malformations (PAVMs) have been associated with life-threatening complications, such as stroke and massive hemoptysis, thus posing significant morbidity if left untreated. We report a case of an incidental finding of a PAVM in a trauma patient newly recognized to have suspected hereditary hemorrhagic telangiectasia (HHT). Case Description. A 34-year-old man with a history of recurrent epistaxis presented with a sudden fall associated with seizure-like activity. Trauma imaging showed a large subdural hematoma and, incidentally, a serpiginous focus within the right upper lobe with a prominent feeding artery consistent with a PAVM. The patient was diagnosed with a simple PAVM related to possible or suspected HHT, an autosomal dominant trait with age-related penetrance. He underwent a pulmonary arteriography of the right upper and lower lobe with the use of a microcatheter system; however, the PAVM could not be visualized. Thus, he was managed medically. The patient was educated on the need for prophylactic antibiotics prior to dental procedures and surveillance imaging. Discussion. Our case highlights the importance of obtaining a complete past medical and family history in young patients with a history of recurrent epistaxis to elicit features of HHT. The diagnosis can be made clinically and directly affects family members, who would otherwise not receive appropriate screening.

  11. Arteriovenous malformation of the vestibulocochlear nerve

    PubMed Central

    Tucker, Adam; Tsuji, Masao; Yamada, Yoshitaka; Hanabusa, Kenichiro; Ukita, Tohru; Miyake, Hiroji; Ohmura, Takehisa

    2015-01-01

    We describe a rare case of an arteriovenous malformation (AVM) embedded in the vestibulocochlear nerve presenting with subarachnoid hemorrhage (SAH) treated by microsurgical elimination of the main feeding artery and partial nidus volume reduction with no permanent deficits. This 70-year-old woman was incidentally diagnosed 4 years previously with two small unruptured tandem aneurysms (ANs) on the right anterior inferior cerebral artery feeding a small right cerebellopontine angle AVM. The patient was followed conservatively until she developed sudden headache, nausea and vomiting and presented to our outpatient clinic after several days. Magnetic resonance imaging demonstrated findings suggestive of early subacute SAH in the quadrigeminal cistern. A microsurgical flow reduction technique via clipping between the two ANs and partial electrocoagulation of the nidus buried within the eighth cranial nerve provided radiographical devascularization of the ANs with residual AVM shunt flow and no major deficits during the 2.5 year follow-up. This is only the second report of an auditory nerve AVM. In the event of recurrence, reoperation or application of alternative therapies may be considered. PMID:26244159

  12. Diagnosis and evaluation of intracranial arteriovenous malformations

    PubMed Central

    Conger, Andrew; Kulwin, Charles; Lawton, Michael T.; Cohen-Gadol, Aaron A.

    2015-01-01

    Background: Ideal management of intracranial arteriovenous malformations (AVMs) remains poorly defined. Decisions regarding management of AVMs are based on the expected natural history of the lesion and risk prediction for peritreatment morbidity. Microsurgical resection, stereotactic radiosurgery, and endovascular embolization alone or in combination are all viable treatment options, each with different risks. The authors attempt to clarify the existing literature's understanding of the natural history of intracranial AVMs, and risk-assessment grading scales for each of the three treatment modalities. Methods: The authors conducted a literature review of the existing AVM natural history studies and studies that clarify the utility of existing grading scales available for the assessment of peritreatment risk for all three treatment modalities. Results: The authors systematically outline the diagnosis and evaluation of patients with intracranial AVMs and clarify estimation of the expected natural history and predicted risk of treatment for intracranial AVMs. Conclusion: AVMs are a heterogenous pathology with three different options for treatment. Accurate assessment of risk of observation and risk of treatment is essential for achieving the best outcome for each patient. PMID:25984390

  13. The Eisenmenger malformation: a morphologic study.

    PubMed

    Restivo, Angelo; di Gioia, Cira R T; Anderson, Robert H; Carletti, Raffaella; Gallo, Pietro

    2016-02-01

    We studied 11 autopsied cases of the Eisenmenger malformation, comparing the findings with 11 hearts with intact ventricular septal structures, and nine hearts having perimembranous ventricular septal defects in the absence of aortic overriding. We found variable lengths for the subpulmonary infundibulum in the hearts with Eisenmenger defects. It was well developed in three hearts, of intermediate length in seven, and very short in one of the specimens. The muscular outlet septum was also of variable length compared with the free-standing subpulmonary infundibular sleeve. Except for one, all hearts had fibrous continuity between the aortic and tricuspid valvar leaflets, such that the ventricular septal defect was then perimembranous. In the remaining case, there was a completely subaortic muscular infundibulum, with the ventricular septal defect showing only muscular borders. The medial papillary muscle was absent in the majority of cases, but was well formed in three hearts, all with relatively short muscular outlet septums. We identified mild, intermediate, and severe degrees of rightward rotation of the aortic valve, and these findings correlated with the extent of aortic valvar overriding. In nine of the 11 hearts, the ventriculo-arterial connections were concordant, but there was double-outlet from the right ventricle in the other two specimens. Based on our anatomic and morphometric observations, we conclude that the hearts we have defined as having Eisenmenger defects show marked individual variation in their specific phenotypic anatomy. PMID:25687391

  14. Kousseff syndrome: A fifth case?

    SciTech Connect

    Laux, R.A.; Hamilton, W.; Pinette, M.

    1994-09-01

    Kousseff originally described three siblings with an open sacral myelomeningocele, conotruncal cardiac malformations, low-set, posteriorly rotated ears, retrognathia, a short neck with a low posterior hairline, and renal agenesis as a new autosomal recessive condition. Open neural tube lesions and complex conotruncal cardiac defects are relatively common malformations, both as isolated defects and individually as components of syndromes, but they have been found together only rarely, as part of chromosomal syndromes or following maternal exposures. Toriello et al. reported a fourth case and suggested the eponym Kousseff syndrome for myelomeningcocele, conotruncal defects and minor facial abnormalies. We report a fifth probable case. This male infant was born by spontaneous vaginal delivery at 38 weeks gestation to a 23-year-old G{sub 2}P{sub 1001} mother. Pregnancy was complicated by an elevated alpha-fetoprotein at 16 weeks gestation, followed by an ultrasound diagnosis of an open disease. After birth, physical examination also revealed dysmorphic facies, with a bulbous nose and low-set, posteriorly rotated ears, bilateral 5th finger clinodactyly and hypotonia. Echocardiogram demonstrated complex conotruncal malformations. The patient underwent closure of the myelomeningocele but died at one month of age. Chromosomal analysis was normal (46,XY). Because conotruncal heart defects have been associated with deletions on chromosome 22, FISH analysis using a probe for the DiGeorge syndrome on the long arm of chromosome 22 was performed. It indicated no detectable deletion within this critical region on 22q11. Nonetheless there remains the possibility of a gene (or genes) located on 22q that could produce findings of this rare multiple congenital anomaly syndrome when disrupted. Therefore, further investigation on this chromosome is warranted.

  15. Trigeminal Neuralgia Caused by Cerebellopontine Angle Arteriovenous Malformation Treated With Gamma Knife Radiosurgery.

    PubMed

    Işik, Semra; Ekşi, Murat Şakir; Yilmaz, Baran; Toktaş, Zafer Orkun; Akakin, Akin; Kiliç, Türker

    2016-01-01

    Trigeminal neuralgia is a facial pain syndrome characterized as sudden onset and lightening-like sensation over somatosensorial branch(es) of fifth cranial nerve. Rarely, some underlying diseases or disorders could be diagnosed, such as multiple sclerosis, brain tumors, and vascular malformations. The authors present a 47-year-old man with trigeminal neuralgia over left V2 and V3 dermatomes. He had a previous transarterial embolization and long use of carbamazepine with partial response to treatment. Gamma knife radiosurgery (GKR) was planned. A marginal dose of 15 Gy was given to 50% isodose line. His pain was relieved by GKR in 1.5 years. Treatment of posterior fossa arteriovenous malformations causing trigeminal neuralgia, with GKR has a very limited use in the literature. It, however, is obvious that success rate as pain relief, in a very challenging field of functional neurosurgery, is satisfactory. Large series, however, are in need to make a more comprehensive statement about efficacy and safety of the procedure in these pathologies. PMID:26674920

  16. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

    PubMed

    Courcet, Jean-Benoît; Minello, Anne; Prieur, Fabienne; Morisse, Laurent; Phelip, Jean-Marc; Beurdeley, Alain; Meynard, Daniel; Massenet, Denis; Lacassin, Flore; Duffourd, Yannis; Gigot, Nadège; St-Onge, Judith; Hillon, Patrick; Vanlemmens, Claire; Mousson, Christiane; Cerceuil, Jean-Pierre; Guiu, Boris; Thevenon, Julien; Thauvin-Robinet, Christel; Jacquemin, Emmanuel; Rivière, Jean-Baptiste; Michel-Calemard, Laurence; Faivre, Laurence

    2015-12-01

    Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability. Rare familial cases of CD had been reported and exceptional cases of CD are associated with PKHD1 variants. In a family of three siblings presenting with a wide spectrum of severity of DPM, we performed whole exome sequencing and identified two PKHD1 compound heterozygous variants (c.10444G>A; p.Arg3482Cys and c.5521C>T; p.Glu1841Lys), segregating with the symptoms. Two compound heterozygous PKHD1 variants, including one hypomorphic variant, were identified in two other familial cases of DPM with at least one patient presenting with CD. This report widens the phenotypic variability of PKHD1 variants to VMC, and others hepatic bile ducts malformations with inconstant renal phenotype in adults and highlights the important intra-familial phenotypic variability. It also showed that PKHD1 might be a major gene for CD. This work adds an example of the contribution of exome sequencing, not only in the discovery of new genes but also in expanding the phenotypic spectrum of well-known disease-associated genes, using reverse phenotyping. © 2015 Wiley Periodicals, Inc. PMID:26385851

  17. Proteus syndrome: evaluation of the immunological profile.

    PubMed

    Lougaris, Vassilios; Salpietro, Vincenzo; Cutrupi, Maricia; Baronio, Manuela; Moratto, Daniele; Pizzino, M R; Mankad, Kshitij; Briuglia, Silvana; Salpietro, Carmelo; Plebani, Alessandro

    2016-01-01

    Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse.We report on the novel immunologic findings of a 15 years old girl affected with PS. Detailed T and B cell evaluation revealed maturational alterations for both subsets and functional hyperactivation for the latter. Such findings have not been reported previously in PS and may be the spy of more complex immune abnormalities in this syndrome. PMID:26758562

  18. Fryns syndrome phenotype and trisomy 22

    SciTech Connect

    Ladonne, J.M.; Gaillard, D.; Carre-Pigeon, F.; Gabriel, R.

    1996-01-02

    Trisomy 22 was detected in a 32-week-old fetus born to an overweight mother with hypertension. Severe intrauterine growth retardation was associated with phenotypic manifestations of Fryns Syndrome: Diaphragmatic hernia, facial defects, and nail hypoplasia with short distal fifth phalanges. This is the second report of congenital diaphragmatic hernia in trisomy 22. This case demonstrates the importance of karyotyping malformed fetuses or newborns, even if a nonchromosome syndrome seems identifiable on clinical grounds. To date, at least 10 cases of Fryns syndrome have been reported without chromosome analysis. 32 refs., 2 figs.

  19. Down syndrome with congenital hydrocephalus: case report.

    PubMed

    Forcelini, Cassiano Mateus; Mallmann, Adroaldo Baseggio; Crusius, Paulo Sérgio; Seibert, Cláudio Albano; Crusius, Marcelo Ughini; Zandoná, Denise Isabel; Carazzo, Charles; Crusius, Cassiano Ughini; Goellner, Eduardo; Ragnini, Jean; Manzato, Luciano Bambini; Winkelmann, Gustavo; Lima, Aline Vieira; Bauermann, Manfred Georg

    2006-09-01

    Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. The case of a male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. The patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome. PMID:17057901

  20. Sturge - Weber syndrome.

    PubMed

    Kumar, V; Prasad, B K

    2004-01-01

    Sturge - Weber syndrome (SWS) is a rare disorder that occur with a frequency of approximately 1 per 50,0001. It isa neurocutaneous syndrome, characterized by a facial vascular birthmark and neurological abnormalities. The hallmark is intracranial vascular angioma, most often involving the occipital and posterior parietal lobes, but it can also affect the other cortical regions. An ipsilateral facial cutaneous vascular malformation (port wine nevus)usually affects the upper face. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis,mental retardation and delayed developmental milestones. This article reports a case of 8 years old boy who presented with weakness of right half of body since birth, mental retardation and delayed developmental milestones. Clinical examination revealed deep purple nevus on left lower face, and less power of left upper & lower limbs.X-ray skull showed calcification. C.T. Scan of brain revealed curvilinear calcification with focal atrophy. PMID:16388255

  1. [Vertebral and multiple organ malformations in a black and white German Holstein calf].

    PubMed

    Buck, Bettina Constanze; Ulrich, Reiner; Wöhlke, Anne; Kuiper, Heidi; Baumgärtner, Wolfgang; Distl, Ottmar

    2010-01-01

    A male black and white German Holstein calf showed a congenital, high-graded scoliosis and rotation of the thoracal spinal cord associated with shortening and fusion of multiple vertebral bodies and abnormal bending of the processus spinosus. Furthermore reduced birth weight, partial hypoplasia of the lung, excessive liver segmentation, doubled gall bladder, rectal atresia, horseshoe kidney, and uterine atresia were found. Due to the exclusion of a point mutation in exon 4 of the solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3) gene, complex vertebral malformation (CVM) was ruled out. Conclusively, it is hypothetized that the presented case resembles a new brachyspina syndrome with a still unresolved genetic etiology. PMID:20496833

  2. Congenital cystic adenomatoid malformation of the lung. Presentation of 16 cases.

    PubMed

    Beluffi, G; Brokensha, C; Kozlowski, K; Lucaya, J; Masel, J; Morris, L; Rosso, R; Stronati, M; Thomson, R

    1989-05-01

    Congenital cystic adenomatoid malformation (CCAM) of the lung is one of the rarest causes of neonatal distress. The principal radiological sign of CCAM is an intrapulmonary mass of soft tissue density, containing cystic areas of different sizes and shapes. The mass usually compresses the rest of the affected lung and displaces the mediastinum and heart to the opposite side, compressing the lung which is often therefore hypoplastic. If CCAM is diagnosed in utero by ultrasound, the treatment of choice is surgery as soon as possible after birth, with good survival rates. Sixteen cases of CCAM are presented, one with bilateral disease, diagnosed at different times, and one with an associated prune belly syndrome, to be added to the 405 already reported in the literature, and their clinical, radiological and pathological features are described. PMID:2541476

  3. Sturge-Weber syndrome.

    PubMed

    Comi, Anne M

    2015-01-01

    Sturge-Weber syndrome is the third most common neurocutaneous disorder, after neurofibromatosis and tuberous sclerosis, and impacts approximately 1 in 20000 live births. Sturge-Weber syndrome is not inherited, but rather occurs exclusively sporadically, in both males and females and in all races and ethnic backgrounds. Sturge-Weber syndrome presents at birth with a capillary malformation on the face (port-wine birthmark) with later diagnosis of abnormal vasculature in the eye and the brain which result in a range of complications. The underlying somatic mosaic mutation causing both Sturge-Weber syndrome and isolated port-wine birthmarks was recently discovered and is an activating mutation in GNAQ. When a newborn presents with a facial port-wine birthmark on the upper face, that child has a 15-50% risk of developing Sturge-Weber syndrome brain and/or eye involvement, depending on the extent of the birthmark, and close monitoring and appropriate screening is essential for early diagnosis and optimal treatment. Treatment options include laser therapy for lightening of the birthmark, eye drops and surgery for glaucoma management, and aggressive anticonvulsant treatment, low dose aspirin, and neurosurgery where necessary. Future possible treatments based upon new knowledge of the somatic mutation and downstream pathways are currently being considered and studied. PMID:26564078

  4. Syndrome d'Apert chez un congolais de 60 ans: à propos d'une observation

    PubMed Central

    Ngombe, Léon Kabamba; Kabamba, Christophe Mwamba; Nday, David Kakez; Fundi, Jimmy Ngoie; Kitenge, Tony Kayembe; Numbi, Luboya

    2015-01-01

    Le syndrome d'Apert est une rare acrocéphalosyndactylie caractérisée par une dysmorphie crânio-faciale avec une crâniosténose, une syndactylie aux mains et aux pieds et d'autres malformations cérébrales. La coexistence de plusieurs malformations avec un important lot de préjudices esthétiques constitue la gravité de ce syndrome. Une prise en charge précoce et multidisciplinaire s'avère important. Les auteurs rapportent une observation rare d'un syndrome d'apert chez un patient congolais âgé de 60 ans qui n'a jamais bénéficié d'une prise en charge. Ainsi, cette observation décrit les aspects cliniques et évolutifs de cette affection. PMID:26309466

  5. [The obstetrical outlook in uterine malformations].

    PubMed

    Rudigoz, R C; Gaucherand, P; Dargent, D

    1989-01-01

    The authors start with an anatomical description which makes it possible to distinguish from one another septate, bicornuate unicornuate and pseudo-cornuate uteri. The diagnosis is often suggested by the clinical features and is made by using complementary examinations such as ultrasound, hysterography, hysteroscopy and laparoscopy. Although it is difficult to be sure of the incidence of the condition it is thought to be around 1%. In the 10 years from 1978 to 1987 the authors have studied 296 pregnancies occurring in 109 patients who were not operated on and 34 pregnancies occurring in 21 patients who had plastic operations on their uteri. They show that the condition has an effect at all stages of pregnancy and delivery and in the first category of patients (abortion in 38%, extra-uterine pregnancy in 8%, prematurity, pre-eclampsia and malpresentation in 28%, with a high rate for caesarean section in 37%). The prognosis was quite different in patients who had been operated on. The published literature confirms these findings. The authors discuss the different ways of carrying out surgical treatment (simple section or excision of the septum, or Bret-Palmer's plastic operation on the uterus with treatment of the associated vaginal abnormalities), plus the medical treatment (with rest and the use of vasodilatators and drugs for anti-platelet aggregation) to be used during the pregnancy. They conclude that it is necessary to make a diagnosis of what type of malformation is present, to decide which surgical procedures to carry out as this does improve the prognosis greatly. PMID:2723350

  6. Repeat radiosurgery for cerebral arteriovenous malformations.

    PubMed

    Awad, Ahmed J; Walcott, Brian P; Stapleton, Christopher J; Ding, Dale; Lee, Cheng-Chia; Loeffler, Jay S

    2015-06-01

    We perform a systematic review of repeat radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeat radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42Gy and 19.06Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9-71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8months. The most common complications of repeat radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at 3 years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. PMID:25913746

  7. Surgical Strategies for Acutely Ruptured Arteriovenous Malformations.

    PubMed

    Martinez, Jaime L; Macdonald, R Loch

    2015-11-01

    Brain arteriovenous malformations (AVMs) are focal neurovascular lesions consisting of abnormal fistulous connections between the arterial and venous systems with no interposed capillaries. This arrangement creates a high-flow circulatory shunt with hemorrhagic risk and hemodynamic abnormalities. While most AVMs are asymptomatic, they may cause severe neurological complications and death. Each AVM carries an annual rupture risk of 2-4%. Intracranial hemorrhage due to AVM rupture is the most common initial manifestation (up to 70% of presentations), and it carries significant morbidity and mortality. This complication is particularly important in the young and otherwise healthy population, in whom AVMs cause up to one-third of all hemorrhagic strokes. A previous rupture is the single most important independent predictor of future hemorrhage. Current treatment modalities for AVM are microsurgery, endovascular embolization, and radiosurgery. In acutely ruptured AVMs, early microsurgical excision is usually avoided. The standard is to wait at least 4 weeks to allow for patient recovery, hematoma liquefaction, and inflammatory reactions to subside. Exceptions to this rule are small, superficial, low-grade AVMs with elucidated angioarchitecture, for which early simultaneous hematoma evacuation and AVM excision is feasible. Emergent hematoma evacuation with delayed AVM excision (unless, as mentioned, the AVM is low grade) is recommended in patients with a decreased level of consciousness due to intracranial hemorrhage, posterior fossa or temporal lobe hematoma of >30 ml, or hemispheric hematoma of >60 ml. The applicability of endovascular techniques for acutely ruptured AVMs is not clear, but feasible options, until a definitive treatment is determined, include occluding intranidal and distal flow-related aneurysms and 'sealing' any rupture site or focal angioarchitectural weakness when one can be clearly identified and safely accessed. Radiosurgery is not performed in acutely ruptured AVMs because its therapeutic effects occur in a delayed fashion. PMID:26587641

  8. Endovascular treatment of posterior fossa arteriovenous malformations.

    PubMed

    Robert, T; Blanc, R; Ciccio, G; Gilboa, B; Fahed, R; Boissonnet, H; Redjem, H; Pistocchi, S; Bartolini, B; Piotin, M

    2016-03-01

    Infratentorial arteriovenous malformations (AVM) are rare, representing only 7-15% of cerebral AVM. The concentration of eloquent neurological structures and the high rate of bleeding presentation of AVM in this location complicate the management of such lesions. New therapeutic options, especially in endovascular therapy, have fundamentally modified the treatment strategy and also the outcome of posterior fossa AVM. Between 1999 and 2013, baseline, clinical and angiographic data of cerebral AVM were prospectively collected. We analyzed data from patients treated for a posterior fossa AVM, focusing on risk factors for bleeding, and clinical and angiographic outcomes. Sixty-nine patients (mean age 34years, male to female ratio 2:1) were consecutively treated for an infratentorial AVM. Fifty-seven presented with hemorrhage, six with focal neurologic deficits, and the remaining six patients were diagnosed incidentally. The Spetzler-Martin grade was <3 in 39 (56.5%) patients. Associated aneurysms were noted in 43.5% of patients. All patients were treated using endovascular procedures, associated with microsurgical resection in nine patients and with stereotactic radiosurgery in six. Mean follow-up was 28.5months, with angiographic exclusion of the AVM in 72.5% of patients; 21.7% of patients presented a modified Rankin Score ?3 at follow-up. Endovascular embolization seems to be a secure approach for posterior fossa AVM although a large number of sessions are necessary to achieve complete obliteration. Multi-disciplinary discussion and management is crucial to obtain the best cure rate without increasing procedural risks. PMID:26549679

  9. Metric Analysis of the Hard Palate in Children with Down Syndrome--A Comparative Study

    ERIC Educational Resources Information Center

    Bhagyalakshmi, Gopalan; Renukarya, Annappa Jai; Rajangam, Sayee

    2007-01-01

    The hard palate is viewed as playing an important role in the passive articulation of speech. Its probable role in the defective articulation of speech in individuals with Down syndrome has been examined in the present study. In individuals with Down syndrome, the hard palate is highly arched, constricted, and narrow and stair type with malformed…

  10. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  11. Anorectal Malformations Associated with Esophageal Atresia in Neonates

    PubMed Central

    Byun, Shin Yun; Lim, Ryoung Kyoung; Park, Kyung Hee; Kim, Hae Young

    2013-01-01

    Purpose Anorectal malformations are often associated with other anomalies, reporting frequency with 40-70%. Gastrointestinal anomalies have been known to be relatively less common than associated anomalies of other organ system. This study was performed to assess a distinctive feature of cases associated with esophageal atresia. Methods Clinical data (from January 2000 through December 2011) on the 196 subjects with anorectal malformations, managed in our Hospital, were reviewed. Total 14 neonates were identified with accompanying esophageal atresia and retrospective analysis was conducted. Results The incidence was 7.1% and there were 8 male and 6 female subjects. Only 2 cases were associated with esophageal atresia without tracheoesophageal fistula. Although variable cases of anorectal malformation in female subjects, almost cases were anorectal malformations with rectourethral fistula in male. Other associated anomalies were identified in all cases, with more than 3 anomalies in 10 cases. There were 4 VACTERL (Vertebral abnormalities, Anal atresia, Cardiac anomalies, Tracheoesophageal fistula, Esophageal atresia, Renal and Limb anomalies) associations accounting for 28.6%, but could not identify chromosomal anomaly. Most cases were managed with staged procedure, usually primary repair of esophageal atresia and diverting colostomy. Overall mortality rate was 21.4%, mainly caused by heart problems. Conclusion This study shows that early diagnosis and rational surgical approach with multidisciplinary plan are mandatory in managing anorectal malformations with esophageal atresia, when considering a high frequency of associated anomaly and a relative high mortality. PMID:24010103

  12. Sporadic Multifocal Venous Malformations of the Head and Neck

    PubMed Central

    Amato, Michael V.; Patel, Neha A.; Hu, Shirley; Pantelides, Harry

    2015-01-01

    Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management. Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient's buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass. Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy. PMID:26483982

  13. Gross congenital malformation at birth in a government hospital.

    PubMed

    Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

    2014-01-01

    A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management. PMID:24748359

  14. Defining anural malformations in the context of a developmental problem

    USGS Publications Warehouse

    Meteyer, C.U.; Cole, R.A.; Converse, K.A.; Docherty, D.E.; Wolcott, M.; Helgen, J.C.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

    2000-01-01

    This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

  15. Obstructive Sleep Apnea Pretreatment and Posttreatment in Symptomatic Children with Congenital Craniofacial Malformations

    PubMed Central

    Moraleda-Cibrián, Marta; Edwards, Sean P.; Kasten, Steven J.; Buchman, Steven R.; Berger, Mary; O'Brien, Louise M.

    2015-01-01

    Study Objectives: Obstructive sleep symptoms are common in children with craniofacial malformations (CFM). However objective data about obstructive sleep apnea (OSA) is still limited. The aims of this study were to investigate the frequency of OSA in symptomatic children with CFM and to determine improvement in severity of OSA after treatment. Methods: Symptomatic children with CFM referred for a diagnostic polysomnogram (PSG) were identified. Obstructive sleep apnea was defined as an apnea/hypopnea index (AHI) ? 1, with moderate/severe OSA as an AHI ? 5. Results: Overall, 151 symptomatic children were identified; 87% were diagnosed with OSA, of whom 24% had moderate-to-severe OSA. Children with syndromic CFM, compared to non-syndromic CFM, were more likely to have an AHI ? 5 (syndromic 33% vs. non-syndromic 15%, p = 0.02). Of the 131 children with OSA, 64 were treated and 32 returned for a posttreatment PSG, with 22 treated with either positive airway pressure (PAP) or adenotonsillectomy (AT). Children treated with PAP demonstrated a decrease in AHI from 6.2 to 3.5 (p = 0.057) and an increase in SpO2 from 89.1% to 91.1% (p = 0.091). There were no significant improvements for those in the AT group for either AHI (2.5 to 1.8, p = 0.19) or SpO2 (90.4% to 91.3%, p = 0.46). Normalization of the AHI (AHI < 1) occurred in only one child in each group (7% and 14% of the PAP and AT groups, respectively). Conclusions: The vast majority of children with CFM referred for OSA evaluation are found to have objective evidence of OSA and a quarter of children have moderate-to-severe OSA. It is likely that many children with underlying OSA are not identified and referred for evaluation. Residual OSA after treatment is common in children with CFM. Citation: Moraleda-Cibrián M, Edwards SP, Kasten SJ, Buchman SR, Berger M, O'Brien LM. Obstructive sleep apnea pre and posttreatment in symptomatic children with congenital craniofacial malformations. J Clin Sleep Med 2015;11(1):37–43. PMID:25515281

  16. Metabolic Syndrome

    MedlinePLUS

    ... How Can I Help a Friend Who Cuts? Metabolic Syndrome KidsHealth > For Teens > Metabolic Syndrome Print A A ... applies to a condition known as metabolic syndrome. Metabolic Syndrome Is an Early Warning Sign Metabolic syndrome isn' ...

  17. Isolated and syndromic brachydactylies: Diagnostic value of hand X-rays.

    PubMed

    David, A; Vincent, M; Quéré, M-P; Lefrançois, T; Frampas, E; David, A

    2015-05-01

    Brachydactyly, or shortening of the digits, is due to the abnormal development of phalanges, metacarpals and/or metatarsals. This congenital malformation is common, easily detectable clinically but often requires additional radiological exploration. Radiographs are essential to characterize the type of brachydactyly and to show the location of the bone shortening, as well as any associated malformation. This article reviews the radiological findings for isolated brachydactylies (according to the types classified by Bell, and Temtamy and McKusick) and for brachydactylies that are part of complex multisystem malformation syndromes. If warranted by the clinical and radiological examinations, a genetic analysis (molecular and/or cytogenetic) can confirm the etiologic diagnosis. PMID:25758756

  18. Genes and brain malformations associated with abnormal neuron positioning.

    PubMed

    Moffat, Jeffrey J; Ka, Minhan; Jung, Eui-Man; Kim, Woo-Yang

    2015-01-01

    Neuronal positioning is a fundamental process during brain development. Abnormalities in this process cause several types of brain malformations and are linked to neurodevelopmental disorders such as autism, intellectual disability, epilepsy, and schizophrenia. Little is known about the pathogenesis of developmental brain malformations associated with abnormal neuron positioning, which has hindered research into potential treatments. However, recent advances in neurogenetics provide clues to the pathogenesis of aberrant neuronal positioning by identifying causative genes. This may help us form a foundation upon which therapeutic tools can be developed. In this review, we first provide a brief overview of neural development and migration, as they relate to defects in neuronal positioning. We then discuss recent progress in identifying genes and brain malformations associated with aberrant neuronal positioning during human brain development. PMID:26541977

  19. Multiple vascular malformations in head and neck - Rare case report

    PubMed Central

    Lakkasetty, Yogesh T; Malik, Sangeeta; Shetty, Akshay; Nakhaei, Kourosh

    2014-01-01

    Multiple venous malformations (VMs) pose some of the most difficult challenges in the practice of medicine today. Clinical manifestations of these lesions are extremely protean. Because of the rarity of these lesions, experience in their diagnosis and management by most clinicians is limited. This augments the enormity of the problem and can lead to misdiagnoses, inadequate treatment, high complication rates and poor patient outcomes. Because these lesions can recur, removal of the nidus is the main priority. Vascular malformations are best treated in medical centers where patients with these maladies are seen regularly and the team approach is utilized. The presence of intralesional nerve in arteriovenous malformation (AVM) and sometimes in VMs, as reported in this study, provides an additional diagnostic criterion that is simple and reliable and can be readily used to differentiate VMs from hemangiomas. PMID:24959056

  20. Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol

    SciTech Connect

    Suh, Jin-Suck; Shin, Kyoo-Ho; Na, Jae-Bum; Won, Jong-Yun; Hahn, Soo-Bong

    1997-07-15

    Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.

  1. Echocardiographic screening in neonates undergoing surgery for selected gastrointestinal malformations.

    PubMed Central

    Tulloh, R M; Tansey, S P; Parashar, K; De Giovanni, J V; Wright, J G; Silove, E D

    1994-01-01

    To compare echocardiography with clinical examination, radiography, and electrocardiography for the detection of congenital heart defects (CHD) a four year prospective study was carried out in 166 neonates with selected congenital gastrointestinal malformations (anorectal anomaly, tracheo-oesophageal fistula, duodenal atresia, exomphalos, and gastroschisis). Routine examination and investigation detected CHD in 16 neonates. Using echocardiography CHD was diagnosed in 38 (23%) neonates of whom five had two gastrointestinal malformations: in 22/57 (39%) with a tracheo-oesophageal fistula, 10/67 (15%) with an anorectal anomaly, 4/20 (20%) with exomphalos, 6/20 (30%) with duodenal atresia, and 1/7 with gastroschisis. A significantly higher incidence of CHD in neonates with gastrointestinal malformations was diagnosed using echocardiography (23%) compared with routine examination and investigation (9%). Early diagnosis of CHD allowed a unified approach to be presented to the family. PMID:8198415

  2. Van der Woude Syndrome with Short Review of the Literature

    PubMed Central

    Deshmukh, Pallavi K.; Deshmukh, Kiran; Mangalgi, Anand; Patil, Subhash; Hugar, Deepa; Kodangal, Saraswathi Fakirappa

    2014-01-01

    Van der Woude syndrome (VWS) is a rare autosomal dominant condition with high penetrance and variable expression. Clinical manifestation of this autosomal dominant clefting syndrome includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. These congenital lip pits appear as a malformation in the vermilion border of the lip, with or without excretion. Discomfort caused by spontaneous or induced drainage of saliva/mucus when pressure is applied or during a meal as well as poor aesthetic match is one of the main complaints of patients with congenital lip fistula. The pits are treated by surgical resection. Dentists should be aware of the congenital lip pits as in Van der Woude syndrome because they have been reported to be associated with a variety of malformations or other congenital disorders. Here, the authors report a rare case of Van der Woude syndrome with short review of the literature. PMID:25050184

  3. Diagnosis and Treatment of Venous Malformations. Consensus Document of the International Union of Phlebology (IUP): updated 2013.

    PubMed

    Lee, B B; Baumgartner, I; Berlien, P; Bianchini, G; Burrows, P; Gloviczki, P; Huang, Y; Laredo, J; Loose, D A; Markovic, J; Mattassi, R; Parsi, K; Rabe, E; Rosenblatt, M; Shortell, C; Stillo, F; Vaghi, M; Villavicencio, L; Zamboni, P

    2015-04-01

    Venous malformations (VMs) are the most common vascular developmental anomalies (birth defects) . These defects are caused by developmental arrest of the venous system during various stages of embryogenesis. VMs remain a difficult diagnostic and therapeutic challenge due to the wide range of clinical presentations, unpredictable clinical course, erratic response to the treatment with high recurrence/ persistence rates, high morbidity following non-specific conventional treatment, and confusing terminology. The Consensus Panel reviewed the recent scientific literature up to the year 2013 to update a previous IUP Consensus (2009) on the same subject. ISSVA Classification with special merits for the differentiation between the congenital vascular malformation (CVM) and vascular tumors was reinforced with an additional review on syndrome-based classification. A "modified" Hamburg classification was adopted to emphasize the importance of extratruncular vs. truncular sub-types of VMs. This incorporated the embryological ongm, morphological differences, unique characteristics, prognosis and recurrence rates of VMs based on this embryological classification. The definition and classification of VMs were strengthened with the addition of angiographic data that determines the hemodynamic characteristics, the anatomical pattern of draining veins and hence the risk of complication following sclerotherapy. The hemolymphatic malformations, a combined condition incorporating LMs and other CVMs, were illustrated as a separate topic to differentiate from isolated VMs and to rectify the existing confusion with name-based eponyms such as Klippei-Trenaunay syndrome. Contemporary concepts on VMs were updated with new data including genetic findings linked to the etiology of CVMs and chronic cerebrospinal venous insufficiency. Besides, newly established information on coagulopathy including the role of D-Dimer was thoroughly reviewed to provide guidelines on investigations and anticoagulation therapy in the management of VMs. Congenital vascular bone syndrome resulting in angio-osteo-hyper/hypotrophy and (lateral) marginal vein was separately reviewed. Background data on arterio-venous malformations was included to differentiate this anomaly from syndromebased VMs. For the treatment, a new section on laser therapy and also a practical guideline for follow up assessment were added to strengthen the management principle of the multidisciplinary approach. All other therapeutic modalities were thoroughly updated to accommodate a changing concept through the years. PMID:24566499

  4. Models of cortical malformation-Chemical and physical.

    PubMed

    Luhmann, Heiko J

    2016-02-15

    Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans. PMID:25850077

  5. Microcephaly, Intellectual Impairment, Bilateral Vesicoureteral Reflux, Distichiasis and Glomuvenous Malformations Associated with a 16q24.3 Contiguous Gene Deletion and a Glomulin Mutation

    PubMed Central

    Butler, Matthew G.; Dagenais, Susan L.; Garcia-Perez, José L.; Brouillard, Pascal; Vikkula, Miikka; Strouse, Peter; Innis, Jeffrey W.; Glover, Thomas W.

    2012-01-01

    Two hereditary syndromes, lymphedema-distichiasis syndrome (LD) and blepharo-chelio-dontic (BCD) syndrome include the aberrant growth of eyelashes from the meibomian glands, known as distichiasis. LD is an autosomal dominant syndrome primarily characterized by distichiasis and the onset of lymphedema usually during puberty. Mutations in the forkhead transcription factor FOXC2 are the only known cause of LD. BCD syndrome consists of autosomal dominant abnormalities of the eyelid, lip, and teeth, and the etiology remains unknown. In this report, we describe a proband that presented with distichiasis, microcephaly, bilateral grade IV vesicoureteral reflux requiring ureteral re-implantation, mild intellectual impairment and apparent glomuvenous malformations. Distichiasis was present in three generations of the proband’s maternal side of the family. The glomuvenous malformations were severe in the proband, and maternal family members exhibited lower extremity varicosities of variable degree. A GLMN (glomulin) gene mutation was identified in the proband that accounts for the observed glomuvenous malformations; no other family member could be tested. TIE2 sequencing revealed no mutations. In the proband, an additional submicroscopic 265 kb contiguous gene deletion was identified in 16q24.3, located 609 kb distal to the FOXC2 locus, which was inherited from the proband’s mother. The deletion includes the C16ORF95, FBXO31, MAP1LC3B, and ZCCHC14 loci and 115 kb of a gene desert distal to FOXC2 and FOXL1. Thus, it is likely that the microcephaly, distichiasis, vesicoureteral and intellectual impairment in this family may be caused by the deletion of one or more of these genes and/or deletion of distant cis-regulatory elements of FOXC2 expression. PMID:22407726

  6. Marfan syndrome: An eyesight of syndrome.

    PubMed

    Kumar, Ashok; Agarwal, Sarita

    2014-12-01

    Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1). Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of MFS. The revised Ghent diagnostics nosology of Marfan syndrome is established in accordance with a combination of major and minor clinical manifestations in various organ systems and the family history. The pathogenesis of Marfan syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. The treatment includes prophylactic ?-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta and prophylactic aortic surgery. Importantly, ?-blocker therapy may reduce TGF-? activation, which has been recognized as a contributory factor in MFS. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening. The present article aims to provide an overview of this rare hereditary disorder. PMID:25606393

  7. Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis.

    PubMed

    Sarici, Dilek; Akin, Mustafa Ali; Kara, Ahu; Doganay, Selim; Kurtoglu, Selim

    2012-03-01

    Seckel syndrome is a rare autosomal recessive disorder, and its characteristic features include prenatal and postnatal growth retardation, microcephaly, and "bird-like" face with prominent, beak-like nose and micrognathia. Additional abnormalities were described in the cardiovascular, hematopoietic, endocrine, and central nervous systems. We present the magnetic resonance imaging findings of a neonate with Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Major brain malformations may be associated with Seckel syndrome. Imaging studies should be performed to determine any central nervous system abnormalities. Considering the basic defect of neuroblast proliferation in Seckel syndrome, neuronal migration disorders should be sought in these patients. PMID:22353298

  8. Syndrome de blépharophimosis: une forme particulière du ptosis congénital

    PubMed Central

    Handor, Hanan; Hafidi, Zouheir; Laghmari, Mina; Sabrane, Ihsane; Mastanga, Olive Rosine; Daoudi, Rajae

    2015-01-01

    Le syndrome de blépharophimosis est une malformation palpébrale congénitale caractérisée par l'association d'un ptosis majeur bilatéral à d'autres anomalies palpébrales. Il constitue une forme particulière du ptosis congénital qui doit être connue par tout ophtalmologue afin d'optimiser la prise en charge des patients présentant cette affection. PMID:26161205

  9. A Review of Vascular Anomalies: Genetics and Common Syndromes

    PubMed Central

    Killion, Elizabeth; Mohan, Kriti; Lee, Edward I.

    2014-01-01

    Vascular tumors and malformations are unique in that affected cells exhibit disrupted angiogenesis. The current treatment options often yield suboptimal results. New insight into the genetics and molecular basis of vascular anomalies may pave the way for potential development of targeted therapy. The authors review the genetic and molecular basis of vascular anomalies and common associated syndromes. PMID:25045331

  10. Possible homozygous Waardenburg syndrome in a fetus with exencephaly

    SciTech Connect

    1995-11-06

    This paper describes a pedigree with Waardenburg syndrome and an aborted fetus who had severe congenital malformations but no detected genetic mutations. The authors concluded that despite the fact that no homozygosity of the fetus was demonstrated, the phenotype pointed to homozygous mutations of the PAX3 gene. 17 refs., 4 figs.

  11. Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome.

    PubMed

    Quélin, Chloé; Loget, Philippe; Verloes, Alain; Bazin, Anne; Bessières, Bettina; Laquerrière, Annie; Patrier, Sophie; Grigorescu, Romulus; Encha-Razavi, Ferechté; Delahaye, Sophie; Jouannic, Jean-Marie; Carbonne, Bruno; D'Hervé, Dominique; Aubry, Marie-Cécile; Macé, Guillaume; Harvey, Thierry; Ville, Yves; Viot, Geraldine; Joyé, Nicole; Odent, Sylvie; Attié-Bitach, Tania; Wolf, Claude; Chevy, Françoise; Benlian, Pascale; Gonzales, Marie

    2012-02-01

    The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency. The diagnosis is confirmed by high 7- and secondarily 8-dehydrocholesterol levels in plasma and tissues and/or by detection of biallelic mutations in the DHCR7 gene. The phenotypic spectrum of SLOS is broad, ranging from a mild phenotype combining subtle physical anomalies with behavioral and learning problems, to a perinatally lethal multiple malformations syndrome. The fetal phenotype of SLOS has been poorly described in the literature. We report a series of 10 fetuses with molecularly proven SLOS. Even in young fetuses, the facial dysmorphism appears characteristic. Genital abnormalities are rare in 46,XX subjects. Gonadal differentiation appears histologically normal and in agreement with the chromosomal sex, contrary to what has been previously stated. We observed some previously unreported anomalies: ulnar hypoplasia, vertebral segmentation anomalies, congenital pulmonary adenomatoid malformation, fused lungs, gastroschisis, holomyelia and hypothalamic hamartoma. This latter malformation proves that SLOS phenotypically overlaps with Pallister-Hall syndrome which remains clinically a major differential diagnosis of SLOS. PMID:22226660

  12. Regression of a Large Congenital Hepatic Arteriovenous Malformation

    PubMed Central

    Zakaria, Rania; Mostafa, Fatma Alzahraa; Hamza, Hala

    2015-01-01

    Congenital hepatic arteriovenous malformations are rarely seen in association with persistent neonatal pulmonary hypertension. We report the case of a full-term female newborn who presented with heart failure and respiratory distress soon after birth. Echocardiographic investigation revealed severe persistent pulmonary hypertension and patent ductus arteriosus. Here we report spontaneous regression in size of both the feeder vessel and the vascular bed of the congenital hepatic arteriovenous malformation. We postulate that our conservative use of oral heart failure therapy, in the form of diuretic agents and captopril, decreased the congestion and diameter of the affected vessels. PMID:25873838

  13. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  14. Arteriovenous malformation within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma

    PubMed Central

    Lai, Grace; Muller, Karra A.; Carter, Bob S.; Chen, Clark C.

    2015-01-01

    Background: The co-occurrence of intracranial arteriovenous malformations (AVMs) and cerebral neoplasms is exceedingly rare but may harbor implications pertaining to the molecular medicine of brain cancer pathogenesis. Case Description: Here, we present a case of de novo AVM within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma (WHO Grade III) and review the potential contribution of this mutation to aberrant angiogenesis as an interesting case study in molecular medicine. Conclusion: The co-occurrence of an IDH1 mutated neoplasm and AVM supports the hypothesis that IDH1 mutations may contribute to aberrant angiogenesis and vascular malformation. PMID:26167373

  15. Balloon-Occluded Retrograde Transvenous Embolization of a Pelvic Arteriovenous Malformation

    SciTech Connect

    Mitsuzaki, Katsuhiko; Yamashita, Yasuyuki; Utsunomiya, Daisuke; Sumi, Seiya; Ogata, Ichiro; Takahashi, Mutsumasa; Kawakami, Shigeo; Ueda, Shohichi

    1999-11-15

    We successfully performed embolization therapy for a pelvic arteriovenous malformation by the retrograde transvenous approach using a liquid embolic material. This malformation was unique in that it had a single draining vein, which allowed this technique employing an occlusion balloon.

  16. ASSESSMENT OF ENVIRONMENTAL STRESSORS POTENTIALLY RESPONSIBLE FOR MALFORMATIONS IN NORTH AMERICAN ANURAN AMPHIBIANS

    EPA Science Inventory

    A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...

  17. Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension

    PubMed Central

    2014-01-01

    The 4q deletion syndrome shows a broad spectrum of clinical manifestations consisting of key features comprising growth failure, developmental delay, craniofacial dysmorphism, digital anomalies, and cardiac and skeletal defects. We have identified a de novo interstitial distal deletion in a 9 month-old girl with growth failure, developmental delay, ventricular septum defect in the subaortic region, patent foramen ovale and patent ductus arteriosus, vascular malformation of the lung, dysgenesis of the corpus callosum and craniofacial dysmorphism using array-comparative genomic hybridization. This de novo deletion is located at 4q28.3-31.23 (136,127,048 - 150,690,325), its size is 14.56 Mb, and contains 8 relevant genes (PCDH18, SETD7, ELMOD2, IL15, GAB1, HHIP, SMAD1, NR3C2) with possible contributions to the phenotype. Among other functions, a role in lung morphogenesis and tubulogenesis can be attributed to the deleted genes in our patient, which may explain the unique feature of vascular malformation of the lung leading to pulmonary hypertension. With the detailed molecular characterization of our case with 4q- syndrome we hope to contribute to the elucidation of the genetic spectrum of this disorder. PMID:24959202

  18. Gershoni-Baruch syndrome: First report of a surviving child.

    PubMed

    Valfrè, Laura; Baban, Anwar; Digilio, Maria Cristina; Bevilacqua, Francesca; Bagolan, Pietro; Conforti, Andrea

    2016-03-01

    Gershoni-Baruch syndrome is an extremely rare malformation complex characterized by omphalocele, diaphragmatic hernia, radial ray defects, and cardiovascular abnormalities. Autosomal recessive inheritance was suggested. To date, academic literature described only seven patients fulfilling the diagnostic criteria for the condition. None survived the neonatal period. This study reports the first individual with Gershoni-Baruch syndrome surviving past early infancy. © 2015 Wiley Periodicals, Inc. PMID:26639892

  19. Dyke-Davidoff-Masson Syndrome

    PubMed Central

    Zawar, Ifrah; Khan, Ashfa A.; Sultan, Tipu; Rathore, Ahsan W.

    2015-01-01

    The Dyke-Davidoff-Masson Syndrome (DDMS) results from an insult to the growing brain in utero or early infancy, which lead to loss of neurons compromising the growth of the brain. Clinical presentation includes seizures, hemiparesis, facial asymmetry, and learning disability. Radiological findings include cerebral atrophy on one side. Here, we present a case with status epilepticus who had underlying DDMS. It is a rare syndrome and uncommon cause for status epilepticus. Infections of CNS, hypoxic ischemic encephalopathy, intracranial bleed, trauma, congenital vascular malformations are the common causes of this syndrome. Diagnosis is established after clinical history, examination, and MRI. Intractable seizures can be controlled with appropriate anticonvulsants. Subsequently, these children may require physiotherapy, speech therapy, and occupational therapy in addition to the anticonvulsant medication. Outcome is better if the seizures are controlled. PMID:26492121

  20. Recognition of caudal regression syndrome.

    PubMed

    Boulas, Mari M

    2009-04-01

    Caudal regression syndrome, also referred to as caudal dysplasia and sacral agenesis syndrome, is a rare congenital malformation characterized by varying degrees of developmental failure early in gestation. It involves the lower extremities, the lumbar and coccygeal vertebrae, and corresponding segments of the spinal cord. This is a rare disorder, and true pathogenesis is unclear. The etiology is thought to be related to maternal diabetes, genetic predisposition, and vascular hypoperfusion, but no true causative factor has been determined. Fetal diagnostic tools allow for early recognition of the syndrome, and careful examination of the newborn is essential to determine the extent of the disorder. Associated organ system dysfunction depends on the severity of the disease. Related defects are structural, and systematic problems including respiratory, cardiac, gastrointestinal, urinary, orthopedic, and neurologic can be present in varying degrees of severity and in different combinations. A multidisciplinary approach to management is crucial. Because the primary pathology is irreversible, treatment is only supportive. PMID:19363325

  1. Congenital nephrotic syndrome.

    PubMed

    Hamed, Radi Ma

    2003-01-01

    The congenital nephrotic syndrome (CNS) is an uncommon disorder with onset of the nephrotic syndrome usually in the first three months of life. Several different diseases may cause the syndrome. These may be inherited, sporadic, acquired or part of a general malformation syndrome. The clinical course is marked by failure to thrive, recurrent life threatening bacterial infections, and early death from sepsis and/or uremia. A characteristic phenotype may be seen in children with CNS. The majority of reported cases of CNS are of the Finnish type (CNF). Although the role of the glomerular basement membrane has been emphasized as the barrier for retaining plasma proteins, recent studies have clearly shown that the slit diaphragm is the structure most likely to be the barrier in the glomerular capillary wall. The gene (NPHS1) was shown to encode a novel protein that was termed nephrin, due to its specific location in the kidney filter barrier, where it seems to form a highly organized filter structure. Nephrin is a transmembrane protein that probably forms the main building block of an isoporous zipper-like slit diaphragm filter structure. Defects in nephrin lead to the abnormal or absent slit diaphragm resulting in massive proteinuria and renal failure. PMID:17657104

  2. Malignancy in Noonan syndrome and related disorders.

    PubMed

    Smpokou, P; Zand, D J; Rosenbaum, K N; Summar, M L

    2015-12-01

    Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, and Costello syndrome, constitute an important group of developmental malformation syndromes with variable clinical and molecular features. Their underlying pathophysiologic mechanism involves dysregulation of the Ras/mitogen-activated protein kinase signaling pathway, an essential mediator of developmental and growth processes in the prenatal and postnatal setting. Malignant tumor development is an important complication encountered in other RASopathies, such as neurofibromatosis type 1, but the neoplastic risks and incidence of malignant tumors are less clearly defined in NS and related disorders of the Noonan spectrum. Malignant tumor development remains an important complication variably seen in the RASopathies and, thus, a clear understanding of the underlying risks is essential for appropriate clinical care in this patient population. This review discusses previously published reports of malignancies in individuals with RASopathies of the Noonan spectrum. PMID:25683281

  3. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases.

    PubMed

    Min, Hong-Gi; Kim, Su-Gwan; Oh, Ji-Su; You, Jae-Seek

    2015-12-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  4. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases

    PubMed Central

    2015-01-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  5. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    ERIC Educational Resources Information Center

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  6. Mimosa tenuiflora as a Cause of Malformations in Ruminants in the Northeastern Brazilian Semiarid Rangelands

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to gr...

  7. Proteus syndrome: A rare case report

    PubMed Central

    Talari, Keerthi; Subbanna, Praveen Kumar Arinaganhalli; Amalnath, Deepak; Suri, Subrahmanyam Dharanitragada Krishna

    2012-01-01

    Proteus syndrome (PS) is a rare hamartomatous disorder characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Partial gigantism with limb or digital overgrowth is pathognomonic of PS. We report a rare case of PS in a 50-year-old man who presented with inferior wall myocardial infarction and was incidentally detected to have hypertrophy of index and middle fingers of both the hands. PMID:23716948

  8. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

    PubMed

    Hoischen, Alexander; van Bon, Bregje W M; Rodríguez-Santiago, Benjamín; Gilissen, Christian; Vissers, Lisenka E L M; de Vries, Petra; Janssen, Irene; van Lier, Bart; Hastings, Rob; Smithson, Sarah F; Newbury-Ecob, Ruth; Kjaergaard, Susanne; Goodship, Judith; McGowan, Ruth; Bartholdi, Deborah; Rauch, Anita; Peippo, Maarit; Cobben, Jan M; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Veltman, Joris A; Brunner, Han G; de Vries, Bert B B A

    2011-08-01

    Bohring-Opitz syndrome is characterized by severe intellectual disability, distinctive facial features and multiple congenital malformations. We sequenced the exomes of three individuals with Bohring-Opitz syndrome and in each identified heterozygous de novo nonsense mutations in ASXL1, which is required for maintenance of both activation and silencing of Hox genes. In total, 7 out of 13 subjects with a Bohring-Opitz phenotype had de novo ASXL1 mutations, suggesting that the syndrome is genetically heterogeneous. PMID:21706002

  9. Syndromes with focal overgrowth in infancy: diagnostic approach and surgical treatment.

    PubMed

    Mirastschijski, Ursula; Altmann, Silke; Lenz-Scharf, Olivia; Muschke, Petra; Schneider, Wolfgang

    2012-02-01

    Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. Correct classification facilitates diagnosis and operations. Interdisciplinary treatment and follow-up are recommended to prevent disfiguration. PMID:21446802

  10. Syndromes with focal overgrowth in infancy: Diagnostic approach and surgical treatment.

    PubMed

    Mirastschijski, Ursula; Altmann, Silke; Lenz-Scharf, Olivia; Muschke, Petra; Schneider, Wolfgang

    2010-02-17

    Abstract Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. Correct classification facilitates diagnosis and operations. Interdisciplinary treatment and follow-up are recommended to prevent disfiguration. PMID:19634071

  11. A second locus for Rieger syndrome maps to chromosome 13q14.

    PubMed Central

    Phillips, J. C.; del Bono, E. A.; Haines, J. L.; Pralea, A. M.; Cohen, J. S.; Greff, L. J.; Wiggs, J. L.

    1996-01-01

    Rieger syndrome is a genetically and phenotypically heterogeneous disorder typically characterized by malformations of the eyes, teeth, and umbilicus. The syndrome is inherited as an autosomal dominant trait and exhibits significant variable expressivity. One locus associated with this disorder has been mapped to 4q25. Using a large four-generation pedigree, we have identified a second locus for Rieger syndrome located on chromosome 13q14. PMID:8751862

  12. Surgical and Technical Modalities for Hearing Restoration in Ear Malformations.

    PubMed

    Dazert, Stefan; Thomas, Jan Peter; Volkenstein, Stefan

    2015-12-01

    Malformations of the external and middle ear often go along with an aesthetic and functional handicap. Independent of additional aesthetic procedures, a successful functional hearing restoration leads to a tremendous gain in quality of life for affected patients. The introduction of implantable hearing systems (bone conduction and middle ear devices) offers new therapeutic options in this field. We focus on functional rehabilitation of patients with malformations, either by surgical reconstruction or the use of different implantable hearing devices, depending on the disease itself and the severity of malformation as well as hearing impairment. Patients with an open ear canal and minor malformations are good candidates for surgical hearing restoration of middle ear structures with passive titanium or autologous implants. In cases with complete fibrous or bony atresia of the ear canal, the most promising functional outcome and gain in quality of life can be expected with an active middle ear implant or a bone conduction device combined with a surgical aesthetic rehabilitation in a single or multi-step procedure. Although the surgical procedure for bone conduction devices is straightforward and safe, more sophisticated operations for active middle ear implants (e.g., Vibrant Soundbridge, MED-EL, Innsbruck, Austria) provide an improved speech discrimination in noise and the ability of sound localization compared with bone conduction devices where the stimulation reaches both cochleae. PMID:26667632

  13. Appendicitis Presenting Concurrently with Cecal Arteriovenous Malformation in a Child

    PubMed Central

    Rosenberg, Eric; Portalatin, Manuel E; Fakhoury, Elias; Madlinger, Robert V

    2015-01-01

    Acute appendicitis is a commonly diagnosed surgical problem in the pediatric population. Arterio-venous malformations (AVM) of the colonic tract are rarely reported in the pediatric literature. A 13-year old boy who presented with acute appendicitis with concurrent cecal AVM is reported in whom appendectomy was done. Later on radiological investigations AVM was confirmed. PMID:26623251

  14. Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.

    PubMed

    Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F

    2014-04-01

    Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23543731

  15. Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon.

    PubMed

    Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F

    2013-01-01

    Purely extradural lumbar spinal arteriovenous malformations (AVMs) are rare lesions that have diverse presentations and imaging features. The treatment of a symptomatic high flow paraspinal AVM with multiple feeders remains a challenge. We report the first use of an Ascent balloon (dual lumen balloon catheter) to deliver Onyx with excellent penetration to a paraspinal AVM. PMID:23524491

  16. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

  17. LIMITED PCB ANTAGONISM OF TCDD-INDUCED MALFORMATIONS IN MICE

    EPA Science Inventory

    C57BL/6N mice, used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day (gd) 9 with ,2',4,4',5,5'-hexachloro-biphenyl (HCB) (62.5, 125, 250, 500. 1000 mg/kg) and/or gd 10 with 2,3,7,8-tetrach...

  18. Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review

    ERIC Educational Resources Information Center

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-01-01

    Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature…

  19. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

  20. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

    Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J.

    2007-11-15

    Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.

  1. Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases

    PubMed Central

    Kroes, I.; Janssens, S.; Defoort, P.

    2014-01-01

    Objective: To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18. Materials and Methods: In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18. We evaluated the predominant signs leading to referral, the difference and overlap in presenting signs between both syndromes and when the data were available, we also compared the echographic signs with the foetal pathology. Results: In foetuses with trisomy 13 the most common malformations were craniofacial defects, cerebral malformations and genitourinary tract anomalies. The most common malformations associated with trisomy 18 were limb abnormalities and intrauterine growth restriction. Most malformations were predominant in trisomy 18, except for genitourinary tract anomalies. In most cases the sonographic signs correlated with the pathology findings. Conclusion: Trisomy 13 as well as trisomy 18 are characterized by a number of various malformations in the foetus. Most of the ultrasound features were predominant in foetuses with trisomy 18. Mostly the foetal pathology correlated with the sonographic evaluation. PMID:25593701

  2. Smith-Lemli-Opitz Syndrome

    PubMed Central

    DeBarber, Andrea E.; Eroglu, Yasemen; Merkens, Louise S.; Pappu, Anuradha S.; Steiner, Robert D.

    2012-01-01

    Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformation/intellectual disability syndrome, with clinical characteristics encompassing a wide spectrum and great variability. Elucidation of the biochemical and molecular genetic basis for the autosomal recessively inherited SLOS, specifically, understanding SLOS as a cholesterol deficiency syndrome caused by mutations in DHCR7, opened up enormous possibilities for therapeutic intervention. When cholesterol was discovered to be the activator of sonic hedgehog, cholesterol deficiency with inactivation of this developmental patterning gene was thought to be the cause of SLOS malformations, yet this explanation is overly simplistic. Still, despite these important research breakthroughs, there is no proven treatment for SLOS. Better animal models are needed to allow potential treatment testing and the study of disease pathophysiology, which is incompletely understood. Creation of human cellular models will surely be useful, especially models of brain cells. In vivo human studies are essential as well. There have only been limited natural history studies of SLOS to date. Biomarker development will be critical in facilitating clinical trials in this rare condition, since clinical phenotype may change over many years. Additional research in these and other areas is critical if we are to make headway towards ameloriating the effects of this devastating condition. PMID:21777499

  3. Updates and Future Horizons on the Understanding, Diagnosis, and Treatment of Sturge-Weber Syndrome Brain Involvement

    ERIC Educational Resources Information Center

    Lo, Warren; Marchuk, Douglas A.; Ball, Karen L.; Juhasz, Csaba; Jordan, Lori C.; Ewen, Joshua B.; Comi, Anne

    2012-01-01

    Aim: To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS). Method: Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research. Results: The increasing number…

  4. Complex spinal-paraspinal fast-flow lesions in CLOVES syndrome: analysis of clinical and imaging findings in 6 patients.

    PubMed

    Alomari, A I; Chaudry, G; Rodesch, G; Burrows, P E; Mulliken, J B; Smith, E R; Fishman, S J; Orbach, D B

    2011-01-01

    CLOVES syndrome is a complex disorder of congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis/spinal anomalies. We report the occurrence of spinal-paraspinal fast-flow lesions within or adjacent to the truncal overgrowth or a cutaneous birthmark in 6 patients with CLOVES syndrome. PMID:21310861

  5. Updates and Future Horizons on the Understanding, Diagnosis, and Treatment of Sturge-Weber Syndrome Brain Involvement

    ERIC Educational Resources Information Center

    Lo, Warren; Marchuk, Douglas A.; Ball, Karen L.; Juhasz, Csaba; Jordan, Lori C.; Ewen, Joshua B.; Comi, Anne

    2012-01-01

    Aim: To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS). Method: Members of the Brain Vascular Malformation Consortium Sturge-Weber Syndrome National Workgroup contributed their expertise to review the literature and present promising directions for research. Results: The increasing number…

  6. Type and frequency of cardiac defects in embryofetal alcohol syndrome. Report of 16 cases.

    PubMed Central

    Löser, H; Majewski, F

    1977-01-01

    Within a period of 3 years, 56 infants and children with embryofetal alcohol syndrome have been detected and examined for heart defects. All children were from mothers who had been addicted to alcohol even during pregnancy and they showed a typical pattern of malformations, as described by Lemoine et al. (1968) and Jones et al. (1973). In 16 cases cardiovascular malformations were confirmed by heart catheterisation or pathological examination. The overall incidence of heart defects in this syndrome was 29 per cent. The incidence rises to nearly 50 per cent in the more severe types of this syndrome. Atrial septal defects were found to be the most common heart defect (10 out of 16 cases); ventricular septal defects and other variable malformations occurred less frequently. The high incidence of heart defects indicates that alcoholism during pregnancy has to be considered as a serious and preventable cause of congenital heart disease. Images PMID:603740

  7. Unilateral cerebellar hypoplasia and mesencephalic malformation in a Hanoverian foal.

    PubMed

    Schröder, S; Schmidt, M J; Preis, S; Klumpp, S; Köhler, K; Kuchelmeister, K; Herden, C

    2013-01-01

    Neurological cases, especially in foals, are rare in the daily practical work. The most common causes are traumata and infectious diseases of the central nervous system (CNS). This case report provides further insights into the wide spectrum of possible neuropathological lesions by detailing a complex malformation with unilateral neurological signs that occurred later post natum. Thus, clinicians should also be aware of malformations in case of respective neurological patients. A Hanoverian foal was presented with progressive ataxia. General and blood examination revealed no further alterations. By neurologic examination, a unilateral hypermetria was diagnosed and a cysternography of the head was performed. A cerebellar malformation was assumed and the foal was euthanized due to poor prognosis. At necropsy, a unilateral absence of a cerebellar hemisphere and vermis accompanied by contralateral malformation of the mesencephalon was diagnosed. The missing areas of the right cerebellar hemisphere were replaced by a cystic formation. The left part of the mesencephalic lamina quadrigemina was reduced in size and the corpus callosum was hypoplastic. Additional microscopical findings were most obvious near the cyst formation and included angiofibrosis in remaining cerebellar and mesencephalic parenchyma and leptomeninges, heterotopia of cerebellar neurons, sclerosis in cerebellar cortex, focal proliferation of meningeal cells and mild mononuclear perivascular infiltrates. Occassional irregular neuronal arrangement in the mesencephalon was also present. Infectious agents such as Borna disease virus, rabies virus, and equine herpesvirus were not detected. Therefore, the complex malformation in this foal might have been caused by a destructive, possibly ischemic event, or could represent a sequel of a primary retrocerebellar cyst with accompanying compression of adjacent parenchyma. PMID:23608891

  8. Stereotactic radiosurgery for deep intracranial arteriovenous malformations, part 2: Basal ganglia and thalamus arteriovenous malformations.

    PubMed

    Cohen-Inbar, Or; Ding, Dale; Sheehan, Jason P

    2016-02-01

    The aim of this review is to critically analyze the outcomes following stereotactic radiosurgery (SRS) for arteriovenous malformations (AVM) of the basal ganglia and thalamus. The management of these deep-seated lesions continues to challenge neurosurgeons. Basal ganglia and thalamic AVM show a higher risk of hemorrhage, and an associated devastating morbidity and mortality, as compared to AVM in more superficial locations. Any of the currently available treatment modalities may fail or result in iatrogenic neurologic deterioration. Recent evidence from A Randomized Trial of Unruptured Brain AVM (ARUBA) further deters aggressive approaches that carry a significant risk of treatment-related adverse events. Microsurgical resection, endovascular embolization and SRS all play a role in the treatment of AVM. SRS is an effective therapeutic option for AVM of the thalamus and basal ganglia that are deemed high risk for resection. SRS offers acceptable obliteration rates, with generally lower risks of hemorrhage occurring during the latency period compared to the AVM natural history. Considering that incompletely obliterated lesions still harbor the potential for rupture, additional treatments such as repeat SRS and microsurgical resection should be considered when complete obliteration is not achieved by an initial SRS procedure. Patients with AVM of the basal ganglia and thalamus require continued clinical and radiologic observation and follow-up after SRS, even after angiographic obliteration has been confirmed. PMID:26732284

  9. Stereotactic radiosurgery for deep intracranial arteriovenous malformations, part 1: Brainstem arteriovenous malformations.

    PubMed

    Cohen-Inbar, Or; Ding, Dale; Chen, Ching-Jen; Sheehan, Jason P

    2016-02-01

    The management of brainstem arteriovenous malformations (AVM) are one of the greatest challenges encountered by neurosurgeons. Brainstem AVM have a higher risk of hemorrhage compared to AVM in other locations, and rupture of these lesions commonly results in devastating neurological morbidity and mortality. The potential morbidity associated with currently available treatment modalities further compounds the complexity of decision making for affected patients. Stereotactic radiosurgery (SRS) has an important role in the management of brainstem AVM. SRS offers acceptable obliteration rates with lower risks of hemorrhage occurring during the latency period. Complex nidal architecture requires a multi-disciplinary treatment approach. Nidi partly involving subpial/epipial regions of the dorsal midbrain or cerebellopontine angle should be considered for a combination of endovascular embolization, micro-surgical resection and SRS. Considering the fact that incompletely obliterated lesions (even when reduced in size) could still cause lethal hemorrhages, additional treatment, including repeat SRS and surgical resection should be considered when complete obliteration is not achieved by first SRS. Patients with brainstem AVM require continued clinical and radiological observation and follow-up after SRS, well after angiographic obliteration has been confirmed. PMID:26740034

  10. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    SciTech Connect

    Lv, Ming-ming; Fan, Xin-dong; Su, Li-xin

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  11. Congenital pulmonary malformations in pediatric patients: review and update on etiology, classification, and imaging findings.

    PubMed

    Lee, Edward Y; Dorkin, Henry; Vargas, Sara O

    2011-09-01

    Congenital pulmonary malformations represent a heterogeneous group of developmental disorders affecting the lung parenchyma, the arterial supply to the lung, and the lung's venous drainage. In both asymptomatic and symptomatic pediatric patients with congenital pulmonary malformations, the diagnosis of such malformations usually requires imaging evaluation, particularly in cases of surgical lesions for preoperative assessment. The goal of this article is to review the current imaging techniques for evaluating congenital pulmonary malformations and their characteristic imaging findings, which can allow differentiation among various congenital pulmonary malformations in pediatric patients. PMID:21889015

  12. cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations

    PubMed Central

    VanderMeer, Julia E.; Ahituv, Nadav

    2011-01-01

    The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

  13. Klippel-Trenaunay syndrome complicating pregnancy

    PubMed Central

    González-Mesa, Ernesto; Blasco, Marta; Andérica, José; Herrera, José

    2012-01-01

    The Klippel-Trenaunay syndrome is a rare congenital disorder that affects one or more limbs. It is characterised by cutaneous vascular nevi, venous malformations and hypertrophy of soft tissues and bone. There are very few cases reported in pregnant women, so the level of uncertainty is high when it appears during gestation. It is a disease that increases obstetric risk and can exacerbate complications, mainly thromboembolic and haemorrhagic. We report below the case of a pregnant woman diagnosed with this syndrome and the multidisciplinary management held in our centre. PMID:22854239

  14. A rare case of the lenz syndrome.

    PubMed

    T, Sohil; K, Ketki; M S, Rukmini; K, Nutan; M, Poornima

    2013-02-01

    We are reporting here, a case of the Lenz syndrome in a neonate who was brought to the Paediatric OPD, Kasturba Medical College Hospital, Attavar, Mangalore India, with the complaints of poor suckling since birth and abnormal facial features. Altogether, the characteristic congenital abnormal findings in Lenz syndrome, which comprise of microophthalmia, ear anomalies, microcephaly, skeletal and digital deformities, and urogenital malformations were observed, with an exception of a dental anomaly. Dental abnormalities were not pertinent, as the patient was a neonate. PMID:23543842

  15. Tumors in Rubinstein-Taybi syndrome

    SciTech Connect

    Miller, R.W.; Rubinstein, J.H.

    1995-03-13

    The 14 tumors reported in Rubinstein-Taybi syndrome since 1989, when added to the 22 previously reported, are beginning to show a pattern of neural and developmental tumors, especially of the head, which is malformed in the syndrome. Among the neoplasms were 12 of the nervous system: 2 each of oligodendroglioma, medulloblastoma, neuroblastoma, and 3 other benign tumors; 2 of nasopharyngeal rhabdomyosarcoma; and 1 each of leiomyosarcoma, seminoma, and embryonal carcinoma. Among the other benign tumors were an ondontoma, a choristoma, a dermoid cyst, and 2 pilomatrixomas. 20 refs., 1 tab.

  16. Metabolic Syndrome

    MedlinePLUS

    ... Th M e etabolic Syndrome What is the metabolic syndrome? The term metabolic syndrome describes a cluster of risk factors that increase ... high blood sugar). The exact cause of the metabolic syndrome is not known but genetic factors, too much ...

  17. Antiphospholipid Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Antiphospholipid Syndrome Information Page Synonym(s): Hughes Syndrome Table of Contents ( ... research is being done? Clinical Trials What is Antiphospholipid Syndrome? Antiphospholipid syndrome (APS) is an autoimmune disorder caused ...

  18. Cushing's Syndrome

    MedlinePLUS

    MENU Return to Web version Cushing's Syndrome Overview What is Cushing's syndrome? Cushing's syndrome occurs when your body is exposed to high levels ... they can cause problems with your eyesight. Diagnosis & Tests How is Cushing's syndrome diagnosed? Your doctor may ...

  19. Down Syndrome

    MedlinePLUS

    ... Sledding, Skiing, Snowboarding, Skating Crushes What's a Booger? Down Syndrome KidsHealth > For Kids > Down Syndrome Print A A ... skills. continue Do a Lot of People Have Down Syndrome? Down syndrome is not contagious , so you can' ...

  20. The trisomy 18 syndrome

    PubMed Central

    2012-01-01

    The trisomy 18 syndrome, also known as Edwards syndrome, is a common chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. The condition is the second most common autosomal trisomy syndrome after trisomy 21. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The prevalence of trisomy 18 rises with the increasing maternal age. The recurrence risk for a family with a child with full trisomy 18 is about 1%. Currently most cases of trisomy 18 are prenatally diagnosed, based on screening by maternal age, maternal serum marker screening, or detection of sonographic abnormalities (e.g., increased nuchal translucency thickness, growth retardation, choroid plexus cyst, overlapping of fingers, and congenital heart defects ). The recognizable syndrome pattern consists of major and minor anomalies, prenatal and postnatal growth deficiency, an increased risk of neonatal and infant mortality, and marked psychomotor and cognitive disability. Typical minor anomalies include characteristic craniofacial features, clenched fist with overriding fingers, small fingernails, underdeveloped thumbs, and short sternum. The presence of major malformations is common, and the most frequent are heart and kidney anomalies. Feeding problems occur consistently and may require enteral nutrition. Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team. The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations. PMID:23088440

  1. Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome

    PubMed Central

    Sharma, Deepak; Lamba, Sachin; Pandita, Aakash; Shastri, Sweta

    2015-01-01

    Klippel–Trénaunay syndrome (KTS or KT) is an infrequently seen dermatological syndrome, which is often viewed as a triad of vascular malformation (capillary malformations or port-wine brands), venous varicosity, and soft tissue and/or bony hypertrophy. We report a case of a 12-year-old male who presented to us with the symptoms of varicose plaques over both lower limbs and was diagnosed as a case of KTS. Management is normally conservative and includes stockings for compression of the branches to reduce edema because of chronic venous insufficiency; modern devices that cause on and off pneumatic compression; and rarely, surgical correction of varicose veins with lifelong follow-up. The orthopedic abnormalities are treated with epiphysiodesis in order to prevent (stop) overgrowing of limb and correction of bone deformity. PMID:25861232

  2. The syndrome of pit of the lower lip and its association with cleft palate

    PubMed Central

    Kaul, Bhavna; Mahajan, Nanika; Gupta, Rakesh; Kotwal, Bhanu

    2014-01-01

    The Van der Woude syndrome is a rare autosomal dominant developmental malformation usually associated with lower lip pits, cleft lip and palate. These congenital lip pits appear, clinically, as a malformation in the vermilion border of the lip, with or without excretion. Obligate carriers of this dominant mutation may have lip pits alone, cleft(s) alone, clefts and pits or neither. Here, we present a case report of a 10 year-old male patient with Van der Woude syndrome and a brief literature on its treatment modalities. PMID:25191078

  3. The syndrome of pit of the lower lip and its association with cleft palate.

    PubMed

    Kaul, Bhavna; Mahajan, Nanika; Gupta, Rakesh; Kotwal, Bhanu

    2014-07-01

    The Van der Woude syndrome is a rare autosomal dominant developmental malformation usually associated with lower lip pits, cleft lip and palate. These congenital lip pits appear, clinically, as a malformation in the vermilion border of the lip, with or without excretion. Obligate carriers of this dominant mutation may have lip pits alone, cleft(s) alone, clefts and pits or neither. Here, we present a case report of a 10 year-old male patient with Van der Woude syndrome and a brief literature on its treatment modalities. PMID:25191078

  4. Unmasking Kabuki syndrome.

    PubMed

    Bögershausen, N; Wollnik, B

    2013-03-01

    The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a varying degree of intellectual disability. Mutation screening studies have confirmed KMT2D as the major causative gene for KS and have at the same time provided evidence for its genetic heterogeneity. In this review, we aim to summarize the current clinical and molecular genetic knowledge on KS, provide genotype-phenotype correlations and propose a strategic clinical and molecular diagnostic approach for patients with suspected KS. PMID:23131014

  5. Hypoglycemia in Kabuki syndrome.

    PubMed

    Subbarayan, Anbezhil; Hussain, Khalid

    2014-02-01

    Kabuki syndrome (KS) is a congenital malformation disorder with a spectrum of clinical manifestations involving different organs. Until the identification of MLL2 gene mutation in 2010, the diagnosis was made only clinically by the characteristic facial features with other common and uncommon features. Hypoglycemia, although an uncommon feature in KS, is very important to be recognized, as early diagnosis and appropriate management will reduce further long-term neurologic morbidity in these patients. We report on four patients with KS presenting with persistent hypoglycemia. Hyperinsulinemic hypoglycemia was the cause of hypoglycemia in two out of four patients and one patient had growth hormone deficiency. The mechanism of the hypoglycemia in one patient is still unclear. Three out of these four patients were found to have mutation in the MLL2 gene. Our observations suggest that patients with KS may have hypoglycemia due to different mechanisms and that MLL2 gene may have a role in glucose physiology. PMID:24311525

  6. [New chromosomal syndromes].

    PubMed

    Schluth-Bolard, C; Till, M; Edery, P; Sanlaville, D

    2008-09-01

    Mental retardation occurs in 2-3% of the general population either in isolation or in combination with facial dysmorphism and/or malformations. Chromosomal abnormalities are a most common etiology. Karyotype displays chromosome aberrations in about 10% of patients but it has a limited resolution (5 Mb). Recently, the development of new molecular cytogenetic tools, especially array CGH, allowed to detect smaller abnormalities and increased the diagnosis capability of 15-20%. Among these newly detected rearrangements, some of them are recurrent and define new recognized syndromes. We will first briefly explain the non-allelic homologous recombination (NAHR) mechanism that underlines the origin of recurrent microdeletions and microduplications. Then we will describe eight new syndromes, four microdeletions (del 17q21.31, del 3q29, del 15q24, del 2q32.3q33) and four microduplications (dup 22q11.2, dup 7q11.23, dup 17p11.2, duplication of MECP2). A better knowledge of these new recurrent chromosomal syndromes will allow to improve care for patients, to develop targeted chromosomal diagnosis and to identify genes involved in neurocognitive functions. PMID:18467039

  7. Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia.

    PubMed

    Watts, Laura; Wordsworth, Paul

    2015-01-01

    X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. It may mimic other more familiar conditions, such as vitamin D deficiency, ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis. We describe two cases with Chiari type 1 malformations and syringomyelia, neither of which is well recognised in XLH. The first presented late with the additional complications of spinal cord compression, pseudofracture, renal stones and gross femoroacetabular impingement requiring hip replacement. The second also had bulbar palsy; the first case to be described in this condition, to the best of our knowledge. We wish to raise awareness of the important neurological complications of syringomyelia, Chiari malformation, spinal cord compression and bulbar palsy when treating these patients. We also wish to draw attention to the utility of family history and genetic testing when making the diagnosis of this rare but potentially treatable condition. PMID:26561226

  8. Congenital pulmonary airway malformation: A report of two cases

    PubMed Central

    Bolde, Saroj; Pudale, Smita; Pandit, Gopal; Ruikar, Kirti; Ingle, Sachin B

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is not known. It occurs in approximately 1 in every 30000 pregnancies. The association between CPAM and malignancy has been well documented. There is a small risk (0.7%) of malignant transformation within the cyst. So early diagnosis and surgical resection is important to prevent the grave complications. Herein, we are reporting two interesting cases of CPAM and one belonged to Type II and other belonged to Type III of Stocker’s classification. PMID:25984523

  9. Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation

    PubMed Central

    Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term ‘diencephalic–mesencephalic junction dysplasia’ to characterize this autosomal recessive malformation. PMID:22822038

  10. Spontaneous thrombosis of a vein of galen malformation

    PubMed Central

    Mohanty, Chandan B.; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  11. Arteriovenous malformation of the mandible and parotid gland

    PubMed Central

    Shailaja, S R; Manika; Manjula, M; Kumar, L V

    2012-01-01

    Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done. PMID:22282511

  12. Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

    PubMed Central

    Mouchtouris, Nikolaos; Chitale, Ameet; Starke, Robert M.; Tjoumakaris, Stavropoula I.; Rosenwasser, Robert H.; Jabbour, Pascal M.

    2015-01-01

    Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics. PMID:25629087

  13. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    PubMed Central

    2011-01-01

    Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

  14. Novel Image-Guided Management of a Uterine Arteriovenous Malformation

    SciTech Connect

    Przybojewski, Stefan J. Sadler, David J.

    2011-02-15

    The investigators present a novel image-guided embolization, not previously described, of a uterine arteriovenous malformation (AVM) resistant to endovascular management. The uterus was exposed surgically, and Histoacryl (Braun, Fulda, Germany) was injected directly into the nidus using ultrasound guidance and fluoroscopy. The patient had a successful full-term pregnancy after this procedure. This technique may be a useful alternative management strategy in patients with uterine AVM who fail traditional endovascular embolization and who still desire fertility.

  15. Arteriovenous malformations of the brain: natural history in unoperated patients.

    PubMed Central

    Crawford, P M; West, C R; Chadwick, D W; Shaw, M D

    1986-01-01

    Two-hundred and seventeen patients from a total population of 343 patients with arteriovenous malformations, were managed without surgery. Follow up was for a mean of 10.4 years. Using life survival analyses, there was a 42% risk of haemorrhage, 29% risk of death, 18% risk of epilepsy and a 27% risk of having a neurological handicap by 20 years after diagnosis in unoperated patients. PMID:3958721

  16. [Congenital malformations of the atlas: classification and clinical significance].

    PubMed

    Villas, C; Vides, R E; Yáñez, R

    1990-01-01

    A classification of congenital anomalies of atlas is proposed in order to make a systematic approach to its radiological diagnosis. Atlas is divided in four areas (posterior arch, union of posterior arch and articulation, articulation and anterior arch) for isolated malformations and two more for occipito-atloid and atlo-axoid anomalies. The common anomalies and its possible clinical relevance in each area are described. PMID:2101495

  17. Radiosurgery for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia.

    PubMed

    Maarouf, M; Runge, M; Kocher, M; Zähringer, M; Treuer, H; Sturm, V

    2004-07-27

    The authors evaluated the efficacy of radiosurgery (RS) for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia (HHT AVMs). Two patients with seven HHT AVMs were treated by linear accelerator-RS. Complete obliteration was achieved 18 to 24 months post-treatment without side effects. Because HHT AVMs are small and multiple, RS is superior to microsurgery because it is noninvasive and all AVMs can be treated in one session regardless of their location. PMID:15277641

  18. Coexistence of an intracranial meningioma and an arteriovenous malformation.

    PubMed

    Honeybul, Stephen

    2015-01-01

    The occurrence of a primary brain tumour in association with a cerebral arteriovenous malformation (AVM) is a recognized but rarely reported finding. A 56-year-old female presented following a single tonic clonic seizure. Radiological investigations revealed a left posterior frontal parafalcine meningioma and a left parietal AVM. Both were uneventfully resected. Whether there is a causal relationship is unproven, however, this case report might lend some support to this hypothesis given the relatively close proximity of the two lesions. PMID:26060239

  19. [Hemihypertrophy and scoliosis revealing a Chiari 1 malformation with syringomyelia].

    PubMed

    Benjamin, M-D; Santiago, J; Hebert, J-C; Thirion, S; Ranaivojaona, S; Alvarez, C; Atallah, A; Sibille, G; Bataille, H; Porlys, M; Ebrad, P

    2011-11-01

    We report the case of a 9-year-old boy with progressive thoracic scoliosis and crossed hemihypertrophy who was discovered with a Chiari 1 malformation and syringomyelia. These disorders are connected by complex physiopathological mechanisms; their association deserves attention. This observation reviews the importance of the clinical examination, particularly the neurological exam, in childhood scoliosis. The features suggesting a neurogenic background of spine deformation should be sought. Scoliosis with hemihypertrophy can be the sign of an underlying neurological abnormality. PMID:21982271

  20. Multimodality intraoperative neurophysiological monitoring during Onyx embolization of cerebrovascular malformations.

    PubMed

    Deshaies, Eric M; Singla, Amit; Allott, Geoffrey; Villwock, Mark R; Li, Fenghua; Gorji, Reza

    2015-03-01

    General anesthesia prohibits neurological examination during embolization of cerebrovascular malformations when provocative testing prior to pedicle occlusion is needed. Intraoperative neurophysiological monitoring (IONM) has the potential to fill this gap but remains relatively unexplored. We conduct a retrospective review of consecutive patients with cerebrovascular malformations treated with Onyx (ethylene vinyl alcohol copolymer, dissolved in dimethyl sulfoxide) embolization under general anesthesia with IONM from 2009 to 2012. Somatosensory evoked potentials (SSEPs), transcranial motor evoked potentials (TcMEPs), visual evoked potential (VEPs), auditory brainstem response (ABR), and electroencephalography (EEG) were used selectively in all patients depending on the location of the malformation. Provocative testing combined with IONM was performed in 28 patients over 75 sessions. Three patients demonstrated changes in TcMEPs or ABR during provocative testing, which halted the planned embolization. Two patients demonstrated changes in baseline SSEPs after embolization, despite normal IONM during provocative testing, correlating with postprocedural contralateral weakness. Six patients developed visual deficits after arterial occlusion despite unchanged VEPs and occipital EEG during provocative testing and embolization. We therefore conclude that the sensitivity of TcMEPs and SSEPs is preferable to EEG, and we strongly caution against relying on occipital recorded VEPs to predict visual deficits. PMID:26036117

  1. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

    VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association. PMID:23653577

  2. [Surgical and endovascular treatment of lung arteriovenous malformations].

    PubMed

    Parshin, V D; Biriukov, Iu V; Puretski?, M V; Parshin, V V; Ippolitov, L I; Khuan, Iu

    2013-01-01

    The article summarizes the experience of surgical treatment of 47 patients (1964-2012 yy) with lung arteriovenous malformations (LAVM). Men were 29, women - 18. Age varied from 6 to 49 years. 20 patients had solitary lung arteriovenous malformations, the rest 27 had multiple malformations. Before 1983 the main diagnostic means was the angiopulmonography, since that the multyspiral computed tomography has been used. Before 1980 all patients received major surgical treatment, i.e., lobectomy (n=29), pneumonectomy (n=1) and 1 explorative thoracotomy. After 1980 the endovascular embolisation under the X-ray control took the leading place among the treatment options for these patients. 11 patients had 17 embolisations; the lung resection was performed only in 3 cases. All negative outcomes (4 lethal and 8 complications) were registered before the 1980. The were no lethal outcomes after the endovascular embolisation; only 3 patients had complications. All patients demonstrated satisfactory and good outcomes, considering objective parameters and quality of life early and long after the endovascular embolisation. PMID:24300571

  3. Sulindac metabolites decrease cerebrovascular malformations in CCM3-knockout mice

    PubMed Central

    Bravi, Luca; Rudini, Noemi; Cuttano, Roberto; Giampietro, Costanza; Maddaluno, Luigi; Ferrarini, Luca; Adams, Ralf H.; Corada, Monica; Boulday, Gwenola; Tournier-Lasserve, Elizabeth; Dejana, Elisabetta; Lampugnani, Maria Grazia

    2015-01-01

    Cerebral cavernous malformation (CCM) is a disease of the central nervous system causing hemorrhage-prone multiple lumen vascular malformations and very severe neurological consequences. At present, the only recommended treatment of CCM is surgical. Because surgery is often not applicable, pharmacological treatment would be highly desirable. We describe here a murine model of the disease that develops after endothelial-cell–selective ablation of the CCM3 gene. We report an early, cell-autonomous, Wnt-receptor–independent stimulation of β-catenin transcription activity in CCM3-deficient endothelial cells both in vitro and in vivo and a triggering of a β-catenin–driven transcription program that leads to endothelial-to-mesenchymal transition. TGF-β/BMP signaling is then required for the progression of the disease. We also found that the anti-inflammatory drugs sulindac sulfide and sulindac sulfone, which attenuate β-catenin transcription activity, reduce vascular malformations in endothelial CCM3-deficient mice. This study opens previously unidentified perspectives for an effective pharmacological therapy of intracranial vascular cavernomas. PMID:26109568

  4. Guidelines for the treatment of head and neck venous malformations

    PubMed Central

    Zheng, Jia Wei; Mai, Hua Ming; Zhang, Ling; Wang, Yan An; Fan, Xin Dong; Su, Li Xin; Qin, Zhong Ping; Yang, Yao Wu; Jiang, Yin Hua; Zhao, Yi Fang; Suen, James Y

    2013-01-01

    Venous malformation is one of the most common benign vascular lesions, with approximately 40% of cases appearing in the head and neck. They can affect a patient’s appearance and functionality and even cause life-threatening bleeding or respiratory tract obstruction. The current methods of treatment include surgery, laser therapy, sclerotherapy, or a combined. The treatment of small and superficial venous malformations is relatively simple and effective; however, the treatment of deep and extensive lesions involving multiple anatomical sites remains a challenge for the physicians. For complex cases, the outcomes achieved with one single treatment approach are poor; therefore, individualized treatment modalities must be formulated based on the patient’s condition and the techniques available. Comprehensive multidisciplinary treatments have been adapted to achieve the most effective results. In this paper, based on the national and international literature, we formulated the treatment guidelines for head and neck venous malformations to standardize clinical practice. The guideline will be renewed and updated in a timely manner to reflect cutting-edge knowledge and to provide the best treatment modalities for patients. PMID:23724158

  5. Pathophysiological analyses of cortical malformation using gyrencephalic mammals

    PubMed Central

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  6. Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis

    SciTech Connect

    Sundelin, B.; Eriksson, A.K.

    1995-12-31

    Reproduction variables of Monoporeia affinis, such as embryonic malformation were confirmed as the most sensitive variable, when soft bottom microcosms were exposed to metals such as cadmium and lead, arsenic, organic compounds such as 4,5,6 trichloroguaiacol, contaminated sediment from areas impacted by heavy metals and pulp mill effluents. The effects were demonstrated also in low concentrations that did not significantly affect the meiofauna community. The microcosm test-system with high ecological realism could offer a possibility to translate laboratory results to the natural environments. Field surveys outside different types of pulp mills and metal works on the coast of the Gulf of Bothnia have confirmed the laboratory results. Significantly higher levels of malformed embryos of Monoporeia affinis were demonstrated in the impacted areas in comparison with reference areas. The reproduction variables of Monoporeia affinis have been used in the national environmental monitoring program during two years and results indicated possibilities to distinguish between effects of xenobiotica and secondary eutrophication effects, such as unsaturated oxygen condition and occurrence of sulfides, which resulted in increased frequencies of dead eggs but not affected the frequencies of malformed eggs and embryos.

  7. Pathophysiological analyses of cortical malformation using gyrencephalic mammals.

    PubMed

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  8. Mayer-von Rokitansky-Küster-Hauser syndrome in association with a hitherto undescribed variant of the Holt-Oram syndrome with an aorto-pulmonary window.

    PubMed

    Ulrich, U; Schrickel, J; Dorn, C; Richter, O; Lewalter, T; Lüderitz, B; Rhiem, K

    2004-05-01

    We report on the association of Mayer-von Rokitansky-Küster-Hauser syndrome (MRKHS) with a unique form of Holt-Oram syndrome (HOS) with an aorto-pulmonary window. A 24-year-old Turkish woman was referred to our hospital because of primary amenorrhoea. Both her vagina and uterus were absent, and the diagnosis of MRKHS was established. Laparoscopic creation of a neovagina by the modified Vecchietti technique was performed. A rare congenital malformation of the heart, namely an aorto-pulmonary window, had required cardiac surgery when the patient was a 6-month-old infant. This cardiac malformation plus associated upper limb anomalies led to the clinical diagnosis of HOS. To the best of our knowledge, this is only the second report in the scientific literature on the concurrence of MRKHS and HOS, and the first published case of HOS with an aorto-pulmonary window as the cardiac malformation. PMID:15070885

  9. [Osteosarcoma and ATR-16 syndrome: association or coincidence?].

    PubMed

    Regueiro García, A; Saborido Fiaño, R; González Calvete, L; Vázquez Donsión, M; Couselo Sánchez, J M; Fernández Sanmartín, M

    2015-01-01

    ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma. PMID:24631100

  10. Congenital unilateral perisylvian syndrome: radiological basis and clinical correlations.

    PubMed Central

    Sébire, G; Husson, B; Dusser, A; Navelet, Y; Tardieu, M; Landrieu, P

    1996-01-01

    DESIGN--Advances in neuroimaging have allowed correlations between radiological patterns and clinical features of brain malformations. This paper reports clinical, prognosis, and electroencephalographic features of six children with a previously unrecognised neuroimaging picture of unilateral widening and verticalisation of the sylvian fossa associated with an abnormal ipsilateral perisylvian cortex. RESULTS--All children had reduced hemisphere size and thalamostriatal hypoplasia ipsilateral to the cleft and hemiplegia. Cognitive development was mostly impaired. Epilepsy occurred in two patients and was mainly characterised by partial seizures. Studies with EEG showed hemispheric slowing of background activity homolateral to the perisylvian dysplasia. Occurrence of the malformation among their siblings was not found. CONCLUSION--Similar brain malformations occasionally reported in older patients confirm the clinical picture, sporadic occurrence, and prognosis found, allowing the validation of a unilateral perisylvian syndrome. Images PMID:8676160

  11. [Frequency, dynamics, and structure of congenital malformations in populations under long-term exposure to ionizing radiation].

    PubMed

    Sviatova, G S; Abil'dinova, G Zh; Berezina, G M

    2001-12-01

    Information on the dynamics, frequency, and structure of congenital malformations (CMs) and chromosomal diseases in two generations of rural populations from the Semipalatinsk region was obtained for the first time. The tests performed in the Semipalatinsk nuclear test site (STS) for many years were demonstrated to deteriorate the genetic health of the populations of the zones of extreme and maximum radiation risks. Mutagenic and teratogenic effects of long-term ionizing irradiation were detected. These were mainly expressed as an increase in the frequencies of strictly registered CMs (SR CMs), including the Down syndrome, multiple malformations (MMs) and microcephaly (1.45 +/- 0.11, 1.39 +/- 0.01, and 0.77 +/- 0.05 per 1000 births, respectively). SR CMs exhibited linear trends toward higher frequencies in two generations of exposed persons after surface nuclear tests in 1949-1963. Their frequency was strongly correlated with the effective population dose of radiation; the main population genetic parameters (inbreeding coefficient, endogamy index, etc.) had less pronounced effects on Cms. PMID:11785298

  12. A gene prenature ovarian failure associated with eyelid malformation maps to chromosomes 3q22-q23

    SciTech Connect

    1996-05-01

    Premature ovarian failure and XX gonadal dysgenesis leading to female infertility have been reported in association with an autosomal dominantly inherited malformation of the eyelids: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM 110100). This association distinguishes BPES type I from BPES type II, in which affected females are fertile and the transmission occurs through both sexes. Recently, a gene responsible for BPES type II has been mapped to chromosome 3q22-q23, and the critical region for the gene location has been reduced to the interval between loci D3S1615 and D3S1316. Hitherto, however, no information regarding the localization of the gene for BPES type I, in which female ovarian failure is associated with eyelid malformation, has been available. We have studied two independent families affected with BPES type I, including a total of 12 affected individuals (6 infertile women) and 6 healthy relatives. The diagnostic criteria for the ophthalmological anomaly included (1) reduced horizontal diameter of palpebral fissures, (2) drooping of the upper eyelids, and (3) an abnormal skinfold running from the lower lids. Telecanthus and a flat nasal bridge were present in most cases. In both families the disease was transmitted only by the male, and no affected woman of childbearing age was fertile. 12 refs., 2 figs., 1 tab.

  13. Developmental outcome in Kabuki syndrome.

    PubMed

    Vaux, Keith K; Jones, Kenneth L; Jones, Marilyn C; Schelley, Susan; Hudgins, Louanne

    2005-01-30

    Over the last 20 years, a wide spectrum of congenital anomalies have been described in association with Kabuki syndrome (KS). However, very little information is available on developmental outcome. As more individuals with this syndrome are recognized and reported, it appears that as many as one-sixth may have normal intelligence. The purpose of this report is to describe the developmental outcome in 15 patients with KS, to determine whether a recognizable pattern of disabilities exist, and whether developmental outcome correlates with the presence of malformations. We ascertained 15 patients with KS from three dysmorphology and clinical genetics services in which developmental milestones and formal developmental testing were available. Based on these patients and a review of the literature, in the absence of major structural brain anomalies, the average intelligence quotient (IQ) in patients with this condition fall within the mild mental retardation range, however, specific developmental outcomes are widely variable, ranging from severe MR to normal intelligence. The presence or absence of hearing loss or major malformations, other than those involving the brain, was not predictive of developmental outcome. PMID:15523636

  14. Surgical management of scalp arterio-venous malformation and scalp venous malformation: An experience of eleven cases

    PubMed Central

    Chowdhury, Forhad Hossain; Haque, Mohammod Raziul; Kawsar, Khandkar Ali; Sarker, Mainul Haque; Momtazul Haque, A. F. M.

    2013-01-01

    Aims: Scalp arterio-venous malformation (AVM) and scalp venous malformation (SVM) are rare conditions that usually need surgical treatment. Here, we have reported our experience of the surgical management of such lesions with a short review of the literature. Materials and Methods: In this prospective study, 11 patients with scalp AVM and SVM, who underwent surgical excision of lesion in our hospital from 2006 to 2012, were included. All suspected high-flow AVM were investigated with the selective internal and external carotid digital subtraction angiogram (DSA) ± computed tomography (CT) scan of brain with CT angiogram or magnetic resonance imaging (MRI) of brain with MR angiogram, and all suspected low-flow vascular malformation (VM) was investigated with MRI of brain + MR angiogram. Eight were high-flow and three were low-flow VM. Results: All lesions were successfully excised. Scalp cosmetic aspects were acceptable in all cases. There was no major post-operative complication or recurrence till last follow-up. Conclusions: With preoperative appropriate surgical planning, scalp AVM and SVM can be excised without major complication. PMID:23960313

  15. Congenital Brain and Spinal Cord Malformations and Their Associated Cutaneous Markers.

    PubMed

    Dias, Mark; Partington, Michael

    2015-10-01

    The brain, spinal cord, and skin are all derived from the embryonic ectoderm; this common derivation leads to a high association between central nervous system dysraphic malformations and abnormalities of the overlying skin. A myelomeningocele is an obvious open malformation, the identification of which is not usually difficult. However, the relationship between congenital spinal cord malformations and other cutaneous malformations, such as dimples, vascular anomalies (including infantile hemangiomata and other vascular malformations), congenital pigmented nevi or other hamartomata, or midline hairy patches may be less obvious but no less important. Pediatricians should be aware of these associations, recognize the cutaneous markers associated with congenital central nervous system malformations, and refer children with such markers to the appropriate specialist in a timely fashion for further evaluation and treatment. PMID:26416933

  16. Bill malformations in double-crested cormorants with low exposure to organochlorines

    SciTech Connect

    Kuiken, T.; Fox, G.A.; Danesik, K.L.

    1999-12-01

    Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.

  17. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

    PubMed Central

    2014-01-01

    Joubert syndrome is a clinically and genetically heterogeneous ciliopathy characterized by a typical cerebellar and brainstem malformation (the “molar tooth sign”), and variable multiorgan involvement. To date, 24 genes have been found mutated in Joubert syndrome, of which 13 also cause Meckel syndrome, a lethal ciliopathy with kidney, liver and skeletal involvement. Here we describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome. PMID:24886560

  18. A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition

    PubMed Central

    Sharma, Deepak; Singh, Ravinder; Shastri, Sweta

    2015-01-01

    Aphallia (absence of penis) is an extremely rare abnormality which has rarely been described in medical literature and can be part of the urorectal septum malformation sequence (URSMS). URSMS has hardly been reported in medical literature and includes the absence of perineal and anal openings in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. This case report tells the importance of detailed examination of infants that are diagnosed with aphallia. We report a case of a newborn who was diagnosed as aphallia with the URSMS syndrome after birth. The neonate had an endocardial cushion defect (atrial septal defect and ventricular septal defect) and bilateral agenesis of the kidney. The neonate succumbed to death secondary to hypoplastic lung leading to respiratory failure. PMID:26673776

  19. A case report of aphallia with urorectal septum malformation sequence in a newborn: a very rarely seen condition.

    PubMed

    Sharma, Deepak; Singh, Ravinder; Shastri, Sweta

    2015-01-01

    Aphallia (absence of penis) is an extremely rare abnormality which has rarely been described in medical literature and can be part of the urorectal septum malformation sequence (URSMS). URSMS has hardly been reported in medical literature and includes the absence of perineal and anal openings in association with ambiguous genitalia and urogenital, colonic, and lumbosacral anomalies. This case report tells the importance of detailed examination of infants that are diagnosed with aphallia. We report a case of a newborn who was diagnosed as aphallia with the URSMS syndrome after birth. The neonate had an endocardial cushion defect (atrial septal defect and ventricular septal defect) and bilateral agenesis of the kidney. The neonate succumbed to death secondary to hypoplastic lung leading to respiratory failure. PMID:26673776

  20. Shprintzen-Goldberg syndrome: a clinical analysis.

    PubMed

    Greally, M T; Carey, J C; Milewicz, D M; Hudgins, L; Goldberg, R B; Shprintzen, R J; Cousineau, A J; Smith, W L; Judisch, G F; Hanson, J W

    1998-03-19

    Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. Eleven cases were reported previously. We present 4 new patients and review one of the patients of the original report of Shprintzen and Goldberg [1982: J Craniofac Genet Dev Biol 2:65-74], 15 years later. The clinical and radiologic findings on our patients are compared with those of the previously reported patients and also with those of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224], who share many of the characteristics of Shprintzen-Goldberg syndrome. Some of the clinical data are helpful in determining if the patients of Furlong et al. [1987: Am J Med Genet 26:599-604] and Lacombe and Battin [1993: Clin Dysmorphol 2: 220-224] have a separate syndrome or represent a variant of Shprintzen-Goldberg syndrome. However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydrocephalus, dilatation of the lateral ventricles, and a Chiari-I malformation of the brain were found only in the patients with Shprintzen-Goldberg syndrome. The apparently diagnostic findings of the 15 patients with this syndrome may be helpful in differentiating between Shprintzen-Goldberg syndrome and other syndromes with craniosynostosis and marfanoid habitus. PMID:9508238

  1. Emerging role of contrast-enhanced MRI in diagnosing vascular malformations.

    PubMed

    Turley, Ryan S; Lidsky, Michael E; Markovic, Jovan N; Shortell, Cynthia K

    2014-07-01

    Vascular malformations comprise a diverse and rare group of lesions which generally pose a formidable treatment challenge. Requisite for optimal surgical planning are imaging modalities capable of delineating involved anatomy and malformation flow characteristics. In this regard, we and others have purported the advantages of contrast-enhanced MRI. Here, we review the current body of literature regarding the emerging of role of contrast enhanced MRI for the management of vascular malformations. PMID:25301311

  2. Arteriovenous malformation of the forearm as a result of a persistent median artery.

    PubMed

    Krishnamoorthy, L; Murison, M S; Sykes, P J

    1998-12-01

    Most arteriovenous malformations usually arise from pre-existing named vessels. We report an unusual variant of an arteriovenous malformation. An 18-year-old man presented with a painful swelling of the right forearm. Arteriograms suggested branches of the anterior interosseous artery were feeding the malformation. Operative findings however, revealed the presence of a persistent median artery, which was contributing branches to the swelling. PMID:9888694

  3. Definitions and Anatomic Considerations in Chiari I Malformation and Associated Syringomyelia.

    PubMed

    Tubbs, R Shane

    2015-10-01

    Current understanding of the hindbrain hernias known as Chiari I malformations is based on more than 100 years of pathologic and clinical experience. Over time, the definition of this finding has been analyzed and altered. The term Chiari I malformation is currently used to describe tonsillar ectopia in a wide range of patients with varying embryonic derailments. This article discusses this malformation, its various definitions, and varied anatomic traits. In addition, the morphology of the commonly associated syringomyelia is reviewed. PMID:26408056

  4. Aortic Runoff as a Sign of Intracranial Arteriovenous Malformation: Report of Two Cases

    PubMed Central

    Moradian, Maryam; Nokhostin-Davari, Paridokht; Merajie, Mahmood; Pouraliakbar, Hamid-Reza

    2013-01-01

    Background Intracranial arteriovenous malformation rarely causes pulmonary hypertension and congestive heart failure in the newborn. Its diagnosis is challenging because cardiomegaly may suggest an intra-cardiac structural lesion. Case Presentation We present two newborns, one 2-day-old male and the other 11-day-old female, with intracranial arteriovenous malformation and misdiagnosis of congenital heart disease. Conclusion Precise echocardiography revealed the secondary signs of cranial arteriovenous malformation and had the major role in early diagnosis. PMID:23724190

  5. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

    PubMed

    McVeigh, Terri P; Banka, Siddharth; Reardon, William

    2015-10-01

    Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable. PMID:26049589

  6. Current Therapeutic Options in Sturge-Weber Syndrome.

    PubMed

    Comi, Anne

    2015-12-01

    Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid "angioma" of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused by a somatic mosaic mutation in GNAQ. In patients with Sturge-Weber syndrome, brain involvement typically presents in infancy with seizures, strokes, and stroke-like episodes, and a range of neurologic impairments. Standard treatment includes laser therapy for the birthmark, control of glaucoma through eyedrops or surgery, and the use of anticonvulsants. Increasingly low-dose aspirin is offered. Treatment with propranolol has been tried generally without the dramatic results seen in hemangiomas. Treatment with an anticonvulsant or low-dose aspirin or both before the onset of seizures is an option. Surgical resection may be offered to those whose seizures are medically refractory. Endocrine, medical rehabilitation and cognitive comorbidities are important to manage. In the future, new therapeutic options are likely to be offered stemming from preclinical studies and small pilot clinical trials currently ongoing. Discovery of the causative somatic mosaic mutation suggests new insights into the pathophysiology of this vascular malformation disorder, and potential novel treatment strategies for future study. The mutation results in constitutive overactivation of the Ras-Raf-MEK-ERK and the HIPPO-YAP pathways and inhibitors of these pathways may in the future prove useful in the treatment of Sturge-Weber syndrome. PMID:26706016

  7. Ruptured spinal arteriovenous malformation: Presenting as stunned myocardium and neurogenic shock

    PubMed Central

    Mehesry, Tasneem H.; Shaikh, Nissar; Malmstrom, Mohammad F.; Marcus, Marco A. E.; Khan, Adnan

    2015-01-01

    Background: Neurogenic pulmonary edema (NPE) is a clinical syndrome usually defined as an acute pulmonary edema occurring shortly after a central neurologic insult. NPE was identified 100 years ago, but it is still underappreciated in the clinical setup. NPE usually appears within minutes to hours after the injury. It has a high mortality rate if not recognized early and treated appropriately. Similarly, neurogenic shock is a known complication of spinal cord injury reported incidence is more than 20% in isolated upper cervical spinal injury. But NPE is rare to occur, and stunned myocardium (SM) is not reported in spinal arteriovenous malformation (AVM) rupture. SM is a reversible cardiomyopathy resulting in transient left ventricular dysfunction which has been described to occur in the setting of catecholamine release during situations of physiologic stress. We report a case of high spinal AVM rupture presenting as SM, NPE, and neurogenic shock. Case Description: A 32-year-old male who presented with sudden onset of pain and weakness in upper limbs. Imaging studies showed AVM rupture by imaging techniques. Initially, the patient had severe hypertension, respiratory distress requiring intubation and ventilation, then he developed hypotension, bradycardia, and asystole, which required immediate cardiopulmonary resuscitation and atropine. He remained with quadriplegia and suffered from frequent episodes of bradycardia and asystole. Conclusions: Spinal AVM rupture can present as neurogenic shock, stunned myocardium, and pulmonary edema. Early recognition of AVM rupture and prompt surgical intervention, as well as aggressive treatment of shock, may enhance recovery and decrease the long-term morbidity. PMID:26539315

  8. B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.

    PubMed

    Hedberg, Carola; Oldfors, Anders; Darin, Niklas

    2014-05-01

    Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of ?-dystroglycan. They include disease entities such a Walker-Warburg syndrome, muscle-eye-brain disease and various other clinical phenotypes. Different genes involved in glycosylation of ?-dystroglycan are associated with these dystroglycanopathies. We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels. Immunhistochemistry of skeletal muscle revealed reduced glycosylated ?-dystroglycan. Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical cerebellar cysts. By whole exome sequencing, the patient was identified to be compound heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 (?-1,3-N-acetylgalactosaminyltransferase 2; B3GalNAc-T2). This patient showed a milder phenotype than previously described patients with mutations in the B3GALNT2 gene. PMID:24084573

  9. Trematode infection causes malformations and population effects in a declining New Zealand fish.

    PubMed

    Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

    2010-03-01

    1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered. PMID:19886894

  10. Arteriovenous malformations in hereditary haemorrhagic telangiectasia: looking beyond ALK1-NOTCH interactions.

    PubMed

    Peacock, Hanna M; Caolo, Vincenza; Jones, Elizabeth A V

    2016-02-01

    Hereditary haemorrhagic telangiectasia (HHT) is characterized by the development of arteriovenous malformations-enlarged shunts allowing arterial flow to bypass capillaries and enter directly into veins. HHT is caused by mutations in ALK1 or Endoglin; however, the majority of arteriovenous malformations are idiopathic and arise spontaneously. Idiopathic arteriovenous malformations differ from those due to loss of ALK1 in terms of both location and disease progression. Furthermore, while arteriovenous malformations in HHT and Alk1 knockout models have decreased NOTCH signalling, some idiopathic arteriovenous malformations have increased NOTCH signalling. The pathogenesis of these lesions also differs, with loss of ALK1 causing expansion of the shunt through proliferation, and NOTCH gain of function inducing initial shunt enlargement by cellular hypertrophy. Hence, we propose that idiopathic arteriovenous malformations are distinct from those of HHT. In this review, we explore the role of ALK1-NOTCH interactions in the development of arteriovenous malformations and examine a possible role of two signalling pathways downstream of ALK1, TMEM100 and IDs, in the development of arteriovenous malformations in HHT. A nuanced understanding of the precise molecular mechanisms underlying idiopathic and HHT-associated arteriovenous malformations will allow for development of targeted treatments for these lesions. PMID:26645978

  11. [Monitoring of pregnancies exposed to drugs in France: the experience of the registries of congenital malformations].

    PubMed

    Doray, Bérénice

    2014-01-01

    Registries of congenital malformations were implemented in many industrialized countries following the drama of thalidomide. In 2013, four French registries of congenital malformations in France provide the systematic epidemiological surveillance of birth defects. All are part of international networks of registries, especially European surveillance of congenital anomalies (EUROCAT). If the development of prevention actions including prenatal diagnosis has gradually led the registries to play a key role of assessment on the impact of public health policies, one of the major roles of registries of congenital malformations remains early detection of clusters of malformations secondary to teratogenic effects. PMID:24698188

  12. Split cord malformations of the lumbar region. A model for the neurosurgical management of all types of 'occult' spinal dysraphism?

    PubMed

    Andar, U B; Harkness, W F; Hayward, R D

    1997-01-01

    From a group of 84 patients with split cord malformations presenting to our Department between 1976 and 1990, we have selected 47 cases in whom the split cord was confined to the lower dorsal-lumbar region and in whom there were no other dysraphic features such as meningocele, lipoma or dermoid cyst. We have studied these cases of 'pure split cord malformation' in an attempt to decipher its natural history and the effects of surgical procedures designed to untether the spinal cord. We conclude that the 'neuro-orthopaedic syndrome' (which includes lower limb asymmetry, talipes and modest sensory and motor problems) is, in most cases, an inevitable consequence of the abnormal functional anatomy of the split cord and is not due to any mechanical effects of tethering of the spinal cord. Its emergence as a child grows (assuming that it was not obvious at birth) is not influenced by surgery. True neurological deterioration (defined as the loss of a previously established neurological or urological function) is a rarer event. It may occur at any age--including well into adulthood--but in children the average age at presentation is 6.8 years (range 2 years 9 months to 11 years). It is due to the mechanical effects of tethering of the spinal cord and is more likely to be arrested than improved by surgery. 'True' deterioration did not occur in any of our cases who had undergone prophylactic untethering of the spinal cord and we have concluded, therefore, that surgery has a role in the prevention of late neurological problems affecting the lower limbs and bladder. Surgery to untether the spinal cord will not, however, have any affect upon the emergence of the neuro-orthopaedic syndrome. PMID:9361113

  13. Neonatal diagnosis of 49, XXXXY syndrome

    PubMed Central

    Etemadi, Katayoon; Basir, Behnaz; Ghahremani, Safieh

    2015-01-01

    Background: 49, XXXXY syndrome is a rare sex chromosomal disorder, occurring in 1 per 85,000-100,000 male births. The classical phenotype is ambiguous genitalia, facial dysmorphism, mental retardation and a combination of cardiac, skeletal and other malformations. Case: A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet, microphallus, and right undescendent testis were seen by neonatologist. Chromosomal studies via techniques of GTG-banding showed the constitution to be 49,XXXXY in all cells. He was visited by the pediatric cardiologist for congenital heart disease. No obvious malformation and congenital heart disease were seen. Conclusion: In the case, the main presentation of IUGR and low birth weight, clinodactyly with facial dysmorphism and genital abnormalities led to a suspicion of a sex chromosome aneuploidy which was subsequently confirmed by chromosomal analysis. PMID:26000009

  14. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

    PubMed Central

    Lalani, Seema R; Shaw, Chad; Wang, Xueqing; Patel, Ankita; Patterson, Lance W; Kolodziejska, Katarzyna; Szafranski, Przemyslaw; Ou, Zhishuo; Tian, Qi; Kang, Sung-Hae L; Jinnah, Amina; Ali, Sophia; Malik, Aamir; Hixson, Patricia; Potocki, Lorraine; Lupski, James R; Stankiewicz, Pawel; Bacino, Carlos A; Dawson, Brian; Beaudet, Arthur L; Boricha, Fatima M; Whittaker, Runako; Li, Chumei; Ware, Stephanie M; Cheung, Sau Wai; Penny, Daniel J; Jefferies, John Lynn; Belmont, John W

    2013-01-01

    Clinically significant cardiovascular malformations (CVMs) occur in 5–8 per 1000 live births. Recurrent copy number variations (CNVs) are among the known causes of syndromic CVMs, accounting for an important fraction of cases. We hypothesized that many additional rare CNVs also cause CVMs and can be detected in patients with CVMs plus extracardiac anomalies (ECAs). Through a genome-wide survey of 203 subjects with CVMs and ECAs, we identified 55 CNVs >50?kb in length that were not present in children without known cardiovascular defects (n=872). Sixteen unique CNVs overlapping these variants were found in an independent CVM plus ECA cohort (n=511), which were not observed in 2011 controls. The study identified 12/16 (75%) novel loci including non-recurrent de novo 16q24.3 loss (4/714) and de novo 2q31.3q32.1 loss encompassing PPP1R1C and PDE1A (2/714). The study also narrowed critical intervals in three well-recognized genomic disorders of CVM, such as the cat-eye syndrome region on 22q11.1, 8p23.1 loss encompassing GATA4 and SOX7 and 17p13.3-p13.2 loss. An analysis of protein-interaction databases shows that the rare inherited and de novo CNVs detected in the combined cohort are enriched for genes encoding proteins that are direct or indirect partners of proteins known to be required for normal cardiac development. Our findings implicate rare variants such as 16q24.3 loss and 2q31.3-q32.1 loss, and delineate regions within previously reported structural variants known to cause CVMs. PMID:22929023

  15. Screening and Treatment of Tethered Spinal Cord in Anorectal Malformation Patients.

    PubMed

    van den Hondel, Desiree; Sloots, Cornelius; de Jong, T H Rob; Lequin, Maarten; Wijnen, Rene

    2016-02-01

    Introduction?This study aims to evaluate diagnosis and treatment of tethered spinal cord (TSC) in anorectal malformation (ARM) patients. Material and Methods?A retrospective case study was performed on patients with an ARM born between 2004 and 2011 and treated at the Erasmus MC-Sophia Children's Hospital. Results?During the study period, 110 neonates with ARM were treated. Spinal ultrasonography was performed in 94 (85%) patients. Ultrasonography findings were abnormal in 17 patients (18%): 16 had evidence for TSC and 1 for caudal regression. These findings were confirmed by magnetic resonance imaging (MRI) in eight patients. Six of the other 76 patients developed neurologic symptoms and MRI revealed evidence for TSC in 2 of those 6 patients. Thus, sensitivity of spinal ultrasonography was 80%, specificity was 89%, the positive predictive value was 47%, and the negative predictive value was 97%. The prevalence of TSC, as confirmed by MRI, was 9%. Three patients underwent untethering surgery: one patient developed neurologic symptoms and two patients were asymptomatic at the time of surgery (MRI showed progressive syringomyelia in one and the other had a dermal sinus with TSC). All operations were without any complications and the symptoms resolved in the first patient. A relationship between TSC and a specific type of ARM or syndrome disorder could not be found. Conclusions?Tethered cord occurs in 9% of the ARM patients. Neonatal spinal ultrasonography has a sensitivity and specificity of 80 and 89%, respectively. Not in all patients an MRI was performed, but the vast majority remained clinically asymptomatic concerning TSC. Ultrasound screening seems an effective screening method, however, when ultrasonography is negative and the patient becomes symptomatic later in life, an MRI should be performed to exclude TSC. In our series, only 1 of 110 ARM patients had symptomatic tethered cord syndrome, and symptoms resolved postoperatively. PMID:26394371

  16. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

    PubMed

    Campeau, Philippe M; Hennekam, Raoul C

    2014-09-01

    DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. PMID:25169651

  17. Dravet Syndrome

    MedlinePLUS

    ... NINDS Dravet Syndrome Information Page Synonym(s): Severe Myoclonic Epilepsy of Infancy (SMEI) Table of Contents (click to ... Dravet Syndrome? Dravet syndrome, also called severe myoclonic epilepsy of infancy (SMEI), is a severe form of ...

  18. Metabolic syndrome

    MedlinePLUS

    Metabolic syndrome is a name for a group of risk factors that occur together and increase the chance ... Metabolic syndrome is becoming very common in the United States. Doctors are not sure whether the syndrome is ...

  19. Down Syndrome

    MedlinePLUS

    ... NICHD Research Information Clinical Trials Resources and Publications Down Syndrome: Condition Information Skip sharing on social media links Share this: Page Content What is Down syndrome? Down syndrome describes a set of cognitive and ...

  20. Piriformis Syndrome

    MedlinePLUS

    ... Awards Enhancing Diversity Find People About NINDS NINDS Piriformis Syndrome Information Page Table of Contents (click to jump ... is being done? Clinical Trials Organizations What is Piriformis Syndrome? Piriformis syndrome is a rare neuromuscular disorder that ...

  1. P450 oxidoreductase deficiency and Antley-Bixler syndrome.

    PubMed

    Arlt, Wiebke

    2007-12-01

    Antley-Bixler syndrome is a congenital malformation syndrome that primarily manifests with craniofacial abnormalities but may include skeletal malformations. Some cases have been shown to be caused by fibroblast growth factor receptor 2 mutations and, recently, it was revealed that others are caused by mutations in the electron donor enzyme P450 oxidoreductase (POR). P450 oxidoreductase deficiency, however, is not only associated with the malformations but frequently presents with disordered sex development in affected patients of both sexes. Furthermore, biochemical work-up invariably reveals impairment of 17-hydroxylase and 21-hydroxylase activities, two steroidogenic enzymes dependent on electron transfer from POR. While we begin to gain insight into the pathogenesis of disease, detailed genotype-phenotype studies are still lacking and POR deficiency presents several challenges for research. Firstly, the exact pathogenesis of the skeletal malformations as a consequence of POR mutations is unclear, though impaired sterol biosynthesis has been implicated. Secondly, it needs to be explained, why the external genitalia in affected boys may appear undervirilized while affected girls can be severely virilized. Further evidence is required for the proposed alternative pathway in human androgen synthesis that might explain the apparently contradictory finding of low circulating androgens and severely virilised external genitalia in affected girls. Recent studies have provided evidence for a differential interaction of specific POR mutations with different electron-accepting P450 enzymes and this may provide the key for further understanding of the complex pathogenesis of this complex disease. PMID:17960482

  2. Blue Rubber Bleb Nevus Syndrome as a rare Cause of Iron Deficiency Anemia: a Case Report and Review of Literature

    PubMed Central

    Zahedi, Mohammad Javad; Darvish Moghadam, Sodaif; Seyed Mirzaei, Seyed Mahdi; Dehghani, Masood; Shafiei pour, Sara; Rasti, Atefe

    2013-01-01

    Blue Rubber Bleb Nevus Syndrome is a rare disorder that is characterized by multiple recurrent vascular malformations of skin and gastrointestinal tract. The affected patients may present with diverse manifestations including iron deficiency anemia. We report this syndrome in a 22-year-old man that was referred to our hospital for iron deficiency anemia with unknown cause and vascular malformations in the skin and gastrointestinal tract. Because of stable hemoglobin level, we decided to treatment him by iron supplementation and close follow up. We report this case along with a review of literature. PMID:24829697

  3. Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome

    PubMed Central

    Yilmaz, E; Kansu, Ö; Özgen, B; Akçiçek, G; Kansu, H

    2013-01-01

    Proteus syndrome is a rare disorder with progressive asymmetrical and disproportionate overgrowth of various tissues of the body. The syndrome is characterized by a wide range of malformations, including craniofacial deformities. Extraoral examination revealed several of the classical craniofacial features of Proteus syndrome: pronounced hemifacial hypertrophy, macrodactyly and hyperostosis. Intraoral examination revealed a high arched palate and gingival hyperplasia. Other findings were unilateral enlargement of the tongue, alveolar growth and dilaceration of the roots of the teeth. There were severe degenerative changes and deformities in the left temporomandibular joint but the oversized condyle was asymptomatic; there was no pain, limitation and deviation at mouth opening. Treatment was not necessary owing to the asymptomatic situation but periodic follow-up with clinical and radiographic examination was considered. The aim of this article is to describe the radiographic manifestations of an asymptomatic condyle malformation and other craniofacial, oral and dental findings in a 33-year-old female patient with known Proteus syndrome. PMID:22241876

  4. Operative Management of OSAS in a Complex Case of Proteus Syndrome

    PubMed Central

    Cantone, Elena; Cavaliere, Michele; Castagna, Giovanni; Marino, Anna; Del Vecchio, Luigi; Iengo, Maurizio

    2015-01-01

    Obstructive sleep apnea syndrome (OSAS) is a common disorder in childhood with high prevalence in syndromic subjects with craniofacial malformations. Proteus Syndrome (PS) is a rare hamartoneoplastic disorder associated with disproportionate and asymmetric overgrowth of body parts and hypertrophy or malformation of lymphatic tissues, such as palatine tonsils. We report a case of a 12-year-old boy diagnosed with Proteus Syndrome (PS) and suffering from OSAS due to asymmetric palatine tonsillar hypertrophy, treated with partial resection of left tonsil. To avoid the risk of a general anesthesia and remove only the obstructive portion of the palatine tonsil bipolar radiofrequency-induced thermotherapy (RFITT) under local anesthesia was performed. Recovery of the obstructive respiratory disease was obtained. To our knowledge, this is the first case reported in the literature of partial tonsillar resection performed in a patient with PS suffering from OSAS under local anesthesia. PMID:26199778

  5. Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome.

    PubMed

    Yilmaz, E; Kansu, O; Ozgen, B; Akçiçek, G; Kansu, H

    2013-01-01

    Proteus syndrome is a rare disorder with progressive asymmetrical and disproportionate overgrowth of various tissues of the body. The syndrome is characterized by a wide range of malformations, including craniofacial deformities. Extraoral examination revealed several of the classical craniofacial features of Proteus syndrome: pronounced hemifacial hypertrophy, macrodactyly and hyperostosis. Intraoral examination revealed a high arched palate and gingival hyperplasia. Other findings were unilateral enlargement of the tongue, alveolar growth and dilaceration of the roots of the teeth. There were severe degenerative changes and deformities in the left temporomandibular joint but the oversized condyle was asymptomatic; there was no pain, limitation and deviation at mouth opening. Treatment was not necessary owing to the asymptomatic situation but periodic follow-up with clinical and radiographic examination was considered. The aim of this article is to describe the radiographic manifestations of an asymptomatic condyle malformation and other craniofacial, oral and dental findings in a 33-year-old female patient with known Proteus syndrome. PMID:22241876

  6. Congenital bronchopulmonary vascular malformations, “sequestration” and beyond

    PubMed Central

    Irodi, Aparna; Prabhu, Shailesh M; John, Reetu Amrita; Leena, RV

    2015-01-01

    Congenital bronchopulmonary vascular malformations (BPVMs) include a broad spectrum of disorders that involve abnormalities in the form of disruptions of normal communication and/or presence of abnormal communication between one or more of the three main systems of the lung, namely, the airways, arteries, and veins. The establishment of abnormal communications by means of small openings or anastomoses is termed as malinosculation. The aim of this pictorial essay is to illustrate the imaging appearances of the various types of pulmonary malinosculation. PMID:25709164

  7. Vasospasm after intraventricular hemorrhage caused by arteriovenous malformation

    PubMed Central

    Tseng, Wei-Lung; Tsai, Yi-Hsin

    2015-01-01

    Intraventricular hemorrhage (IVH) induced vasospasm is rare in clinical practice. We report a case with vasospasm 10 days after IVH due to thalamic bleeding from an arteriovenous malformation. The vasospasm was so severe that transarterial embolization failed. Follow-up angiography could not reveal the vascular lesion and spontaneous thrombosis was considered. The discussion includes literature review and possible mechanism of such phenomenon. IVH-related vasospasm is rare but should always be kept in mind. Early detection with proper treatment provides better clinical outcome in such cases. PMID:25972942

  8. Vascular Integrity in the Pathogenesis of Brain Arteriovenous Malformation

    PubMed Central

    Zhang, Rui; Zhu, Wan

    2015-01-01

    Brain arteriovenous malformation (bAVM) is an important cause of intracranial hemorrhage (ICH), particularly in the young population. ICH is the first clinical symptom in about 50 % of bAVM patients. The vessels in bAVM are fragile and prone to rupture, causing bleeding into the brain. About 30 % of unruptured and non-hemorrhagic bAVMs demonstrate microscopic evidence of hemosiderin in the vascular wall. In bAVM mouse models, vascular mural cell coverage is reduced in the AVM lesion, accompanied by vascular leakage and microhemorrhage. In this review, we discuss possible signaling pathways involved in abnormal vascular development in bAVM. PMID:26463919

  9. Clinical Presentation of Chiari I Malformation and Syringomyelia in Children.

    PubMed

    Pindrik, Jonathan; Johnston, James M

    2015-10-01

    Chiari I malformation and syringomyelia may be associated with a wide spectrum of symptoms and signs in children. Clinical presentations vary based on patient age and relative frequency; some diagnoses represent incidental radiographic findings. Occipitocervical pain, propagated or intensified by Valsalva maneuvers (or generalized irritability in younger patients unable to communicate verbally), and syringomyelia with or without scoliosis are the most common clinical presentations. Cranial nerve or brainstem dysfunction also may be observed in younger patients, and is associated with more complex deformity that includes ventral compression secondary to basilar invagination, retroflexion of the dens, and/or craniocervical instability. PMID:26408059

  10. Vascular Integrity in the Pathogenesis of Brain Arteriovenous Malformation.

    PubMed

    Zhang, Rui; Zhu, Wan; Su, Hua

    2016-01-01

    Brain arteriovenous malformation (bAVM) is an important cause of intracranial hemorrhage (ICH), particularly in the young population. ICH is the first clinical symptom in about 50 % of bAVM patients. The vessels in bAVM are fragile and prone to rupture, causing bleeding into the brain. About 30 % of unruptured and non-hemorrhagic bAVMs demonstrate microscopic evidence of hemosiderin in the vascular wall. In bAVM mouse models, vascular mural cell coverage is reduced in the AVM lesion, accompanied by vascular leakage and microhemorrhage. In this review, we discuss possible signaling pathways involved in abnormal vascular development in bAVM. PMID:26463919

  11. Pulmonary arteriovenous malformation embolization: how we do it.

    PubMed

    Greben, Craig R; Setton, Avi; Putterman, Daniel; Caplin, Drew; Lenner, Roberta; Gandras, Eric J

    2013-03-01

    We report our experience with an embolization technique that allows safe, controllable exclusion of pulmonary arteriovenous malformations using detachable coils, a single venous access site, coaxial catheter guidance, and 1 or 2 microcatheters. This technique is particularly useful when treating central lesions with a short feeding artery and when high flow increases the risk of coil migration and nontarget embolization. It affords precise placement and repositioning of coils prior to detachment. The technique facilitates safe and successful endovascular closure of these challenging lesions. PMID:23499130

  12. Osteopetrosis and Chiari type I malformation: a rare association

    PubMed Central

    Ekici, Mehmet Ali; C?kla, Ula?; Bauer, Andrew; Ba?kaya, Mustafa K.

    2015-01-01

    Osteopetrosis (OP) is hereditary X-linked, autosomal recessive (ARO), or autosomal dominant (ADO) skeletal disease. ARO has two subtypes, which are infantile malignant and intermediate type. ARO and X-linked OP have poor clinical outcome. ADO is called adult benign type because of the normal life expectancy, which has type I and type II. Here, the authors present an ADO patient with Chiari type I. Concomitant ADO with Chiari type I malformation is an extremely rare condition. Literature research yielded only one case report to date. PMID:26503583

  13. The anterior interhemispheric approach to a third ventricular cavernous malformation.

    PubMed

    Martirosyan, Nikolay L; Kalani, M Yashar S; Nakaji, Peter; Spetzler, Robert F

    2016-01-01

    The anterior interhemispheric approach is a workhorse for treatment of lesions in the third ventricle. In this case, we demonstrate the utility of this approach for resecting a complex third ventricular cavernous malformation. We discuss patient positioning, optimal location of the craniotomy, and surgical resection techniques for safe removal of these lesions. We also demonstrate the importance of gravity retraction using the falx to prevent injury to the dominant frontal lobe. The video can be found here: https://youtu.be/38woc28er7M . PMID:26722693

  14. NREM Sleep Parasomnia Associated with Chiari I Malformation

    PubMed Central

    Daftary, Ameet S.; Walker, James M.; Farney, Robert J.

    2011-01-01

    Parasomnias are common sleep disorders in children, and most cases resolve naturally by adolescence.1 They represent arousal disorders beginning in NREM sleep and are generally non-concerning in children. The diagnosis can usually be made by clinical assessment, and testing with polysomnography is not routinely indicated.2 However, in certain cases with atypical features, polysomnography and more extensive neurologic evaluation are medically indicated. Citation: Daftary AS; Walker JM; Farney RJ. NREM Sleep Parasomnia associated with Chiari I malformation. J Clin Sleep Med 2011;7(5):526-529. PMID:22003350

  15. Malformations of cortical development: 3T magnetic resonance imaging features

    PubMed Central

    Battal, Bilal; Ince, Selami; Akgun, Veysel; Kocaoglu, Murat; Ozcan, Emrah; Tasar, Mustafa

    2015-01-01

    Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images. PMID:26516429

  16. Congenital multi-organ malformations in a Holstein calf

    PubMed Central

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  17. The biological resolution of malformations of the central nervous system.

    PubMed

    McLone, D G

    1998-12-01

    It has been known for years that the assembly of the nervous system is under genetic control. During the last 10 years, the genes that direct the formation of the brain and spinal cord have begun to be discovered at an amazing pace. Mutations in the fruit fly and advances in molecular genetics have led the way. Gene mutations that cause many of the malformations of the human brain and spinal cord are now known. This has many physician-scientists hoping that an understanding of cause might lead to cure. PMID:9848852

  18. Transvenous Embolization of a Ruptured Deep Cerebral Arteriovenous Malformation

    PubMed Central

    Pereira, V.M.; Marcos-Gonzalez, A.; Radovanovic, I.; Bijlenga, P.; Narata, A.P.; Moret, J.; Schaller, K.; Lovblad, K.O.

    2013-01-01

    Summary Ruptured cerebral arteriovenous malformations (AVMs) usually require treatment to avoid re-bleeding. Depending on the angioarchitecture and center strategy, the treatment can be surgical, endovascular, radiosurgical or combined methods. The classic endovascular approach is transarterial, but sometimes it is not always applicable. The transvenous approach has been described as an alternative for the endovascular treatment of small AVMs when arterial access or another therapeutic method is not possible. This approach can be considered when the nidus is small and if there is a single draining vein. We present a technical note on a transvenous approach for the treatment of a ruptured AVM in a young patient. PMID:23472720

  19. Brain Arteriovenous Malformation Modeling, Pathogenesis and Novel Therapeutic Targets

    PubMed Central

    Chen, Wanqiu; Choi, Eun-Jung; McDougall, Cameron M.; Su, Hua

    2014-01-01

    Patients harboring brain arteriovenous malformation (bAVM) are at life-threatening risk of rupture and intracranial hemorrhage (ICH). The pathogenesis of bAVM has not been completely understood. Current treatment options are invasive and ? 20% of patients are not offered interventional therapy because of excessive treatment risk. There are no specific medical therapies to treat bAVMs. The lack of validated animal models has been an obstacle for testing hypotheses of bAVM pathogenesis and testing new therapies. In this review, we summarize bAVM model development; and bAVM pathogenesis and potential therapeutic targets that have been identified during model development. PMID:24723256

  20. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

    PubMed

    Lederer, Damien; Shears, Debbie; Benoit, Valérie; Verellen-Dumoulin, Christine; Maystadt, Isabelle

    2014-05-01

    Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki-like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X-linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A. PMID:24664873

  1. Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome.

    PubMed

    Larhant, Matthieu; Sourice, Sophie; Grimaud, Fanny; Cordoba, Luis; Leveau, Sophie; Huet, Pascal; Corre, Pierre; Khonsari, Roman Hossein

    2014-06-01

    Radiculomegaly affecting incisors, canines or premolars is a rare radiological finding (Maden et al., 2010) but is pathognomomic of a rare x-linked dominant syndrome called oculo-facio-cardio-dental syndrome (OFCDS). As this syndrome includes cardiac malformations and can lead to blindness due to congenital glaucoma, oral and maxillofacial surgeons should be aware of the somatic anomalies potentially associated with radiculomegaly. We report a typical case of OFCDS and provide the first description of the microscopic dental anomalies associated with this syndrome. PMID:23827343

  2. "One More for My Baby": Foetal Alcohol Syndrome and Its Implications for Social Workers

    ERIC Educational Resources Information Center

    Cousins, Wendy; Wells, Karen

    2005-01-01

    Foetal alcohol syndrome has been described as the commonest preventable cause of mental retardation in the Western world. It refers to a pattern of malformations, growth retardation and central nervous system impairments found in children of mothers who drink large amounts of alcohol while they are pregnant. This paper describes the nature of…

  3. Speech and Language in Wolf-Hirschhorn Syndrome: A Case-Study

    ERIC Educational Resources Information Center

    Van Borsel, John; De Grande, Sigrid; Van Buggenhout, Griet; Fryns, Jean-Pierre

    2004-01-01

    Wolf-Hirschhorn syndrome (WHS), a condition resulting from a distal deletion of the short arm of chromosome 4, is usually associated with a severe phenotypic expression including multiple malformations, delayed psychomotor development, and profound learning disabilities. As far as communicative development is concerned, speech is usually absent…

  4. "One More for My Baby": Foetal Alcohol Syndrome and Its Implications for Social Workers

    ERIC Educational Resources Information Center

    Cousins, Wendy; Wells, Karen

    2005-01-01

    Foetal alcohol syndrome has been described as the commonest preventable cause of mental retardation in the Western world. It refers to a pattern of malformations, growth retardation and central nervous system impairments found in children of mothers who drink large amounts of alcohol while they are pregnant. This paper describes the nature of…

  5. [Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].

    PubMed

    Andersen, María Soledad; Menazzi, Sebastián; Brun, Paloma; Cocah, Cecilia; Merla, Giuseppe; Solari, Andrea

    2014-02-01

    Kabuki syndrome is a genetic entity with multiple anomalies associated with intellectual disability. The clinical diagnosis is based on typical facial features, minor skeletal abnormalities, finger pads, and postnatal growth deficit. Other findings may include congenital heart disease, genitourinary anomalies, oral clefts, anal atresia, increased susceptibility to infections, autoimmune and endocrine disease and hearing loss. The objective of this paper is to describe two patients with clinical diagnosis of Kabuki syndrome, highlighting the phenotypic findings and associated malformations. PMID:24566779

  6. Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot.

    PubMed

    Bhardwaj, M; Grange, C

    2013-07-01

    Carpenter syndrome is an extremely rare congenital disorder characterized by craniofacial malformations, syndactyly, cardiac defects and obesity. Even after surgical correction of cardiac abnormalities, intrapartum care of a parturient with this condition can be challenging because of progression of residual cardiac defects compounded by the haemodynamic changes of pregnancy. We describe the anaesthetic management for caesarean section of a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Additional complicating issues included worsening cardiac function, asthma, needle-phobia and osteoarthritis. PMID:23706836

  7. Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy

    PubMed Central

    Rad, Elaheh Malakan

    2014-01-01

    Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited. PMID:25298700

  8. Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome

    PubMed Central

    Lal, Niharika R.; Bandyopadhyay, Debabrata; Sarkar, Asim K.

    2015-01-01

    Proteus syndrome is a rare condition with a wide spectrum of abnormalities. It is characterized by hamartomatous malformations involving multiple organs. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms such as parotid adenomas, ovarian cystadenomas, and meningiomas. We report here a case of Proteus syndrome in a 21-year-old woman who had facial hemihypertrophy, cerebriform plantar hyperplasia, hemimegalencephaly, and meningioma for the rarity of the entity. PMID:26500869

  9. Poland syndrome involving the left hemithorax with dextrocardia and herniation of the spleen

    PubMed Central

    Panda, Shasanka Shekhar; Bajpai, Minu; Singh, Amit; Jana, Manisha

    2014-01-01

    Poland syndrome is characterised by unilateral absence of the large pectoral muscle, ipsilateral symbrachydactyly and occasionally other malformations of the anterior chest wall and breast. The condition is more frequent among men and usually occurs on the right hemithorax in the unilateral form. This case is unique because we believe it is a rare case of Poland syndrome involving the left hemithorax along with dextrocardia and herniation of the spleen from the left subcostal region. PMID:24567179

  10. Unilateral hypertrophic skin lesions, hemimegalencephaly, and meningioma: The many faces of Proteus syndrome.

    PubMed

    Lal, Niharika R; Bandyopadhyay, Debabrata; Sarkar, Asim K

    2015-01-01

    Proteus syndrome is a rare condition with a wide spectrum of abnormalities. It is characterized by hamartomatous malformations involving multiple organs. Serious complications may ensue, such as pulmonary embolism, cystic lung disease, and various neoplasms such as parotid adenomas, ovarian cystadenomas, and meningiomas. We report here a case of Proteus syndrome in a 21-year-old woman who had facial hemihypertrophy, cerebriform plantar hyperplasia, hemimegalencephaly, and meningioma for the rarity of the entity. PMID:26500869

  11. Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

    PubMed Central

    González-Andrade, Fabricio; López-Pulles, Ramiro

    2010-01-01

    Aim This study sets out (a) to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b) to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class. Methods The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry. Results A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR) of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9%) and 7053 were female (42.1%). BPR in males was 40.45 and in females 30.40. Conclusion This report documents the prevalence estimates for birth defects reported in the hospital discharge data. These estimates are important to 1) plan for health-care and education needs of the Ecuadorian population, 2) identify increased occurrences of birth defects in specific geographic regions, 3) serve as a reference point for assessment of provincial surveillance systems, 4) evaluate national public health interventions, 5) compare Ecuador prevalence estimates with those of other countries, and 6) help determine the appropriate allocation of resources for basic and public health research. There is an urgent need to establish a National Registry of Birth Defects involving different sources of information such as prenatal medical records, birth records and medical records during the first year of life at an early stage, and surveys on cytogenetic prenatal diagnostic surveys and cytogenetics of therapeutic abortions. PMID:23776361

  12. Case Report: Atypical Cornelia de Lange Syndrome

    PubMed Central

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2015-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  13. Down Syndrome and thyroid gland.

    PubMed

    Hasanhodzi?, Mensuda; Tahirovi?, Husref; Lukinac, Ljerka

    2006-08-01

    Down Syndrome (DS) or trisomy 21 (T21) is the most frequent and the best known malformation syndrome associated with mental deficiency that appears in human,. Average incidence of this syndrome is about 1:700 newborns. Numerous researchers noted thyroid disorders in people with Down Syndrome but, clinical symptoms of thyroid dysfunction are difficult to separate from DS phenotype. The aim of this study was to examine the thyroid function in the patients with DS. Our results confirmed higher frequency of thyroid dysfunction in DS patients. Higher values of TSH were found in 60,34% of the examined DS patients, which is significantly higher value comparing with the control group (p<0,01). Compensated hypothyroidism was established in 27,92% of the examined DS patients, and most of those (63,23%) were younger than 6 years. The conclusions emphasize the necessity of implementation of thyroid function screening program in persons with DS, and the need for adequate treatment of its dysfunction. Thus, the symptoms of the disease would be alleviated and better physical and mental fitness ensured. PMID:16995846

  14. Refined localization of the Prieto-syndrome locus

    SciTech Connect

    Martinez, F.; Prieto, F.; Gal, A.

    1996-07-12

    PRS designates the locus for a syndromal form of X-linked mental retardation (Prieto syndrome) characterized by minor facial anomalies, ear malformation, abnormal growth of teeth, clinodactyly, sacral dimple, patellar luxation, malformation of lower limbs, abnormalities of the fundus of the eye, and subcortical cerebral atrophy. Linkage analysis localized the disease locus between DXS84 (Xp21.1) and DXS255. Here we present additional linkage data that provide further support and refinement of this localization. Individual III-18 gave birth to a male, currently aged 2 7/12 years, who clearly shows delayed psychomotor development. He began to walk at 23 months and his speech is delayed. In addition, he shows the characteristic facial anomalies, {open_quotes}dysplastic{close_quotes} ears, sacral dimple, and clinodactyly, as do all other affected males in this family. 7 refs., 1 tab.

  15. Medullary Sponge Kidney and Testicular Dysgenesis Syndrome: A Rare Association

    PubMed Central

    Masciovecchio, Stefano; Saldutto, Pietro; Paradiso Galatioto, Giuseppe; Vicentini, Carlo

    2014-01-01

    The medullary sponge kidney is also known as Lenarduzzi's kidney or Cacchi and Ricci's disease from the first Italian authors who described its main features. A review of the scientific literature underlines particular rarity of the association of MSK with developmental abnormalities of the lower urinary tract and genital tract such as hypospadias and bilateral cryptorchidism. The work presented is the only one in the scientific literature that shows the association between the medullary sponge kidney and the testicular dysgenesis syndrome. A question still remains unanswered: are the MSK and TDS completely independent malformation syndromes occurring, in this case, simultaneously for a rare event or are they different phenotypic expressions of a common malformative mechanism? In the future we hope that these questions will be clarified. PMID:24716085

  16. Ivemark syndrome-a rare entity with specific anatomical features.

    PubMed

    Hrusca, Adrian; Rachisan, Andreea Liana; Lucian, Bogdan; Oprita, Simona; Manole, Simona; Cainap, Simona

    2015-03-01

    Ivemark syndrome (IS) is a rare embryological disorder which results from failure of development of the left-right asymmetry of organs. It is often associated with cardiac and other organ abnormalities, which are the usual causes of death in early neonatal life. We report a 3 months old girl with IS with dextrocardia, transposition of the great vessels, atrio-ventricular connection, total anomalous pulmonary venous drainage, a right atrial and right pulmonary isomerism, a midline liver, a midline gallbladder, asplenia, intestinal malrotation and vena cava anomalies. To our knowledge, complete right heterotaxia syndrome has been rarely described in literature. Lateralization defects such as situs inversus, asplenia or polysplenia due to defective left-right axis development are considered as defects of the primary developmental field. Therefore, additional malformations in IS can be synchronic defects in the primary developmental field rather than causally independent malformations. PMID:26005826

  17. Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations

    PubMed Central

    Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A.S.; Duhoux, François P.; Wassef, Michel; Enjolras, Odile; Mulliken, John B.; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M.; Vikkula, Miikka

    2013-01-01

    Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson’s two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1–1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes. PMID:23375657

  18. Cerebral cavernous malformation: new molecular and clinical insights

    PubMed Central

    Revencu, N; Vikkula, M

    2006-01-01

    Cerebral cavernous malformation (CCM) is a vascular malformation causing neurological problems, such as headaches, seizures, focal neurological deficits, and cerebral haemorrhages. CCMs can occur sporadically or as an autosomal dominant condition with variable expression and incomplete penetrance. Familial forms have been linked to three chromosomal loci, and loss of function mutations have been identified in the KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3 genes. Recently, many new pieces of data have been added to the CCM puzzle. It has been shown that the three CCM genes are expressed in neurones rather than in blood vessels. The interaction between CCM1 and CCM2, which was expected on the basis of their structure, has also been proven, suggesting a common functional pathway. Finally, in a large series of KRIT1 mutation carriers, clinical and neuroradiological features have been characterised. These data should lead to more appropriate follow up, treatment, and genetic counselling. The recent developments will also help to elucidate the precise pathogenic mechanisms leading to CCM, contributing to a better understanding of normal and pathological angiogenesis and to the development of targeted treatment. PMID:16571644

  19. Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.

    PubMed

    Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A S; Duhoux, François P; Wassef, Michel; Enjolras, Odile; Mulliken, John B; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M; Vikkula, Miikka

    2013-02-01

    Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson's two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1-1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes. PMID:23375657

  20. Morphological and functional aspects of progenitors perturbed in cortical malformations

    PubMed Central

    Bizzotto, Sara; Francis, Fiona

    2015-01-01

    In this review, we discuss molecular and cellular mechanisms important for the function of neuronal progenitors during development, revealed by their perturbation in different cortical malformations. We focus on a class of neuronal progenitors, radial glial cells (RGCs), which are renowned for their unique morphological and behavioral characteristics, constituting a key element during the development of the mammalian cerebral cortex. We describe how the particular morphology of these cells is related to their roles in the orchestration of cortical development and their influence on other progenitor types and post-mitotic neurons. Important for disease mechanisms, we overview what is currently known about RGC cellular components, cytoskeletal mechanisms, signaling pathways and cell cycle characteristics, focusing on how defects lead to abnormal development and cortical malformation phenotypes. The multiple recent entry points from human genetics and animal models are contributing to our understanding of this important cell type. Combining data from phenotypes in the mouse reveals molecules which potentially act in common pathways. Going beyond this, we discuss future directions that may provide new data in this expanding area. PMID:25729350