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1

Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.  

PubMed

Here, we report the neuroimaging findings and neurological changes in 17 unpublished patients with Macrocephaly-Capillary Malformation (M-CM). This syndrome has been traditionally known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita (M-CMTC), but we explain why M-CM is a more accurate term for this overgrowth syndrome. We analyzed the 17 patients with available brain MRI or CT scans and compared their findings with features identified by a comprehensive review of published cases. White matter irregularities with increased signal on T2-weighted images were commonly observed findings. A distinctive feature in more than half the patients was cerebellar tonsillar herniation associated with rapid brain growth and progressive crowding of the posterior fossa during infancy. In four such cases, we confirmed that the tonsillar herniation was an acquired event. Concurrently, with the development of these findings, ventriculomegaly (frequently obstructive) and dilated dural venous sinuses were observed in conjunction with prominent Virchow-Robin spaces in many of those in whom cerebellar tonsil herniation had developed. We postulate that this constellation of unusual features suggests a dynamic process of mechanical compromise in the posterior fossa, perhaps initiated by a rapidly growing cerebellum, which leads to congestion of the venous drainage with subsequently compromised cerebrospinal fluid reabsorption, all of which increases the posterior fossa pressure and leads to acquired tonsillar herniation. We make a distinction between congenital Chiari I malformation and acquired cerebellar tonsil herniation in this syndrome. We also observed numerous examples of abnormal cortical morphogenesis, including focal cortical dysplasia, polymicrogyria which primarily involved the perisylvian and insular regions, and cerebral and/or cerebellar asymmetric overgrowth. Other findings included a high frequency of cavum septum pellucidum or vergae, thickened corpus callosum, prominent optic nerve sheaths and a single case of venous sinus thrombosis. One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. This is the second apparent occurrence of this specific tumor in M-CM. PMID:18000912

Conway, Robert L; Pressman, Barry D; Dobyns, William B; Danielpour, Moise; Lee, John; Sanchez-Lara, Pedro A; Butler, Merlin G; Zackai, Elaine; Campbell, Lindsey; Saitta, Sulagna C; Clericuzio, Carol L; Milunsky, Jeff M; Hoyme, H Eugene; Shieh, Joseph; Moeschler, John B; Crandall, Barbara; Lauzon, Julie L; Viskochil, David H; Harding, Brian; Graham, John M

2007-12-15

2

Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.  

PubMed

The macrocephaly-capillary malformation syndrome (M-CM), which we here propose to rename the megalencephaly-capillary malformation syndrome (MCAP; alternatively the megalencephaly-capillary malformation-polymicrogyria syndrome), and the more recently described megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) are two megalencephaly (MEG) disorders that involve a unique constellation of physical and neuroimaging anomalies. We compare the features in 42 patients evaluated for physical and neuroimaging characteristics of MCAP and MPPH and propose a more global view of these syndromes based on classes of developmental abnormalities that include primary MEG and growth dysregulation, developmental vascular anomalies (primarily capillary malformations), distal limb anomalies (such as syndactyly and polydactyly), cortical brain malformations (most distinctively polymicrogyria, PMG), and variable connective tissue dysplasia. Based on these classes of developmental abnormalities, we propose that MCAP diagnostic criteria include progressive MEG with either vascular anomalies or syndactyly. In parallel, we propose that MPPH diagnostic criteria include progressive MEG and PMG, absence of the vascular anomalies and syndactyly characteristic of MCAP, and absence of brain heterotopia. PMID:22228622

Mirzaa, Ghayda M; Conway, Robert L; Gripp, Karen W; Lerman-Sagie, Tally; Siegel, Dawn H; deVries, Linda S; Lev, Dorit; Kramer, Nancy; Hopkins, Elizabeth; Graham, John M; Dobyns, William B

2012-02-01

3

Genetics Home Reference: Megalencephaly-capillary malformation syndrome  

MedlinePLUS

... Recent literature OMIM Genetic disorder catalog Conditions > Megalencephaly-capillary malformation syndrome On this page: Description Genetic changes ... Glossary definitions Reviewed February 2014 What is ... malformation syndrome? Megalencephaly-capillary malformation syndrome (MCAP) is ...

4

The microcephaly-capillary malformation syndrome.  

PubMed

We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301-306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome. PMID:21815250

Mirzaa, Ghayda M; Paciorkowski, Alex R; Smyser, Christopher D; Willing, Marcia C; Lind, Anne C; Dobyns, William B

2011-09-01

5

The Microcephaly-Capillary Malformation Syndrome  

PubMed Central

We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome. PMID:21815250

Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.

2012-01-01

6

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

PubMed

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

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

2015-01-01

7

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

PubMed Central

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

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

2015-01-01

8

Malformations Among the X-Linked Intellectual Disability Syndromes  

PubMed Central

Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. PMID:24166814

Stevenson, Roger E.; Schwartz, Charles E.; Rogers, R. Curtis

2013-01-01

9

Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype  

PubMed Central

Background: Oculocerebrocutaneous syndrome (OCCS) is characterised by orbital cysts and anophthalmia or microphthalmia, focal aplastic or hypoplastic skin defects, skin appendages, and brain malformations. The eye and skin abnormalities are well described but the neuropathological features less so. To date, 28 patients with an unequivocal diagnosis of OCCS have been reported, with a preponderance of males. Objective: To evaluate the brain imaging studies, clinical records, photographs, and pathological material of two new and nine previously reported cases of OCCS. Results: There was a consistent pattern of malformations in eight of the 11 cases, consisting of frontal predominant polymicrogyria and periventricular nodular heterotopia, enlarged lateral ventricles or hydrocephalus, agenesis of the corpus callosum sometimes associated with interhemispheric cysts, and a novel mid-hindbrain malformation. The latter consisted of a giant and dysplastic tectum, absent cerebellar vermis, small cerebellar hemispheres in most cases, and a large posterior fossa fluid collection. Conclusions: The mid-hindbrain malformation appears pathognomonic for OCCS. The eye and skin features of OCCS show considerable overlap with several other syndromes, such as encephalocraniocutaneous lipomatosis, oculo-auriculo-vertebral spectrum, and focal dermal hypoplasia, none of which has a comparable pattern of brain malformations. In particular the unique mid-hindbrain malformation also distinguishes OCCS from related syndromes with comparable forebrain anomalies. The pattern of malformation described thus helps in differentiating OCCS from other entities. The mid-hindbrain malformation points to a defect of the mid-hindbrain organiser as the underlying pathogenic mechanism. PMID:15879499

Moog, U; Jones, M; Bird, L; Dobyns, W

2005-01-01

10

Contracted foal syndrome associated with multiple malformations in two foals.  

PubMed

Congenital anomalies in horses are very rare, and contracted foal syndrome is one of the most commonly reported. This malformation is characterized by contraction of the joints of the forelimbs and/or hindlimbs. In addition, the syndrome can be characterized by vertebral column malformations, such as scoliosis or torticollis, and cranial deformity. The present report describes the radiological and necroscopical findings of multiple rare malformations in two foals. Both foals showed skeletal abnormalities and fenestration of the abdominal cavity. Other pathological findings include a interventricular septal defect in one and a unilateral hydronephrosis and partial hydroureter in the other foal. Although in this report a specific aetiology could not be provided, insecticides treatment provided during the second month of pregnancy might play a role in the pathogenesis of these malformations. PMID:23406278

Binanti, D; Zani, D D; De Zani, D; Turci, T; Zavaglia, G; Riccaboni, P

2014-02-01

11

Cardiovascular malformations in Turner's and Noonan's syndrome.  

PubMed Central

The cardiovascular findings in 9 patients with Turner's syndrome and 9 patients with Noonan's syndrome are described. Of the 9 patients with Turner's syndrome, 4 had coarctation of the aorta, 4 aorta stenosis, and the remaining patient both these lesions. All patients with Noonan's syndrome had pulmonary valve stenosis. In addition, 2 children had an atrial septal defect and 1 an atrial septal defect associated with mild supravalvar pulmonary stenosis and anomalous drainage of the right upper pulmonary veins. In the majority of patients the electrocardiogram was different from the pattern usually seen in pulmonary valve stenosis: the QRS axis in the frontal plane was superiorly oriented in 7 out of 9 cases and in 2 patients evidence of right ventricular hypertrophy was lacking in the right praecordial leads; in 5 patients an rS complex was seen in the left praecordial leads. Gross thickening of pulmonary valve cusps was found at operation in 4 of the 8 patients who were operated on. Although phenotypically related, Turner's and Noonan's syndromes are associated with different and distinct cardiovascular anomalies. Images PMID:656215

Van der Hauwaert, L G; Fryns, J P; Dumoulin, M; Logghe, N

1978-01-01

12

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

ERIC Educational Resources Information Center

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…

Aggarwal, Vimla S.; Morrow, Bernice E.

2008-01-01

13

Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.  

PubMed

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

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

2015-02-01

14

Malformation syndromes caused by disorders of cholesterol synthesis  

PubMed Central

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

Porter, Forbes D.; Herman, Gail E.

2011-01-01

15

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

PubMed

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

Geerinckx, I; Willemsen, W; Hanselaar, T

2001-12-10

16

Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation  

Microsoft Academic Search

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome. 14 refs., 6 figs., 1 tab.

Jeanette C. Ramer; R. L. Ladda; A. E. Lin; Robin Winter; Ségolène Aymé; Rosanna Pallotta

1995-01-01

17

Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation  

SciTech Connect

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome. 14 refs., 6 figs., 1 tab.

Ramer, J.C.; Ladda, R.L. [Pennsylvania State Univ. Hospital, Hershey, PA (United States); Lin, A.E. [Francisco Children`s Hospital, Boston, MA (United States)] [and others

1995-07-03

18

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

PubMed

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

Tosi, B; Maestro, S; Marcheschi, M

1995-10-01

19

Acroangiodermatitis Mali resulting from arteriovenous malformation: report of a case of Stewart-Bluefarb syndrome.  

PubMed

We describe the rare Stewart-Bluefarb syndrome in a 15-year-old boy. This syndrome presents as a congenital arteriovenous malformation of the lower leg with multiple arteriovenous shunts accompanied by the benign acroangiodermatitis of Mali (pseudo-Kaposi's sarcoma). The clinical features of this disorder and the treatment options are reviewed. PMID:17927784

Zutt, M; Emmert, S; Moussa, I; Haas, E; Mitteldorf, C; Bertsch, H P; Neumann, C

2008-01-01

20

Genetics Home Reference: Microcephaly-capillary malformation syndrome  

MedlinePLUS

... 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 ; ...

21

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

PubMed

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

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

2006-01-01

22

Chiari malformation, cervical spine anomalies, and neurologic deficits in velocardiofacial syndrome.  

PubMed

The purpose of this investigation was to evaluate the prevalence of Chiari malformation, cervical spine anomalies, and neurologic deficits in patients with velocardio-facial syndrome. This study was a prospective evaluation of 41 consecutive patients with velocardiofacial syndrome, documented by fluorescence in situ hybridization, between March of 1994 and September of 1998. The 23 girls and 18 boys ranged in age from 0.5 to 15.2 years, with a mean age of 6.7 years. Nineteen patients were assessed with magnetic resonance imaging, 39 underwent lateral cephalometric radiography, and all patients were examined for neurologic deficits. Eight of 19 patients (42 percent) had anomalies of the craniovertebral junction, including Chiari type I malformations (n = 4), occipitalization of the atlas (n = 3), and narrowing of the foramen magnum (n = 1). One patient with Chiari malformation required suboccipital craniectomy with laminectomy and decompression. Fourteen of 41 patients (34 percent) had demonstrated neurologic deficits; 10 patients (24 percent) had velar paresis (6 unilateral and 4 bilateral). Chiari malformations, cervical spine anomalies, and neurologic deficits are common in velocardiofacial syndrome. Because these findings may influence the outcome of surgical intervention, routine assessment of patients with velocardiofacial syndrome should include careful orofacial examination, lateral cephalometric radiography, and magnetic resonance imaging of the craniovertebral junction. PMID:10883607

Hultman, C S; Riski, J E; Cohen, S R; Burstein, F D; Boydston, W R; Hudgins, R J; Grattan-Smith, D; Uhas, K; Simms, C

2000-07-01

23

Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).  

PubMed Central

Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot. Images PMID:7426208

Moerman, P; Goddeeris, P; Lauwerijns, J; Van der Hauwaert, L G

1980-01-01

24

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

PubMed Central

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/, /?/, /?/, /?/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed. PMID:24478819

Pruszewicz, Antoni; Wiskirska-Wo?nica, Bo?ena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmu?, Ma?gorzata; Szyfter, Krzysztof; Leszczy?ska, Ma?gorzata

2014-01-01

25

Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes  

PubMed Central

Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation, and musculoskeletal anomalies. The inheritance is autosomal recessive. No diagnostic cytogenetic abnormalities have been documented in affected patients, and no molecular genetic studies have been reported. We have reviewed 117 cases diagnosed as Fraser syndrome or cryptophthalmos published since the comprehensive review of Thomas et al in 1986 in order to validate the published diagnostic criteria and to delineate the phenotype associated with this syndrome. Our series showed more females (57/117) than males and consanguinity was present in 29/119 (24.8%). Eighty-eight patients satisfied the diagnostic criteria for Fraser syndrome (75%). Cryptophthalmos was present in 103/117 (88%), syndactyly in 72/117 (61.5%), and ambiguous genitalia in 20/117 (17.1%). Ear malformations were recorded in 69/117 (59%), and renal agenesis in 53/117 (45.3%). Use of the published diagnostic criteria excluded several patients with cryptophthalmos and one or more physical feature(s) consistent with Fraser syndrome. The frequency of additional anomalies in our series was also higher than previously reported (for example, imperforate anus or anal stenosis were found in 34/117 (29%) compared with 2/124 (2%) in the series of Thomas et al (1986) and choanal stenosis or atresia was present in 7/117 (6%) compared to 0/124. These findings emphasise the clinical variability associated with Fraser syndrome and support genetic heterogeneity of the syndrome. We also noted patterns of anomalies (for example, bicornuate uterus with imperforate anus or anal stenosis and renal malformations) that are found in other syndromes and associations without cryptophthalmos, suggesting that common modifier genes may explain some of the phenotypic variation in Fraser syndrome. PMID:12205104

Slavotinek, A; Tifft, C

2002-01-01

26

Description, Nomenclature, and Mapping of a Novel Cerebello-Renal Syndrome with the Molar Tooth Malformation  

PubMed Central

Cerebello-oculo-renal syndromes (CORSs) and Joubert syndrome (JS) are clinically and genetically heterogeneous autosomal recessive syndromes that share a complex neuroradiological malformation resembling a molar tooth on brain axial images, a condition referred to as “molar tooth on imaging” (MTI) or the “molar tooth sign.” The current literature on these syndromes is complex, with overlapping and incomplete phenotypes that complicate the selection of clinically homogeneous cases for genetic purposes. So far, only one locus (JBTS1 on 9q34) has been mapped, in two families with JS. Here, we describe a large consanguineous family with JS and nephronophthisis, representing a novel cerebello-renal phenotype. We have mapped this condition to the pericentromeric region of chromosome 11 and have named the locus “CORS2.” The acronym “CORS” is proposed for all loci associated with JS, CORSs, and related phenotypes sharing the MTI, because this neuroradiological sign seems to be the unifying feature of these clinically heterogeneous syndromes. PMID:12908130

Valente, Enza Maria; Salpietro, Damiano Carmelo; Brancati, Francesco; Bertini, Enrico; Galluccio, Tiziana; Tortorella, Gaetano; Briuglia, Silvana; Dallapiccola, Bruno

2003-01-01

27

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.  

PubMed

Microcephaly-capillary malformation (MIC-CAP) syndrome is characterized by severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay and multiple small capillary malformations on the skin. We used whole-exome sequencing of five patients with MIC-CAP syndrome and identified recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein, also known as AMSH, associated molecule with the SH3 domain of STAM) that has a key role in cell surface receptor-mediated endocytosis and sorting. Patient cell lines showed reduced STAMBP expression associated with accumulation of ubiquitin-conjugated protein aggregates, elevated apoptosis and insensitive activation of the RAS-MAPK and PI3K-AKT-mTOR pathways. The latter cellular phenotype is notable considering the established connection between these pathways and their association with vascular and capillary malformations. Furthermore, our findings of a congenital human disorder caused by a defective DUB protein that functions in endocytosis implicates ubiquitin-conjugate aggregation and elevated apoptosis as factors potentially influencing the progressive neuronal loss underlying MIC-CAP syndrome. PMID:23542699

McDonell, Laura M; Mirzaa, Ghayda M; Alcantara, Diana; Schwartzentruber, Jeremy; Carter, Melissa T; Lee, Leo J; Clericuzio, Carol L; Graham, John M; Morris-Rosendahl, Deborah J; Polster, Tilman; Acsadi, Gyula; Townshend, Sharron; Williams, Simon; Halbert, Anne; Isidor, Bertrand; David, Albert; Smyser, Christopher D; Paciorkowski, Alex R; Willing, Marcia; Woulfe, John; Das, Soma; Beaulieu, Chandree L; Marcadier, Janet; Geraghty, Michael T; Frey, Brendan J; Majewski, Jacek; Bulman, Dennis E; Dobyns, William B; O'Driscoll, Mark; Boycott, Kym M

2013-05-01

28

Upper limb malformations in DiGeorge syndrome  

SciTech Connect

We report on upper limb anomalies in two children with a complete DiGeorge sequence: conotruncal defects, hypocalcemia, thymic aplasia, and facial anomalies. One child had preaxial polydactyly, and the other had club hands with hypoplastic first metacarpal. In both patients, molecular analysis documented a 22q11 deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22q11 deletions. 13 refs., 2 figs.

Cormier-Daire, V.; Iserin, L.; Sidi, D. [and others

1995-03-13

29

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome  

PubMed Central

Microcephaly-capillary malformation (MIC-CAP) syndrome exhibits severe microcephaly with progressive cortical atrophy, intractable epilepsy, profound developmental delay and multiple small capillary malformations on the skin. We employed whole-exome sequencing of five patients with MIC-CAP syndrome and identified novel recessive mutations in STAMBP, a gene encoding the deubiquitinating (DUB) isopeptidase STAMBP (STAM-binding protein)/AMSH (Associated Molecule with the SH3 domain of STAM), that plays a key role in cell surface receptor-mediated endocytosis and sorting. Patient cell lines showed reduced STAMBP expression associated with accumulation of ubiquitin-conjugated protein aggregates, elevated apoptosis and insensitive activation of the RAS-MAPK and PI3K-AKT-mTOR pathways. The latter cellular phenotype is significant considering the established connection between these pathways and their association with vascular and capillary malformations. Furthermore, our findings of a congenital human disorder caused by a defective DUB protein that functions in endocytosis, implicates ubiquitin-conjugate aggregation and elevated apoptosis as factors potentially influencing the progressive neuronal loss underlying MIC-CAP. PMID:23542699

McDonell, Laura M.; Mirzaa, Ghayda M.; Alcantara, Diana; Schwartzentruber, Jeremy; Carter, Melissa T.; Lee, Leo J.; Clericuzio, Carol L.; Graham, John M.; Morris-Rosendahl, Deborah J.; Polster, Tilman; Acsadi, Gyula; Townshend, Sharron; Williams, Simon; Halbert, Anne; Isidor, Bertrand; Smyser, Christopher D.; Paciorkowski, Alex R.; Willing, Marcia; Woulfe, John; Das, Soma; Beaulieu, Chandree L.; Marcadier, Janet; Geraghty, Michael T.; Frey, Brendan J.; Majewski, Jacek; Bulman, Dennis E.; Dobyns, William B.; O’Driscoll, Mark; Boycott, Kym M.

2014-01-01

30

A Case of Swyer-James-Macleod Syndrome Associated with Middle Lobe Hypoplasia and Arteriovenous Malformation  

PubMed Central

A 58-year-old female patient presented to the hospital with hearing loss. In the chest radiography obtained before her ear surgery, volume decrease in the right hemithorax, elevation of the right diaphragm, and increase of ventilation in the right lung were detected. At the thorax CT-CT angiography, hypoplasia of the main pulmonary artery and its branches and arteriovenous malformation localized in the middle lobe of the right lung were detected. Thus, diagnosis of Swyer-James-Macleod syndrome associated with right lung middle lobe hypoplasia and arteriovenous malformation was made. This kind of association has not been reported earlier, so we are presenting it in the light of the literature knowledge. PMID:23304165

Kaplanoglu, Hatice; Kaplanoglu, Veysel; Toprak, Ugur; Dilli, Alper; Hekimoglu, Baki

2012-01-01

31

A case of swyer-james-macleod syndrome associated with middle lobe hypoplasia and arteriovenous malformation.  

PubMed

A 58-year-old female patient presented to the hospital with hearing loss. In the chest radiography obtained before her ear surgery, volume decrease in the right hemithorax, elevation of the right diaphragm, and increase of ventilation in the right lung were detected. At the thorax CT-CT angiography, hypoplasia of the main pulmonary artery and its branches and arteriovenous malformation localized in the middle lobe of the right lung were detected. Thus, diagnosis of Swyer-James-Macleod syndrome associated with right lung middle lobe hypoplasia and arteriovenous malformation was made. This kind of association has not been reported earlier, so we are presenting it in the light of the literature knowledge. PMID:23304165

Kaplanoglu, Hatice; Kaplanoglu, Veysel; Toprak, Ugur; Dilli, Alper; Hekimoglu, Baki

2012-01-01

32

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.  

PubMed

Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have balanced translocations that disrupt NFIA. A third individual and two half-siblings in an unrelated family have interstitial microdeletions that include NFIA. All five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux. Other genes are also broken or deleted in all five individuals, and may contribute to the phenotype. However, the only common genetic defect is NFIA haploinsufficiency. In addition, previous analyses of Nfia(-/-) knockout mice indicate that Nfia deficiency also results in hydrocephalus and agenesis of the corpus callosum. Further investigation of the mouse Nfia(+/-) and Nfia(-/-) phenotypes now reveals that, at reduced penetrance, Nfia is also required in a dosage-sensitive manner for ureteral and renal development. Nfia is expressed in the developing ureter and metanephric mesenchyme, and Nfia(+/-) and Nfia(-/-) mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter. Collectively, the mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects. PMID:17530927

Lu, Weining; Quintero-Rivera, Fabiola; Fan, Yanli; Alkuraya, Fowzan S; Donovan, Diana J; Xi, Qiongchao; Turbe-Doan, Annick; Li, Qing-Gang; Campbell, Craig G; Shanske, Alan L; Sherr, Elliott H; Ahmad, Ayesha; Peters, Roxana; Rilliet, Benedict; Parvex, Paloma; Bassuk, Alexander G; Harris, David J; Ferguson, Heather; Kelly, Chantal; Walsh, Christopher A; Gronostajski, Richard M; Devriendt, Koenraad; Higgins, Anne; Ligon, Azra H; Quade, Bradley J; Morton, Cynthia C; Gusella, James F; Maas, Richard L

2007-05-25

33

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects  

PubMed Central

Complex central nervous system (CNS) malformations frequently coexist with other developmental abnormalities, but whether the associated defects share a common genetic basis is often unclear. We describe five individuals who share phenotypically related CNS malformations and in some cases urinary tract defects, and also haploinsufficiency for the NFIA transcription factor gene due to chromosomal translocation or deletion. Two individuals have balanced translocations that disrupt NFIA. A third individual and two half-siblings in an unrelated family have interstitial microdeletions that include NFIA. All five individuals exhibit similar CNS malformations consisting of a thin, hypoplastic, or absent corpus callosum, and hydrocephalus or ventriculomegaly. The majority of these individuals also exhibit Chiari type I malformation, tethered spinal cord, and urinary tract defects that include vesicoureteral reflux. Other genes are also broken or deleted in all five individuals, and may contribute to the phenotype. However, the only common genetic defect is NFIA haploinsufficiency. In addition, previous analyses of Nfia?/? knockout mice indicate that Nfia deficiency also results in hydrocephalus and agenesis of the corpus callosum. Further investigation of the mouse Nfia+/? and Nfia?/? phenotypes now reveals that, at reduced penetrance, Nfia is also required in a dosage-sensitive manner for ureteral and renal development. Nfia is expressed in the developing ureter and metanephric mesenchyme, and Nfia+/? and Nfia?/? mice exhibit abnormalities of the ureteropelvic and ureterovesical junctions, as well as bifid and megaureter. Collectively, the mouse Nfia mutant phenotype and the common features among these five human cases indicate that NFIA haploinsufficiency contributes to a novel human CNS malformation syndrome that can also include ureteral and renal defects. PMID:17530927

Alkuraya, Fowzan S; Donovan, Diana J; Xi, Qiongchao; Turbe-Doan, Annick; Li, Qing-Gang; Campbell, Craig G; Shanske, Alan L; Sherr, Elliott H; Ahmad, Ayesha; Peters, Roxana; Rilliet, Benedict; Parvex, Paloma; Bassuk, Alexander G; Harris, David J; Ferguson, Heather; Kelly, Chantal; Walsh, Christopher A; Gronostajski, Richard M; Devriendt, Koenraad; Higgins, Anne; Ligon, Azra H; Quade, Bradley J; Morton, Cynthia C; Gusella, James F; Maas, Richard L

2007-01-01

34

Fragile X syndrome in two siblings with major congenital malformations  

SciTech Connect

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.

Giampietro, P.F.; Haas, B.R.; Lipper, E. [Cornell Univ. Medical Center, New York, NY (United States)] [and others] [Cornell Univ. Medical Center, New York, NY (United States); and others

1996-05-17

35

Angiokeratoma circumscriptum naeviforme with soft tissue hypertrophy and deep venous malformation: A variant of Klippel-Trenaunay syndrome?  

PubMed Central

Klippel-Trenaunay syndrome (KTS) is a cutaneous capillary malformation on a limb in association with soft tissue swelling with or without bony hypertrophy and atypical varicosity. The capillary malformation associated with KTS is port wine stain. Angiokeratoma circumscriptum naeviforme (ACN) is a congenital variant of angiokeratoma commonly present on the lower limb as a hyperkeratotic plaque. ACN is rarely associated with KTS. We report a case of ACN with soft tissue hypertrophy and deep venous malformation (possibly a variant of Klippel-Trenaunay) in a 4-year-old male child. PMID:25593797

Wankhade, Vaishali; Singh, Rajesh; Sadhwani, Venus; Kodate, Purnima; Disawal, Amit

2014-01-01

36

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

PubMed Central

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

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

2010-01-01

37

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

PubMed

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

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

2015-04-01

38

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

PubMed Central

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

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

2014-01-01

39

Split Cord Malformation Combined with Tethered Cord Syndrome in an Adult  

PubMed Central

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

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

2013-01-01

40

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?  

PubMed

We report on two unrelated cases born to nonconsanguineous parents with a similar clinical presentation: hypotonia since the neonatal period, severe failure to thrive, postnatal growth retardation, facial dysmorphism, congenital cardiac defects (septal defect and non progressive multiple valve dysplasia), shortened extremities, carpal/tarsal and extensive vertebral synostosis, delayed carpal bone age, deafness, and inner ear malformations. Presently, both patients present with normal psychomotor development. Additional abnormal findings include extra oral frenulum, nasal speech, and vesico-ureteral reflux. Molecular analysis in one patient excluded the Noggin gene and Filamin B (FLNB) was excluded in the other patient. Although some features are similar to spondylocarpotarsal synostosis syndrome, the exclusion of FLNB and this constellation of findings suggest a new entity, closely similar to an autosomal dominant condition reported by Forney et al. 1966 in a unique family. Identification of similarly affected patients should aid in the further elucidation of this syndrome. PMID:20186786

Sousa, Sérgio B; Baujat, Geneviéve; Abadie, Véronique; Bonnet, Damien; Sidi, Daniel; Munnich, Arnold; Krakow, Deborah; Cormier-Daire, Valérie

2010-03-01

41

Contribution of apoptosis and apoptosis-related proteins to the malformation of the primitive intrahepatic biliary system in Meckel syndrome.  

PubMed

In the developing liver, the complete or partial persistence of the primitive double-layered cylinder of biliary-type cells that surrounds the branches of portal vein and its mesenchyme gives origin to portal tracts with an increased number of bile duct structures. The term "ductal plate malformation of the liver" was coined to label the insufficient remodeling of the primitive intrahepatic biliary system. Meckel syndrome is an autosomal recessive inherited disease characterized by occipital encephalocele, postaxial polydactyly, diffuse cystic renal dysplasia, and malformation of the ductal plate of the liver. We studied 52 fetuses with Meckel syndrome from five German centers (Berlin, Freiburg, Heidelberg, Mainz, and Marburg). Analysis of apoptosis and cell proliferation (Ki-67) was performed by terminal deoxynucleotide transferase-mediated dUTP nick-end labeling (TUNEL) and immunohistochemistry in the liver of 24 normal fetuses of different gestational ages (14-38 weeks of gestation) and in 14 fetuses with Meckel syndrome (17-38 weeks of gestation). The expression of two apoptosis-related proteins, Fas (a transmembrane cell surface protein involved in the apoptosis) and Bcl-2 (an anti-apoptotic protein), was studied by immunohistochemistry in the liver of 11 normal fetuses of different gestational ages (14-40 weeks of gestation) and in 40 fetuses with Meckel syndrome (16-38 weeks of gestation). In control fetuses, apoptosis rate and cell proliferation were high in the remodeling ductal plate and moderate in the ductal plate and in remodeled bile ducts. During gestation, expression of Fas and Bcl-2 decreased and increased, respectively. The malformed ductal plates in the fetal livers with Meckel syndrome showed a marked decrease in the apoptotic rate and Fas expression and an increase in proliferative activity and Bcl-2 expression in comparison with control fetuses. Furthermore, by linear regression analysis, we found that both proliferation activity and apoptosis rate in the ductal plate malformation of fetuses with Meckel syndrome were practically constant along the gestation. These results, which represent the first systematic study of apoptosis in ductal plate malformation of the liver, indicate that 1) animals harboring the gene defect of Meckel syndrome could be a good model for the study of the abnormal development of the primitive intrahepatic biliary system, 2) a decreased cell turnover occurs in the ductal plate malformation of fetuses with Meckel syndrome, and 3) the increase of Bcl-2 expression contributes to the pathogenesis of the lack of remodeling of ductal plate of the liver in Meckel syndrome. PMID:10793071

Sergi, C; Kahl, P; Otto, H F

2000-05-01

42

Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: discussion of problems in prenatal differential diagnosis of midline malformation syndromes.  

PubMed

Hydrolethalus syndrome is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, cleft lip/palate, micrognathia, and polydactyly. Its molecular basis is unknown and prenatal diagnosis is challenging due to phenotypic overlap with several other midline malformation syndromes. A 34-year-old G3P2, nonconsanguinous, married, African-American woman was referred at 19 weeks of gestation after ultrasound findings of "multiple congenital anomalies." A previous pregnancy had been terminated following ultrasound findings of polyhydramnios, cleft lip/palate, polydactyly, severe hydrocephalus, and a Dandy-Walker malformation (DWM). Level II ultrasound evaluation of the current pregnancy demonstrated all of the anomalies which had been present in her previous pregnancy. Karyotype of amniocytes was 46,XX. Autopsy following pregnancy termination confirmed ultrasound findings. The pedigree, sonographic, and autopsy findings in this case were most consistent with hydrolethalus syndrome, although other AR multiple midline malformation syndromes were considered. Our case was detected by 19 weeks. Confident differential diagnosis is difficult for the geneticist and even more so for the sonologist given the technical limitations of ultrasound. It is uncertain whether these mendelian midline malformation syndromes represent slightly different phenotypic expressions of a common genetic defect or are manifestations of allelic and or locus heterogeneity. We suggest that for prenatal diagnostic purposes, in the absence of knowledge of the molecular basis of these disorders, the fine distinctions are not crucial as long as their mendelian inheritance is recognized and presence or absence of manifestations which make them severe are ascertained. PMID:8322817

Pryde, P G; Qureshi, F; Hallak, M; Kupsky, W; Johnson, M P; Evans, M I

1993-06-15

43

Apert syndrome: analysis of associated brain malformations and conformational changes determined by surgical treatment.  

PubMed

Apert Syndrome, also called acrocephalosyndactylia type 1, is characterized by craniostenosis with early fusion of sutures of the vault and/or cranial base, associated to mid-face hypoplasia, symmetric syndactylia of the hands and feet and other systemic malformations. CNS malformations and intracranial hypertension are frequently observed in these patients. Early surgical treatment aims to minimize the deleterious effects of intracranial hypertension. Fronto-orbital advancement, the usual surgical technique, increases the intracranial Volume and improves the disposition of encephalic structures previously deformed by a short skull. This study analyzes CNS alterations revealed by magnetic resonance in 18 patients presenting Apert Syndrome, and the conformational alterations in the encephalic structures after surgical treatment. The patients' age in February 2001 ranged from 14 to 322 Months (m=107). Image study included brain magnetic resonance showing ventricular enlargement in five cases (27.8%), corpus callosum hypoplasia in five cases (27.8%), septum pellucidum hypoplasia in five cases (27.8%), cavum vergae in two cases (11.1%) and, arachnoid cyst in the posterior fossa in two cases (11.1%). Absence of CNS alterations was noted in 44.4% of cases. A corpus callosum morphologic index was established by dividing its height by its length, which revealed values that ranged from 0.4409 to 1.0237. The values of this index were correlated to the occurrence or absence of surgical treatment (p=0.012; t=2.83). Data analysis allowed the conclusion that the corpus callosum morphologic measure quantified the conformational alterations of the cerebral structures determined by the surgical treatment. PMID:15094649

Yacubian-Fernandes, A; Palhares, A; Giglio, A; Gabarra, R C; Zanini, S; Portela, L; Plese, J P P

2004-03-01

44

Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.  

PubMed

The scalp-ear-nipple syndrome is a rare autosomal dominant condition that involves lesions of the scalp, malformed external ears, and absence of rudimentary nipples and breasts. We report a case of a woman with hypothelia, bilateral mildly malformed ears, and syndactyly of the hands and feet, and review the literature on the hypothelia/athelia phenotype. This case may represent a mild phenotype of the scalp-ear-nipple syndrome or a newly recognized entity. PMID:15712197

Baris, Hagit; Tan, Wen-Hann; Kimonis, Virginia E

2005-04-15

45

Novel FREM1 Mutations Expand the Phenotypic Spectrum Associated with Manitoba-Oculo-Tricho-Anal (MOTA) Syndrome and Bifid Nose Renal Agenesis Anorectal Malformations (BNAR) Syndrome  

PubMed Central

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations that likely result in complete loss of FREM1 function. This infant also had renal dysplasia, a finding more consistent with BNAR syndrome. Another male who was homozygous for a novel stop mutation had a extensive eyelid colobomas, corneopalpebral synechiae and unilateral renal agenesis. A third male child diagnosed with MOTA syndrome because of corneopalpebral synechiae and eyelid colobomas had a homozygous splice site mutation in FREM1. These cases illustrate that disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes, and that features of both syndromes may be seen in the same individual. The phenotype of FREM1-related disorders is thus more pleiotropic than for MOTA and BNAR syndrome alone and more closely resembles the widespread clinical involvement seen with Fraser syndrome. Moreover, our first case demonstrates that vaginal atresia may be a feature of FREM1-related disorders. PMID:23401257

Nathanson, Jared; Swarr, Daniel T.; Singer, Amihood; Liu, Mochi; Chinn, Amy; Jones, Wendy; Hurst, Jane; Khalek, Nahla; Zackai, Elaine; Slavotinek, Anne

2012-01-01

46

Prune Belly Syndrome with Overlapping Presentation of Partial Urorectal Septum Malformation Sequence in a Female Newborn with Absent Perineal Openings  

PubMed Central

Prune belly syndrome (PBS) is a rare congenital anomaly characterized in males by a triad of anomalous genitourinary tract, deficient development of abdominal wall muscles, and bilateral cryptorchidism. Although similar anomalies have been reported in females, by definition they do not full fill the classical triad. Urorectal septum malformation sequence (URSM) is a lethal condition characterized by presence of ambiguous genitalia, absent perineal openings (urogenital and anal), and lumbosacral abnormalities. In this original case report, the authors discuss the presentation and management of what would be analogous to a Woodhouse category 1 PBS in a female newborn associated with an overlapping presentation of URSM. PMID:25548711

Farooqui, Azhar; AlAqeel, Alaa; Habib, Zakaria

2014-01-01

47

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 ...

48

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation  

PubMed Central

p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand–split foot malformation (SHFM). We performed p63 mutation analysis in a sample of 43 individuals and families affected with EEC syndrome, in 35 individuals affected with SHFM, and in three families with the EEC-like condition limb-mammary syndrome (LMS), which is characterized by ectrodactyly, cleft palate, and mammary-gland abnormalities. The results differed for these three conditions. p63 gene mutations were detected in almost all (40/43) individuals affected with EEC syndrome. Apart from a frameshift mutation in exon 13, all other EEC mutations were missense, predominantly involving codons 204, 227, 279, 280, and 304. In contrast, p63 mutations were detected in only a small proportion (4/35) of patients with isolated SHFM. p63 mutations in SHFM included three novel mutations: a missense mutation (K193E), a nonsense mutation (Q634X), and a mutation in the 3? splice site for exon 5. The fourth SHFM mutation (R280H) in this series was also found in a patient with classical EEC syndrome, suggesting partial overlap between the EEC and SHFM mutational spectra. The original family with LMS (van Bokhoven et al. 1999) had no detectable p63 mutation, although it clearly localizes to the p63 locus in 3q27. In two other small kindreds affected with LMS, frameshift mutations were detected in exons 13 and 14, respectively. The combined data show that p63 is the major gene for EEC syndrome, and that it makes a modest contribution to SHFM. There appears to be a genotype-phenotype correlation, in that there is a specific pattern of missense mutations in EEC syndrome that are not generally found in SHFM or LMS. PMID:11462173

van Bokhoven, Hans; Hamel, Ben C. J.; Bamshad, Mike; Sangiorgi, Eugenio; Gurrieri, Fiorella; Duijf, Pascal H. G.; Vanmolkot, Kaate R. J.; van Beusekom, Ellen; van Beersum, Sylvia E. C.; Celli, Jacopo; Merkx, Gerard F. M.; Tenconi, Romano; Fryns, Jean Pierre; Verloes, Alain; Newbury-Ecob, Ruth A.; Raas-Rotschild, Annick; Majewski, Frank; Beemer, Frits A.; Janecke, Andreas; Chitayat, David; Crisponi, Giangiorgio; Kayserili, Hülya; Yates, John R. W.; Neri, Giovanni; Brunner, Han G.

2001-01-01

49

Correction of malformative patellar instability in patients with nail-patella syndrome: a case report and review of the literature.  

PubMed

Nail-patella syndrome (NPS) or hereditary onycho-osteodysplasia is a relatively rare autosomal dominant disorder with the classic tetrad of fingernail abnormalities, hypoplastic patellae, radial head dislocation and iliac horns. The anatomic abnormalities in NPS often lead to subluxation or dislocation of the patellaeca causing knee instability and pain. Although most existing literature regarding the knee manifestation of this syndrome has focused on the clinically and radiological changes, only a few articles discussed the surgical treatment. This study reports the clinical, radiological and arthroscopical findings and a 24-month follow-up after operative stabilisation considering the underlying pathomorphology of malformative patellar instability in an 11-year-old girl. The findings of this study confirm the unique pathology of NPS with a synovial band preventing the engagement of the patella into the trochlear groove. NPS is a rare disorder and has to be considered in cases with untypical patella dislocation. The underlying pathology differs completely from patients with patellofemoral instability. The aim of orthopaedic surgery should be correction of the underlying pathology with resection of the synovial band and an additional realignment of the patella by recentering of the quadriceps muscle. Considering the underlying pathology good clinical results can be expected. PMID:24029584

Lippacher, S; Mueller-Rossberg, E; Reichel, H; Nelitz, M

2013-10-01

50

The Prune Belly Syndrome in a Female Foetus with Urorectal Septum Malformation Sequence: A Case Report on a Rare Entity with an Unusual Association  

PubMed Central

The prune belly syndrome is a rare congenital anomaly which is characterized by the triad of an absent or a deficient development of the abdominal muscle, bilateral cryptorchidism and an anomalous urinary tract. In its full form, this condition occurs only in males. However, a similar condition occurs in females in the absence of cryptorchidism. On the other hand, the urorectal septum malformation sequence is a lethal congenital malformation which is characterized by the development of a phallus like structure, a smooth perineum and the absence of urethral, vaginal and anal openings. We are reporting a case of a female foetus with the prune belly syndrome, which was associated with a urorectal septum malformation sequence. A dead foetus with a protruded abdomen and ambiguous genitalia, was born at 32 weeks of pregnancy. On autopsy, it was found to have female internal genital organs. The left kidney, the urinary bladder and the rectum were absent. The sigmoid colon, the ureters and the fallopian tubes opened into a common cloacal sac. The histopathological examination of the ovary showed the presence of Leydig’s cells. The occurrence of the female counterpart of the prune belly syndrome is extremely rare and only few of such cases were found to be discussed in the details in the indexed English literature so far. Hence, we hope that this case report will contribute to the existing knowledge on the prune belly syndrome. PMID:24086893

Goswami, Dibyajyoti; Kusre, Giriraj; Dutta, Hemonta Kumar; Sarma, Adity

2013-01-01

51

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

SciTech Connect

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.

Dincsoy, M.Y.; Salih, M.A.M.; Al-Jurayyan, N. [King Saud Univ, Riyadh (Saudi Arabia)] [and others

1995-04-10

52

Anorectal malformations  

PubMed Central

Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

53

Anorectal malformations.  

PubMed

Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

54

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

PubMed Central

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

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

2013-01-01

55

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. Types of brain malformations include missing parts ...

56

Prune belly syndrome and associated malformations. A 13-year experience from a developing country.  

PubMed

A retrospective investigation was conducted to describe clinical features and birth outcomes among babies with prune belly syndrome detected ante-natally and at birth at the University Teaching Hospital in Cameroon. A total of 11 cases were identified over a period of 13 years, and the majority of affected fetuses were male (10 of 11). Most of the mothers were less than 30 years of age, had singleton pregnancies, and about two-thirds were complicated by placenta praevia, genital infections, preeclampsia, and anaemia associated with hookworm infestations. The most prominent findings related to prune belly syndrome among our patients were clubfoot (45%), pulmonary hypoplasia (27%), Potter facies (27%), imperforate anus (27%), and arthrogryposis (18%). About two-thirds of the affected pregnancies did not reach the age of viability either due to voluntary termination (three of seven cases) or spontaneous abortion (four of seven cases). Of the remaining four viable pregnancies, two cases each of stillbirth and neonatal death were recorded. Among pregnancies that were not voluntarily terminated (n = 8), multiple concomitant anomalies and bilateral renal lesions were apparently the cause of fetal/infant death in the majority of cases (75%). In conclusion, Cameroonian babies with prune belly syndrome presented with clinical features that were comparable to those observed in developed nations. PMID:15040062

Salihu, H M; Tchuinguem, G; Aliyu, M H; Kouam, L

2003-12-01

57

Amphibian malformations  

USGS Publications Warehouse

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.

National Wildlife Health Center

1998-01-01

58

Management strategy for facial venous malformations  

PubMed Central

Venous malformations (VMs) are slow-flow vascular malformations, caused by abnormalities in the development of the veins. Venous malformations vary in size and location within the body. When the skin or tissues just under the skin are affected, they appear as slightly blue-colored skin stains or swellings. These can vary in size from time to time because of swelling within the malformation. As these are vascular malformations, they are present at birth and grow proportionately with the child. Venous malformations can be very small to large in size, and sometimes, can involve a significant area within the body, When the venous malformation is well localized, this may cause localized swelling, however, when the venous malformation is more extensive, there may be more widespread swelling of the affected body part. Some patients with venous malformations have abnormal blood clotting within the malformation. Most venous malformations cause no life-threatening problems for patients. Some venous malformations cause repeated pain due to intermittent swelling and congestion of the malformation or due to the formation of blood clots within the malformation. Rarely, venous malformations may be part of a syndrome (an association of several clinically recognizable features) or be linked to an underlying genetic abnormality. We present 12 cases of venous malformations of the head and neck area, which have been managed at our hospital. PMID:25298729

Kumar, Shailendra; Kumar, Vijay; Kumar, Sanjeev; Kumar, Surender

2014-01-01

59

Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.  

PubMed

Focal dermal hypoplasia (Goltz syndrome, Online Mendelian Inheritance in Man [OMIM] 305600) is a rare X-linked dominant congenital disorder involving defects of mesodermal- and ectodermal-derived structures. It is associated with mutations in the PORCN gene, a regulator of Wnt signaling proteins. The phenotype is highly variable, although all describe characteristic skin findings as a primary diagnostic feature. To date there are few case reports of focal dermal hypoplasia associated with central nervous system abnormalities. We report the second case of focal dermal hypoplasia associated with myelomenigocele, Arnold-Chiari malformation and hydrocephalus and the first in a male. Genetic testing identified a novel mosaic three base pair deletion within the PORCN gene (c.853_855delACG). This case highlights the importance of neurological evaluation in focal dermal hypoplasia and consideration of other syndromes more commonly associated with central nervous system abnormalities. In this report we summarize the literature on neurological manifestations in Goltz syndrome. PMID:24387693

Peters, Tess; Perrier, Renee; Haber, Richard M

2014-01-01

60

Malformed Frogs  

NSDL National Science Digital Library

This activity (on page 2 of the PDF) is a full inquiry investigation into using indicator species to assess the health of an environment. Groups of learners will collect as many frogs as they can from a pond, looking for malformations, which will be documented and further sorted as either symmetrical or asymmetrical. This data will then be graphed to identify a prevalent trend and possible cause of malformations. Relates to linked video, DragonflyTV: Malformed Frogs.

Twin Cities Public Television, Inc.

2005-01-01

61

Vascular malformations revisited.  

PubMed

Vascular malformations are congenital anomalies that can affect each part of the vasculature. Combined forms are common and they are often part of complex syndromes. Most malformations are diagnosed during infancy, but some get obvious only later in life. The field of vascular malformations is emerging with recently described new entities and treatments. Still, misdiagnosis is common in this field, leading to nosologic confusion and wrong treatment. Clinical evaluation and imaging are the gold standard for diagnostic confirmation. Sclerotherapy and embolization are the main treatment techniques but are also used preoperatively to reduce blood loss and shrink the lesion if surgery is planned. Despite new treatment options, especially if extensive in size or involving vulnerable structures, vascular malformations are still considered chronic diseases and cause significant morbidity. Common understanding and agreement on terminology and a multidisciplinary approach are the basis of successful treatment and long-term support for these patients. Continuing research in the field of vascular anomalies will improve knowledge and create further treatment options. PMID:25537054

Clemens, Robert K; Pfammatter, Thomas; Meier, Thomas O; Alomari, Ahmad I; Amann-Vesti, Beatrice R

2015-01-01

62

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).  

PubMed

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the condition. We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing. We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426+1?G>T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence. The mutation reported here in AP1S2 is the first mutation that is not predicted to cause a premature termination of the coding sequence or absence of the AP1S2 protein. Although most of the families affected by a mutation in AP1S2 were initially described as having different disorders assigned to at least three different OMIM numbers (MIM 300629, 300630 and 304340), our analysis of the phenotype shows that they are all the same syndrome with recognition complicated by highly variable expressivity that is seen within as well as between families and is probably not explained by differences in mutation severity. PMID:23756445

Cacciagli, Pierre; Desvignes, Jean-Pierre; Girard, Nadine; Delepine, Marc; Zelenika, Diana; Lathrop, Mark; Lévy, Nicolas; Ledbetter, David H; Dobyns, William B; Villard, Laurent

2014-03-01

63

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)  

PubMed Central

MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy–Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the condition. We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing. We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426+1?G>T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence. The mutation reported here in AP1S2 is the first mutation that is not predicted to cause a premature termination of the coding sequence or absence of the AP1S2 protein. Although most of the families affected by a mutation in AP1S2 were initially described as having different disorders assigned to at least three different OMIM numbers (MIM 300629, 300630 and 304340), our analysis of the phenotype shows that they are all the same syndrome with recognition complicated by highly variable expressivity that is seen within as well as between families and is probably not explained by differences in mutation severity. PMID:23756445

Cacciagli, Pierre; Desvignes, Jean-Pierre; Girard, Nadine; Delepine, Marc; Zelenika, Diana; Lathrop, Mark; Lévy, Nicolas; Ledbetter, David H; Dobyns, William B; Villard, Laurent

2014-01-01

64

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

PubMed

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

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

2015-03-15

65

Classification and diagnosis of ear malformations  

PubMed Central

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

Bartel-Friedrich, Sylva; Wulke, Cornelia

2008-01-01

66

Congenital hand anomaly: etiology and associated malformations.  

PubMed

Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affect surgical timings and the indications for surgical correction. Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, syndactyly, and polydactyly. PMID:3007544

Goldberg, M J; Bartoshesky, L E

1985-08-01

67

Cerebral Cavernous Malformation  

MedlinePLUS

NINDS Cerebral Cavernous Malformation Information Page Synonym(s): Cavernomas, Cavernous Angioma, Congenital Vascular Cavernous Malformations, Familial Hemangioma, Nevus Cavernosus, Vascular Erectile Tumor, Cavernous Malformation Table of Contents (click to jump to sections) ...

68

Digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome?  

PubMed

Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs. PMID:24665281

Shakiba, Marjan; Nezhad Bieglari, Habibe; Alaee, Mohammad Reza

2012-01-01

69

Digital and Dental Malformation and Short Stature in a Patient with Neurological Problems: A Variant of the Oculodentodigital Dysplasia Syndrome or a New Syndrome?  

PubMed Central

Several syndromes have been recognized with digital abnormality and CNS involvement such as oculodentodigital dysplasia (ODDD), Mohr syndrome and Joubert syndrome. We report a patient who was referred to us because of the neurological signs suspicious of metabolic disorders. This case was a 22-year-old woman whose problems began 4 years ago with shortening of memory, ataxia, abnormal gait and diplopia which progressed slowly. She consulted many neurologists and was on treatment with the suspicion of vasculitis, but no response was detected. She had severe short stature, hypoplasia of the middle and distal phalanges of the first, second and third fingers, clinodactyly, abnormal toes, abnormal enamel and missing teeth. She had no characteristic faces of ODDD and ophthalmological abnormality. Our patient might be a variant of ODDD or a new syndrome with somatic and neurologic signs. PMID:24665281

SHAKIBA, Marjan; NEZHAD BIEGLARI, Habibe; ALAEE, Mohammad Reza

2012-01-01

70

Study of the Malformation of Ductal Plate of the Liver in Meckel Syndrome and Review of Other Syndromes Presenting with This Anomaly  

Microsoft Academic Search

Meckel syndrome (MIM 249.000) is an autosomal recessive disorder with a variable spectrum of anomalies. Since the first reports\\u000a of this syndrome, very broad diagnostic criteria have been proposed, but the process of defining them continues. It is probable\\u000a that at least two of three manifestations, including cystic kidney dysplasia, occipital encephalocele or other anomaly of\\u000a the central nervous system,

Consolato Sergi; Sven Adam; Philip Kahl; Herwart F. Otto

2000-01-01

71

[Unusual presentation of rib malformation].  

PubMed

Rib malformation and anatomical variations are not well known and are still often underdiagnosed. Usually, rib malformations are fortuitously discovered. We describe here the case of a girl, 4 years and 4 months old, who presented at the emergency unit for fever and an anterior tumefaction of the ribcage, without any other symptoms. She was eupneic with a normal pulmonary auscultation and viral tonsillitis with a negative streptococcus test. The thoracic tumefaction was parasternal, painless, and fixed and measured approximately 2.5 × 2cm. Ultrasound findings consisted of a duplicated and hypoechogenic hypertrophy of the sterno-costal cartilage of the 4th left rib. Magnetic resonance imaging (MRI) confirmed the diagnosis of chondral bifidity of the sterno-costal junction of the 4th left rib. Fever, due to the viral tonsillitis, disappeared after 4 days. Rib malformations are rare, often anterior, unilateral, and preferentially located on the 3rd or the 4th rib. The main malformative rib lesions are bifid ribs, rib spurs, and widened ribs. Very rarely, they can be associated with Gorlin-Goltz syndrome or with other malformations such as VATER complex. The main differential diagnoses of these rib malformations are traumatic, tumoral, and infectious etiologies. In case of tumoral diseases, the topography of the lesion focuses the etiologic diagnosis: whereas an anterior and cartilaginous lesion is always benign, a lateral or posterior lesion can be an Ewing sarcoma. Rib malformation investigation consists in meticulous questioning, a complete clinical examination looking for any associated anomaly, completed by basic imaging explorations such as plain thoracic radiography focused on the ribcage and ultrasound. Finally, complementary computerized tomography or preferably MRI, depending on the anatomic location of the lesion, confirms the final diagnosis, as presented in our case report, and removes any uncertainty. PMID:23037576

Cosson, M-A; Breton, S; Aprahamian, A; Grevent, D; Cheron, G

2012-11-01

72

LRP4 Mutations Alter Wnt/?-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome  

PubMed Central

Cenani-Lenz syndrome (CLS) is an autosomal-recessive congenital disorder affecting distal limb development. It is characterized mainly by syndactyly and/or oligodactyly and is now shown to be commonly associated with kidney anomalies. We used a homozygosity-mapping approach to map the CLS1 locus to chromosome 11p11.2-q13.1. By sequencing candidate genes, we identified recessive LRP4 mutations in 12 families with CLS. LRP4 belongs to the low-density lipoprotein (LDL) receptor-related proteins (LRPs), which are essential for various developmental processes. LRP4 is known to antagonize LRP6-mediated activation of canonical Wnt signaling, a function that is lost by the identified mutations. Our findings increase the spectrum of congenital anomalies associated with abnormal lipoprotein receptor-dependent signaling. PMID:20381006

Li, Yun; Pawlik, Barbara; Elcioglu, Nursel; Aglan, Mona; Kayserili, Hülya; Yigit, Gökhan; Percin, Ferda; Goodman, Frances; Nürnberg, Gudrun; Cenani, Asim; Urquhart, Jill; Chung, Boi-Dinh; Ismail, Samira; Amr, Khalda; Aslanger, Ayca D.; Becker, Christian; Netzer, Christian; Scambler, Pete; Eyaid, Wafaa; Hamamy, Hanan; Clayton-Smith, Jill; Hennekam, Raoul; Nürnberg, Peter; Herz, Joachim; Temtamy, Samia A.; Wollnik, Bernd

2010-01-01

73

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

PubMed Central

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

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

2013-01-01

74

Anorectal malformations  

PubMed Central

Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life. PMID:17651510

Levitt, Marc A; Peña, Alberto

2007-01-01

75

Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome  

PubMed Central

SUMMARY Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1del64-323) that caused a 260-amino-acid deletion spanning nine amino acids in the B9 domain, a protein motif with unknown function conserved in two other basal body proteins. We showed that, in wild-type cells, Mks1 was localized to the mother centriole from which the cilium was generated. However, in mutant Mks1del64-323 cells, Mks1 was not localized to the centriole, even though it maintained a punctate distribution. Resembling MKS patients, Mks1 mutants had craniofacial defects, polydactyly, congenital heart defects, polycystic kidneys and randomized left-right patterning. These defects reflected disturbance of functions subserved by motile and non-motile cilia. In the kidney, glomerular and tubule cysts were observed along with short cilia, and cilia were reduced in number to a near-complete loss. Underlying the left-right patterning defects were fewer and shorter nodal cilia, and analysis with fluorescent beads showed no directional flow at the embryonic node. In the cochlea, the stereocilia were mal-patterned, with the kinocilia being abnormally positioned. Together, these defects suggested disruption of planar cell polarity, which is known to regulate node, kidney and cochlea development. In addition, we also showed that Shh signaling was disrupted. Thus, in the neural tube, the floor plate was not specified posteriorly even as expression of the Shh mediator Gli2 increased. By contrast, the Shh signaling domain was expanded in the anterior neural tube and anterior limb bud, consistent with reduced Gli3-repressor (Gli3R) function. The latter probably accounted for the preaxial digit duplication exhibited by the Mks1del64-323 mutants. Overall, these findings indicate that centriole localization of Mks1 is required for ciliogenesis of motile and non-motile cilia, but not for centriole assembly. On the basis of these results, we hypothesize a role for the B9 domain in mother centriole targeting, a possibility that warrants further future investigations. PMID:21045211

Cui, Cheng; Chatterjee, Bishwanath; Francis, Deanne; Yu, Qing; SanAgustin, Jovenal T.; Francis, Richard; Tansey, Terry; Henry, Charisse; Wang, Baolin; Lemley, Bethan; Pazour, Gregory J.; Lo, Cecilia W.

2011-01-01

76

Venous Malformation: update on etiopathogenesis, diagnosis & management  

PubMed Central

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

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

2011-01-01

77

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 ...

78

Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations: A prospective study  

Microsoft Academic Search

Recent molecular studies have revealed that a 22q11 deletion is frequently detected in DiGeorge syndrome (DGS), velo-cardio-facial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). As one of the major clinical manifestations in these three syndromes is conotruncal cardiac malformation, we prospectively studied the frequency of a 22q11 deletion in a group of patients with conotruncal cardiac malformation. Fluorescence in

Kazuhiro Takahashi; Sachiko Kido; Kenji Hoshino; Kiyoshi Ogawa; Hirofumi Ohashi; Yoshimitsu Fukushima

1995-01-01

79

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

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.

Gersh, M.; Overhauser, J. [Thomas Jefferson Univ., Philadelphia, PA (United States); Pasztor, L.M. [Children`s Mercy Hospital, Kansas City, MO (United States)] [and others

1994-09-01

80

Recent advances in the genetic etiology of brain malformations.  

PubMed

In the past few years, the increasing accessibility of next-generation sequencing technology has translated to a number of significant advances in our understanding of brain malformations. Genes causing brain malformations, previously intractable due to their complex presentation, rarity, sporadic occurrence, or molecular mechanism, are being identified at an unprecedented rate and are revealing important insights into central nervous system development. Recent discoveries highlight new associations of biological processes with human disease including the PI3K-AKT-mTOR pathway in brain overgrowth syndromes, the trafficking of cellular proteins in microcephaly-capillary malformation syndrome, and the role of the exosome in the etiology of pontocerebellar hypoplasia. Several other gene discoveries expand our understanding of the role of mitosis in the primary microcephaly syndromes and post-translational modification of dystroglycan in lissencephaly. Insights into polymicrogyria and heterotopias show us that these 2 malformations are complex in their etiology, while recent work in holoprosencephaly and Dandy-Walker malformation suggest that, at least in some instances, the development of these malformations requires "multiple-hits" in the sonic hedgehog pathway. The discovery of additional genes for primary microcephaly, pontocerebellar hypoplasia, and spinocerebellar ataxia continue to impress upon us the significant degree of genetic heterogeneity associated with many brain malformations. It is becoming increasingly evident that next-generation sequencing is emerging as a tool to facilitate rapid and cost-effective molecular diagnoses that will be translated into routine clinical care for these rare conditions in the near future. PMID:23793931

Dyment, David A; Sawyer, Sarah L; Chardon, Jodi Warman; Boycott, Kym M

2013-08-01

81

Morphological variation of "complex vertebral malformation" in Holstein calves.  

PubMed

A study was performed to investigate the morphological expression of the inherited syndrome "complex vertebral malformation" (CVM) in Holstein calves. A total of 107 late-term aborted, premature, or neonatal calves suspected of having CVM were necropsied and retrospectively analyzed for the causal mutation in the gene SLC35A3. Sixty-two calves were homozygous affected, 16 were heterozygous, and 29 were homozygous normal. Calves affected by CVM were growth retarded. Vertebral lesions identified by radiography were present in 61 cases, of which 58 also had costal malformation. Malformation of the head, primarily in the form of dysplasia or palatoschisis, was present in 15 cases. Bilateral symmetric flexion of the carpal and metacarpophalangeal joints was present in all cases, whereas posterior arthrogryposis was found in 54 cases. Interventricular septal defects occurred in 33 calves, often in combination with other cardiac malformations. A wide spectrum of additional malformations was found. Other congenital syndromes were in most cases distinguishable from CVM on a morphological basis. However, a calf with a prenatal infection with bovine virus diarrhea virus constituted a phenocopy. The study demonstrated that the morphological expression of CVM is wide, but certain aspects, i.e., growth retardation, vertebral malformation, and symmetric arthrogryposis, are almost constant findings. However, cases without vertebral defects and phenocopies constitute a diagnostic problem. A presumptive diagnosis of CVM can in most cases be based on necropsy findings combined with information on descent and paternal CVM genotype, whereas a definitive diagnosis requires genotyping. PMID:15586570

Agerholm, Jorgen S; Bendixen, Christian; Arnbjerg, Jens; Andersen, Ole

2004-11-01

82

Reoperation for Chiari Malformations  

Microsoft Academic Search

Background: We undertook this study to characterize those patients who required reoperations for Chiari malformation and to determine whether modifications in surgical technique at the initial procedure might have obviated the need for repeat surgery. Methods: We reviewed the hospital records, imaging studies, operative reports, and follow-up data of those patients who were undergoing a second operation as part of

David Sacco; R. Michael Scott

2003-01-01

83

Chiari malformation in craniosynostosis  

Microsoft Academic Search

Introduction: Chiari mal- formation (CM) is a frequent finding in multisutural and syndromic cra- niosynostosis, occurring in 70% of patients with Crouzon's syndrome, 75% with oxycephaly, 50% with Pfeiffer's syndrome and 100% with the Kleeblattschädel deformity. The pathogenesis of this condition and rationale for treatment are still con- troversial. Discussion: Since its first description in 1972, several factors have been

Giuseppe Cinalli; Pietro Spennato; Christian Sainte-Rose; Eric Arnaud; Ferdinando Aliberti; Francis Brunelle; Emilio Cianciulli; Dominique Renier

2005-01-01

84

Somatic Mutations in Cerebral Cortical Malformations  

PubMed Central

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

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

85

Arteriovenous Malformation Management  

SciTech Connect

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.

Yakes, Wayne F. [Interventional Radiology and Interventional Neuroradiology, Radiology Imaging Associates, P.C., Colorado NeurologicalInstitute, Swedish Medical Center, 501 E. Hampden Avenue, Englewood, CO 80110 (United States); Rossi, Plinio [Department of Radiology, Universita Degli Studi Di Roma, 'La Sapienza', 00161 Rome (Italy); Odink, Henk [Department of Radiology, De Wever Hospital, Henri Dunanstrat 5, 6419 PC Heerlen (Netherlands)

1996-11-15

86

A familial venous malformation locus is on chromosome 9p  

SciTech Connect

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.

Boon, L.M.; Mulliken, J.B. [Children`s Hospital, Boston, MA (United States); Vikkula, M. [Harvard Medical School, Boston, MA (United States)] [and others

1994-09-01

87

Polymicrogyria: a common and heterogeneous malformation of cortical development.  

PubMed

Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. PMID:24888723

Stutterd, Chloe A; Leventer, Richard J

2014-06-01

88

Asymmetric crying facies: a possible marker for congenital malformations.  

PubMed

Asymmetric crying facies (ACF) is caused by agenesis or hypoplasia of the depressor anguli oris muscle on one side of the mouth. Though it is an isolated finding in most cases, ACF can be associated with other congenital malformations especially of the cardiovascular system. We report a case of ACF that was subsequently diagnosed as Cayler syndrome based on associated tetralogy of Fallot (TOF) and deletion of chromosome 22q11. PMID:16318980

Rioja-Mazza, Dora; Lieber, Ernest; Kamath, Vasudeva; Kalpatthi, Ram

2005-10-01

89

Progressive tentorial cavernous malformation  

PubMed Central

Background: Because extra-axial cavernous malformations (CMs) are rare, the common clinical course remains unclear. We report the case of a patient with progressive CM originating from the cerebellar tentorium. Case Description: A 64-year-old woman was admitted to our hospital with the complaint of diplopia. Magnetic resonance (MR) imaging revealed a lesion attached to the left cerebellar tentorium, close to the cerebral peduncle. This well-demarcated lesion rapidly enlarged for 3 months and eroded into the midbrain. Cerebral angiography showed a branch of the middle meningeal artery supplying the lesion and pooling of the contrast medium in the venous phase. A dark reddish and mulberry-like mass of the tentorium was observed intraoperatively, allowing the diagnosis of a tentorial CM. The feeding artery was identified in the tentorium and was coagulated. Postoperative MR imaging showed remarkable mass reduction and central necrosis of the lesion. However, the lesion recurred in 3 months; consequently, gamma knife radiosurgery was performed. After an additional 2 months, the lesion shrank in response to the radiosurgery. Conclusions: We report an extremely rare case of tentorial CM which showed rapid growth in a short period. Coagulation of the feeding artery was not sufficient to control the lesion. Gamma knife radiosurgery may prove highly effective for recurrent lesions. PMID:22439109

Furuta, Takuya; Nakada, Mitsutoshi; Watanabe, Takuya; Hayashi, Yutaka; Hamada, Jun-Ichiro

2012-01-01

90

Pediatric dural arteriovenous malformations.  

PubMed

Pediatric dural arteriovenous malformations (dAVMs) are rare lesions that have a high mortality rate and require complex management. The authors report 3 cases of pediatric dAVMs that presented with macrocrania and extracranial venous distension. Dural sinus thrombosis developed in 2 of the cases prior to any intervention, which is an unusual occurrence for this particular disease. All 3 cases were treated using staged endovascular embolization with a favorable outcome in 1 case and a poor outcome in the other 2 cases. Complications developed in all cases and included dural sinus thrombosis, parenchymal hemorrhage, intracranial venous hypertension, and seizures. The strategies and challenges used in managing these patients will be presented and discussed, along with a review of the literature. While outcomes remain poor, the authors conclude that prompt treatment with endovascular embolization provides the best results for children with these lesions. A well-established venous collateral circulation draining directly to the internal jugular veins may further improve the rate of favorable outcome after embolization. PMID:24867128

Appaduray, Shaun P; King, James A J; Wray, Alison; Lo, Patrick; Maixner, Wirginia

2014-07-01

91

Ethmocephaly with amniotic band syndrome.  

PubMed

Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. Amniotic band syndrome is another rare congenital malformation with ring-like constriction bands in the limbs, head, face or trunk. We present a case of ethmocephaly with amniotic band syndrome, which is likely the first of its kind, published in the literature. PMID:23248551

Das, Gobinda; Gayen, Sibnath; Bandyopadhyay, Sabyasachi; Das, Debabrata

2012-10-01

92

Ethmocephaly with Amniotic Band Syndrome  

PubMed Central

Ethmocephaly is the rarest form of holoprosencephaly, which occurs due to an incomplete cleavage of the forebrain. Clinically, the disease presents with a proboscis, hypotelorism, microphthalmos and malformed ears. Amniotic band syndrome is another rare congenital malformation with ring-like constriction bands in the limbs, head, face or trunk. We present a case of ethmocephaly with amniotic band syndrome, which is likely the first of its kind, published in the literature. PMID:23248551

Das, Gobinda; Gayen, Sibnath; Bandyopadhyay, Sabyasachi; Das, Debabrata

2012-01-01

93

Pulmonary arteriovenous malformations.  

PubMed

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

Shovlin, Claire L

2014-12-01

94

Symptoms of Sleep Disordered Breathing in Children with Craniofacial Malformations  

PubMed Central

Study Objective: The purpose of this study was to investigate the frequency of sleep disordered breathing (SDB) symptoms in a clinical sample of children with congenital craniofacial malformations (CFM) followed at a tertiary medical center and non-selected for sleep problems. Methods: Cross-sectional study of 575 children aged 2-18 years followed at the Craniofacial Anomalies Program between March 2007 and May 2011. The Sleep-Related Breathing Disturbance scale of the Pediatric Sleep Questionnaire was used to screen for SDB, snoring, and sleepiness. A cutoff value ? 0.33 of the total answered questions identified children with positive screening for SDB symptoms. Results: Overall, 25% of children screened positive for SDB, 28% for snoring, and 20% for sleepiness. In children with non-syndromic CFM, those with Robin sequence had the highest frequency of SDB, snoring, and sleepiness (43%, 44%, and 38%, respectively). In children with syndromic CFM, velocardiofacial/ DiGeorge syndrome had the highest frequency of SDB and sleepiness (48% and 43%, respectively). Children with Treacher Collins had the highest frequency of snoring (83%). The presence of cleft palate was not associated with an increased frequency of SDB symptoms. Nevertheless, children with syndromic CFM, compared to those with non-syndromic CFM, had a higher SDB score (0.27 ± 0.21 vs.0.21 ± 0.19, p = 0.003) and were more likely to have sleepiness (26% vs. 18%, p = 0.05). Conclusions: Congenital craniofacial malformations in children are associated with high risk for SDB symptoms. Our findings should encourage a high index of suspicion for SDB in children with CFM, with a low threshold for further testing and close follow-up. Citation: Moraleda-Cibrián M; Edwards SP; Kasten SJ; Berger M; Buchman SR; O'Brien LM. Symptoms of sleep disordered breathing in children with craniofacial malformations. J Clin Sleep Med 2014;10(3):307-312. PMID:24634629

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

2014-01-01

95

Intralesional radiofrequency in venous malformations.  

PubMed

Venous malformations are usually asymptomatic and managed conservatively. Treatment, in the form of laser, sclerotherapy, or resection, is needed only if lesions present with symptoms or cosmetic deformity. The aim of this study was to find out how effective radiofrequency ablation was in patients with incomplete or unsatisfactory resolution of a venous malformation after an intralesional injection of bleomycin. During the 5 year period 2008-2012, we organised a prospective, clinical study at a tertiary care centre. Patients were selected from the outpatient department of the Lady Hardinge Medical College and associated hospitals, New Delhi, India. Five patients with venous malformations were treated by intralesional injection of bleomycin in a dose of 0.5U/kg body weight, which was repeated every 2 weeks for a total of 8 injections. They then had multiple intralesional radiofrequency ablation every 2 months until a satisfactory outcome was achieved. After the initial 8 doses the reduction in the size of the lesions was minimal (less than 50%). After 2-4 applications of radiofrequency ablation there was appreciable reduction in the size of the lesions (about 80%) with good functional and cosmetic outcomes. Radiofrequency ablation is an effective adjunct for patients with venous malformations of the head and neck that have not responded satisfactorily to intralesional injection of bleomycin. To our knowledge radiofrequency ablation after intralesional injection of bleomycin has not previously been described as a treatment for venous malformations. PMID:25554592

Garg, S; Kumar, S; Singh, Y B

2015-03-01

96

Intracranial vascular malformations: MR and CT imaging  

SciTech Connect

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.

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

1985-08-01

97

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

PubMed Central

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

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

2013-01-01

98

[Midline-malformations of brain shown by computed tomography (author's transl)].  

PubMed

The so-called midline-malformations of the brain which include alterations of ventricles or arachnoid spaces formerly only were found by invasive procedures performed because of their various clinical signs. Since cranial computerized tomography is available, by this new noninvasive method all these disturbances can be diagnosed safely. The paper is referring to the most frequent and essential exponents of these midline-malformations together with their main features in anatomy, pathomorphology, clinical and radiological signs. The persistent performed cavities especially the cavum septi pellucidi, the cavum Vergae and the cavum veli interpositi, additionally the agenesis of the corpus callosum, the Dandy-Walker-syndrome and the Chiari-malformations are described by typical cases. In conclusion the reliability of diagnosis in all cases of midline-malformations will be mostly sufficient by plain axial computed tomograms due to very clearly defined unmistakable pictures. PMID:7302205

Ratzka, M; Sörensen, N; Wodarz, R

1981-11-01

99

Management of perinatal lung malformations.  

PubMed

This review uses the most up-to-date literature to help guide obstetrical providers through the diagnosis and management of perinatal lung malformations. These lesions, which include congenital pulmonary airway malformation [CPAM, formerly congenital cystic adenomatoid malformation (CCAM)] and bronchopulmonary sequestration (BPS), are relatively rare but are becoming increasingly common because of the improved resolution and enhanced sensitivity of fetal ultrasound. Serial assessment throughout pregnancy remains the norm rather than the exception. Perinatal management strategies can differ based on the sonographic characteristics and dynamic growth patterns of lung masses. Fetal magnetic resonance imaging and other diagnostic testing can sometimes be helpful in providing additional prognostic information. Over the last decade, the importance of echocardiography and utility of maternal steroids have been recognized in cases of non-immune hydrops. Fetal surgery is now rarely performed. Decisions regarding whether delivery of these fetuses should occur in a tertiary care center with pediatric surgery coverage versus delivery at a local community hospital are now highly relevant in most prenatal counseling discussions with families. Large lung malformations may require urgent surgical removal in the early postnatal period because of respiratory distress. Other complications, such as recurrent pneumonia, pneumothorax, and cancer, are indications for lung resection on an elective basis. In the vast majority of cases, the overall prognosis remains excellent. PMID:25310108

Macardle, C A; Kunisaki, S M

2015-02-01

100

Congenital Pulmonary Malformation in Children  

PubMed Central

Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life. PMID:24278678

Nadeem, Montasser; Elnazir, Basil; Greally, Peter

2012-01-01

101

Amphibian Population Declines and Malformations  

E-print Network

1 Amphibian Population Declines and Malformations Matthew J. Gray University of Tennessee Hyla regilla, ORBufo periglenes, CR Extinct, 1989 Worldwide Amphibian Population Declines Global Amphibian of Amphibian Declines Prior 1970s: 1970-mid-1980s: Late 80s-Now: ·Few extinctions; some localized die-offs ·Few

Gray, Matthew

102

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.  

PubMed

Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up. PMID:24038909

Revencu, Nicole; Boon, Laurence M; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Josée; Clapuyt, Philippe; Hammer, Frank; Amor, David J; Irvine, Alan D; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin-Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sarah; Barrio, Victoria R; Burrows, Patricia E; Blei, Francine; Cozzolino, Mariarosaria; Brunetti-Pierri, Nicola; Vicente, Asuncion; Abramowicz, Marc; Désir, Julie; Vilain, Catheline; Chung, Wendy K; Wilson, Ashley; Gardiner, Carol A; Dwight, Yim; Lord, David J E; Fishman, Leona; Cytrynbaum, Cheryl; Chamlin, Sarah; Ghali, Fred; Gilaberte, Yolanda; Joss, Shelagh; Boente, Maria Del C; Léauté-Labrèze, Christine; Delrue, Marie-Ange; Bayliss, Susan; Martorell, Loreto; González-Enseñat, Maria-Antonia; Mazereeuw-Hautier, Juliette; O'Donnell, Brid; Bessis, Didier; Pyeritz, Reed E; Salhi, Aicha; Tan, Oon T; Wargon, Orli; Mulliken, John B; Vikkula, Miikka

2013-12-01

103

Renal malformations associated with mutations of developmental genes: messages from the clinic  

PubMed Central

Renal tract malformations (RTMs) account for about 40% of children with end-stage renal failure. RTMs can be caused by mutations of genes normally active in the developing kidney and lower renal tract. Moreover, some RTMs occur in the context of multi-organ malformation syndromes. For these reasons, and because genetic testing is becoming more widely available, pediatric nephrologists should work closely with clinical geneticists to make genetic diagnoses in children with RTMs, followed by appropriate family counseling. Here we highlight families with renal cysts and diabetes, renal coloboma and Fraser syndromes, and a child with microdeletion of chromosome 19q who had a rare combination of malformations. Such diagnoses provide families with often long-sought answers to the question “why was our child born with kidney disease”. Precise genetic diagnoses will also help to define cohorts of children with RTMs for long-term clinical outcome studies. PMID:20603712

Adalat, Shazia; Bockenhauer, Detlef; Ledermann, Sarah E.; Hennekam, Raoul C.

2010-01-01

104

Split-hand/feet malformation in three tamilian families and review of the reports from India.  

PubMed

Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India. PMID:24959024

Amalnath, S Deepak; Gopalakrishnan, Maya; Dutta, Tarun Kumar

2014-01-01

105

Split-hand/feet malformation in three tamilian families and review of the reports from India  

PubMed Central

Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India. PMID:24959024

Amalnath, S. Deepak; Gopalakrishnan, Maya; Dutta, Tarun Kumar

2014-01-01

106

Successful treatment of a congenital extra-truncal vascular malformation by orally administered propranolol.  

PubMed

Abstract The ?-blocker propranolol has become a valuable and effective drug for the treatment of infantile hemangiomas. Its therapeutic action probably results from vasoconstriction, blocking of angiogenesis through effects on vascular endothelial growth factor and induction of apoptosis. It is reasonable to suggest that propranolol can also be used effectively in the treatment of other vascular abnormalities. This case report describes propranolol treatment of vascular malformations such as Klippel-Trénaunay syndrome or Parkes-Weber syndrome in adults. PMID:24359542

Pföhler, Claudia; Janssen, Eva; Buecker, Arno; Vogt, Thomas; Müller, Cornelia S L

2015-02-01

107

Congenital malformations of the hand and forearm in children: what radiologists should know.  

PubMed

Congenital upper limb malformations represent complex pathologies because of their varied clinical presentations, imaging features, and etiologies. They can be divided into (1) failure of formation with transverse, intercalary, and longitudinal (preaxial, postaxial, and mesoaxial) deficiencies, (2) failure of differentiation with synostoses, carpal coalitions, syndactylies, and symphalangism, (3) duplication with ulnar dimelia and polydactylies, and (4) brachydactylies. Congenital Madelung's deformity, clinodactyly, camptodactyly, and Kirner's deformity are usually included in these malformations. Despite advances in molecular diagnosis, a good knowledge of clinical and imaging features as well as special consideration of other skeletal or nonskeletal abnormalities are essential to eventually diagnose an embryo fetopathy (maternal valproate treatment, constriction band syndrome), a genetic disorder (trisomy 21 or Down syndrome, Turner's syndrome, Holt-Oram syndrome), or a nongenetic syndrome (vertebral, anal, cardiac, tracheal, esophageal, renal, limb association, Poland's syndrome). Genetic counseling for a child presenting with a congenital upper limb malformation is of great value, both for the treating team and the parents, and imaging is often required. The latter is still largely supported by conventional radiography, both for diagnosis and functional prognosis, but ultrasound and magnetic resonance imaging will be great tools in the near future to better evaluate these conditions. PMID:22648430

Aucourt, Julie; Budzik, Jean-François; Manouvrier-Hanu, Sylvie; Mézel, Aurélie; Cotten, Anne; Boutry, Nathalie

2012-04-01

108

Coarctation of the aorta in Kabuki syndrome  

Microsoft Academic Search

The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxta-ductal

H E Hughes; S J Davies

1994-01-01

109

Fetal alcohol syndrome and bilateral tibial exostoses  

Microsoft Academic Search

Maternal exposure to alcohol during pregnancy has been associated with fetal malformations referred to as the fetal alcohol syndrome. This paper describes, for the first time, the presence of bilateral tibial exostoses in a child with FAS.

E. M. Azouz; G. Kavianian; V. M. Der Kaloustian

1993-01-01

110

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 ...

111

Arteriovenous malformations in the brain  

Microsoft Academic Search

Opinion statement  Arteriovenous malformations (AVM) are a leading cause of intracerebral hemorrhage, especially among the young. Because they\\u000a pose a lifelong risk of serious bleeding, definitive treatment to obliterate the AVM should be pursued in the majority of\\u000a patients. Microsurgical resection of a small AVM located in the superficial or noneloquent brain achieves high cure rates\\u000a with low morbidity, and is

Glenn D. Graham

2002-01-01

112

A Neonate with CLOVES Syndrome  

PubMed Central

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet). PMID:25400966

Akin, Mustafa Ali; Kurtoglu, Selim; Tubas, Filiz; Sarici, Serdar Umit

2014-01-01

113

A Neonate with CLOVES Syndrome.  

PubMed

Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome is a recently delineated disorder that comprises vascular malformations (typically truncal), dysregulated adipose tissue, scoliosis, enlarged bony structures (typically of the legs) without progression, or distorting bony overgrowth. The name CLOVE was subsequently extended to CLOVES to emphasize the association with scoliosis/skeletal and spinal anomalies and seizures/central nervous system malformations. We herein report a very rare case of CLOVES syndrome with the findings of lipomatous overgrowth in the cheek (facial asymmetry), vascular malformation (hemangiomas), epidermal nevi (large port wine stains), and skeletal abnormalities (widened first interdigital space, dystrophia in the nail of the first digit of the right foot, and bilateral hypertrophy of the first digits of the feet). PMID:25400966

Sarici, Dilek; Akin, Mustafa Ali; Kurtoglu, Selim; Tubas, Filiz; Sarici, Serdar Umit

2014-01-01

114

Sonographic markers for early diagnosis of fetal malformations  

PubMed Central

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

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

115

Acute Porphyria in a Patient with Arnold Chiari Malformation  

PubMed Central

Patient: Female, 33 Final Diagnosis: Acute porphyria Symptoms: Abdominal pain • alternating bowel habits Medication: Metronidazole • bactrim • oxybutynin Clinical Procedure: EMG • porhyria workup Specialty: Neurology Objective: Rare disease Background: Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with comorbidities. Case Report: A women with Arnold Chiari malformation type II who was treated with oxybutynin and antibiotics, including Bactrim for neurogenic bladder and recurrent urinary tract infection, presented with non-specific abdominal pain, constipation, and diarrhea. After receiving Flagyl for C. difficile colitis, the patient developed psychosis, ascending paralysis, and metabolic derangements. She underwent extensive neurological workup due to her congenital neurological abnormalities, most of which were unremarkable. As a differential diagnosis of Guillain Barré syndrome, acute porphyria was then considered and ultimately proved to be the diagnosis. After hematin administration and intense rehabilitation, the patient slowly recovered from the full-blown acute porphyria attack. Conclusions: This case report, for the first time, documents acute porphyria attack as a result of a sequential combination of 3 common medications. This is the first case report of the concomitant presence of both acute porphyria and Arnold Chiari malformation, 2 genetic disorders with unclear association. PMID:25697467

Shen, Jianbin; O’Keefe, Kevin; Webb, Lisa B.; DeGirolamo, Angela

2015-01-01

116

Haemangiomas and vascular malformations of the limb in children.  

PubMed

Haemangiomas and vascular malformations of the limb in children are often difficult to manage. The role of surgery and intervention in current management is still not clear. The aim of this study was to review our experience of such patients. Patients were identified using the health board database of inpatient admissions between 1999 and 2003. Clinical notes were reviewed and data collected looking at patient demographics, site of lesion, clinical findings, investigative procedures, intervention and follow-up. A total of 288 patients were identified with a diagnosis of "Haemangioma" or "vascular malformation". Thirty-eight of these patients were found to have limb haemangiomas or vascular malformations (20 boys and 18 girls). The median age at referral was 1.9 years (0-13.2). The clinical presentation included gigantism, swelling, bruising, bleeding and cosmetic concern. Cosmetic concerns and bleeding being the most frequent. Investigative modalities were used in 19 patients. These included ultrasound, CT, MRI and angiography. Many patients had more then one imaging modality employed. Treatment options included observation, steroids, laser, embolisation and surgical excision. Twenty-five patients (66%) required surgical intervention. Most patients were required one or two procedures, mainly laser or simple excision. However two patients required multiple procedures while one patient with Kasabach-Merritt syndrome required a limb amputation. Patients were followed-up for a median of 3.75 years (0.08-14). Two patients were lost to follow-up. Two patients were noted to have related psychological problems. Haemangiomas and vascular malformations of the limb can be associated with significant functional impairment, especially if they are extending to deeper tissue planes. Such patients are likely to require surgical intervention. For many patients referred to tertiary care, surgery is still the mainstay of treatment and the only curative option. Serious complications were more common in patients with arterio-venous malformations and Kasabach-Merritt syndrome. Two of 38 patients (5.3%) were referred for formal psychological assessment. Given the potential for psychological morbidity we fear this is an aspect of care that may be under-recognised and require further specialist input. PMID:17390139

Steven, Mairi; Kumaran, Nagarajan; Carachi, Robert; Desai, Ashish; Bennet, George

2007-06-01

117

Cryptic vascular malformations involving the brainstem  

SciTech Connect

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.

Yeates, A.; Enzmann, D.

1983-01-01

118

Radiological Evaluation of Myelomeningocele — Chiari II Malformation  

Microsoft Academic Search

Myelomeningocele (MMC) is a malformation characterized by the failure of closure of the neural tube, usually (but not only)\\u000a at the lumbo-sacral level. Synonyms are spina bifida aperta, open spinal dysra — phism, and Chiari II malformation complex.\\u000a MMC is typically associated with a metamerically consistent paraplegia, a posterior fossa deformity known as the Chiari II\\u000a malformation, hydrocephalus, and a

Charles Raybaud; Elka Miller

119

Autosomal dominant sacral agenesis: Currarino syndrome  

PubMed Central

Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allowing identification of asymptomatic heterozygotes. In this review, we have performed an analysis of medical publications, and our own additional cases, to identify the range of malformations and complications that occur. We have also estimated risks of malformation in heterozygotes by using Weinburg's proband method on families personally known to us in order to provide accurate genetic counselling information.???Keywords: sacral agenesis; presacral mass; anorectal malformation; Currarino triad PMID:10922380

Lynch, S. A.; Wang, Y.; Strachan, T; Burn, J.; Lindsay, S.

2000-01-01

120

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)  

Microsoft Academic Search

Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is a rare, congenital, neurocutaneous disorder. It is characterized\\u000a by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations.\\u000a Mental retardation and epilepsy may compromise the clinical status.

Sergiusz Jó?wiak; Ignacio Pascual-Castroviejo

121

Acrocallosal syndrome: new findings.  

PubMed

We describe a 21-month-old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy-Walker malformation, imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome. PMID:2729349

Moeschler, J B; Pober, B R; Holmes, L B; Graham, J M

1989-03-01

122

Ultrasound diagnosis and perinatal management of surgically correctable fetal malformations.  

PubMed

Among 276 fetal malformations detected during the nine year period there were 97 potentially correctable anomalies which are described in detail as are the antenatal and postnatal corrective procedures undertaken. On 35 hydrocephalic fetuses 9 were operated upon postnatally in the last 2 yr. Three months after the operation four of the babies were found to be developing normally, three moderately well while two were severely retarded. Two out six babies with cystic hygroma were successfully operated after birth and their development is now normal. Of 23 malformations of the gastro-intestinal tract (two diaphragmatic hernias, three esophageal, four duodenal and four jejunal atresias, seven omphalocele, three gastroschisis) 13 babies were successfully operated and are developing normally. In 8 out of 10 antenatally detected cases of obstructive uropathy antenatal intervention was undertaken. In one case a shunt catheter was inserted for the last three weeks before delivery. Puncture and urine evacuation was performed in seven of the babies. Five were live born and surgical correction was successfully undertaken after birth, while two died (one multiple malformations and the other respiratory distress syndrome). After excluding multiple and chromosomal anomalies the best results are obtained in the correction of gastro-intestinal tract atresia (9 of 11) and obstructive uropathy (5 of 7), where once a passage has been established the baby develops normally. Interventions such as shunts in hydrocephalic babies are always a matter for discussion in relation to the final outcome, but when there is no other choice, this too is a way of endeavouring to help such a baby. Early antenatal diagnosis is therefore extremely important when interruption of pregnancy is still feasible. In cases of malformations detected at a later gestational age early diagnosis facilitates the assessment of the development of the affected organ, possible timely antenatal correction, team consultation regarding the time and mode of delivery and preparations for postnatal correction. Such an antenatal approach makes it possible to significantly influence the perinatal outcome. PMID:6239438

Kurjak, A; Gogolja, D; Kogler, A; Latin, V; Rajhvajn, B

1984-01-01

123

Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome).  

PubMed

Ectrodactyly-ectodermal dysplasia- clefting syndrome (also k/a. split hand- split foot malformation /split hand-split foot ectodermal dysplasia- cleft syndrome/ectodermal dysplasia cleft lip/cleft palate syndrome) a rare form of ectodermal dysplasia, is an autosomal dominant disorder inherited as a genetic trait and characterized by a triad of (i) ectrodactyly, (ii) ectodermal dysplasia and, (iii) & facial clefts. PMID:25737931

Koul, Monika; Dwivedi, Rahul; Upadhyay, Vinod

2014-01-01

124

Microdeletion 3q syndrome.  

PubMed

The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary approach. The patient had 3q interstitial chromosome deletion (q22.1-q25.2). He showed the following clinical features: microcephaly, microphthalmia, epicantus inversus, blepharophimosis, palpebral ptosis, short neck with pterygium, brachycephaly, round face, hypotelorism, broad nasal bridge, beaked nose, large and low-set ears, soft cleft palate, retromicrognathia with large mouth, arthrogryposis of the superior limbs and knees in association with clinodactyly, overlapping of second and third digits of both hands and feet, and gastroesophageal reflux. The patient developed physical and motor development delay. He was affected by Dandy-walker malformation, characterized by cerebellum vermis hypoplasia. The placement of the patient in contiguous gene syndrome (Dandy walker syndrome, Pierre-Robin sequence, and Seckel syndrome) was carried out by a multidisciplinary team to have a holistic evaluation of clinical findings. Thanks to this approach, it was possible to establish a complete diagnostic and therapeutic course. The genetic analysis enables to arrange an assistive program. Surgeons' attention was focused on the malformations, which represented an obstacle for normal development and social life. PMID:22067867

Ramieri, Valerio; Tarani, Luigi; Costantino, Francesco; Basile, Emanuela; Liberati, Natascia; Rinna, Claudio; Cascone, Piero; Colloridi, Fiorenza

2011-11-01

125

Scalp arteriovenous malformations in young  

PubMed Central

Scalp arteriovenous malformations are an exceptional group of vascular lesions with curious presentations and an elusive natural history. Their detection in the pediatric population is a rarer occurrence. We discuss our experience with five children suffering from this pathology and their surgical management carried at our institution from 2007 to 2013. The genesis in pediatric patients is, usually, spontaneous in contrast with the history of trauma seen in adults. Clinical symptoms, usually, range from an asymptomatic lesion, local discomfort, headaches to necrosis and massive hemorrhage. Selective angiography remains the cornerstone for investigation. Complete surgical excision, embolization or an approach combining the modalities is curative. PMID:25624933

Gupta, Rakesh; Kayal, Akshat

2014-01-01

126

Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations  

PubMed Central

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

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

2013-01-01

127

Alagille syndrome.  

PubMed Central

Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome. Images PMID:9039994

Krantz, I D; Piccoli, D A; Spinner, N B

1997-01-01

128

Intramedullary spinal cord cavernous malformations.  

PubMed

Although originally the subject of rare case reports, intramedullary spinal cord cavernous malformations (CMs) have recently surfaced in an increasing number of case series and natural history reports in the literature. The authors reviewed 27 publications with 352 patients to consolidate modern epidemiological, natural history, and clinical and surgical data to facilitate decision making when managing these challenging vascular malformations. The mean age at presentation was 42 years without a sex predilection. Thirty-eight percent of the cases were cervical, 57% thoracic, 4% lumbar, and 1% unspecified location. Nine percent of the patients had a family history of CNS CMs. Twenty-seven percent of the patients had an associated cranial CM. On presentation 63% of the patients had motor deficits, 65% had sensory deficits, 27% had pain, and 11% had bowel or bladder dysfunction. Presentation was acute in 30%, recurrent in 16%, and progressive in 54% of cases. An overall annual hemorrhage rate was calculated as 2.5% for 92 patients followed up for a total of 2571 patient-years. Across 24 reviewed surgical series, a 91% complete resection rate was found. Transient morbidity was seen in 36% of cases. Sixty-one percent of patients improved, 27% were unchanged, and 12% were worse at the long-term follow-up. Using this information, the authors review surgical nuances in treating these lesions and propose a management algorithm. PMID:20809755

Gross, Bradley A; Du, Rose; Popp, A John; Day, Arthur L

2010-09-01

129

North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

Created in June, 1997 and funded by the US Geological Survey and Environmental Protection Agency, this site is a response to the discovery of numerous deformed amphibians (mostly frogs) in areas as widespread as Minnesota, California, and Florida. Malformations include extra or missing limbs, missing eyes, and split limbs. The site is intended to serve as a central repository for data on the type and relative frequency of such malformations throughout the US. Researchers hope to use the site to help discover the cause(s) of these deformities. The site contains a map of where malformations have been reported, background on the occurrence and possible causes of defects, numerous images of malformed amphibians, a searchable bibliography, instructions on how to report the discovery of a malformed amphibian, and links to eight related web sites. NARCAM's site also contains a toll-free number for citizen reports.

Northern Prairie Wildlife Research Center.

1997-01-01

130

Evaluation of the association of zoonotic Ljungan virus with perinatal deaths and fetal malformation.  

PubMed

More and more epidemiologic and experimental data support the notion that Ljungan virus (LV), originally isolated from some rodent populations in Sweden, Denmark, and the United States, plays an important role in stillbirth and fetal malformation. Mouse dams infected with LV may result in uterine resorption and perinatal deaths that may cross generations, and their offspring may suffer high rates of malformations including cranial, brain, and limb malformations. In humans, researches founded that LV infection is related to malformation, intrauterine fetal death, and even central nervous system malformation. Although molecularly characterized, little is known about the biophysical nature of LV. Consequently, the role of LV infections in sudden infant death syndrome is still confusing, and the mechanism of how LV infections cause diseases is not clear. More research is clearly necessary to explore the mechanisms of LV infection in human and animal diseases to bring improvement to the clinical outcomes. Birth Defects Research (Part C) 105:81-85, 2015. © 2015 Wiley Periodicals, Inc. PMID:25789980

Zheng, Lili; Wang, Fang; Huang, Jing; Xin, Hong

2015-03-01

131

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

Microsoft Academic Search

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.

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

1991-01-01

132

Midline cerebral malformations and schizophrenia.  

PubMed

To investigate a possible association of midline cerebral malformations with psychotic disorders, MRI and CT scans were blindly evaluated for 52 patients with schizophrenia, 9 with schizoaffective disease, and 79 consecutive nonpsychotic control subjects. Midline abnormalities were present in 10 of 61 patients (16.4%) versus 4 of 79 control subjects (5.1%; P < 0.05, chi-square). Of 52 schizophrenic patients, 8 had abnormalities of the septum pellucidum (SP): 5 had cavum vergae (CaV), 2 had cavum septum pellucidum (CaSP), and 1 had agenesis of the corpus callosum and SP. Of 9 schizoaffective patients, 2 had SP abnormalities: 1 CaV and 1 CaSP. Abnormalities of the SP, especially CaV, were significantly more frequent in women than in men (P < 0.02, chi-square). PMID:8369638

Scott, T F; Price, T R; George, M S; Brillman, J; Rothfus, W

1993-01-01

133

Hamartomatous polyposis syndromes  

PubMed Central

Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation. PMID:23724922

2013-01-01

134

Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: further delineation of the trisomy 1q syndrome.  

PubMed Central

We report a dysmorphic boy with a de novo partial trisomy 1q. The boy has microcephaly, bilateral cleft lip and palate, low set and dysmorphic ears, brain anomalies, pulmonary stenosis, duodenal obstruction, dysplastic kidneys, and bifid thumbs. The trisomic segment 1q32-qter is duplicated with an inverted insertion at 1p36.3. The aberration was initially detected at amniocentesis and confirmed and defined by GTG banding, chromosome microdissection, and FISH on postnatal blood samples. The parents had normal karyotypes. De novo partial duplications of chromosome 1q have rarely been reported. Comparison of our patient with other published pure trisomy 1q cases showed similarities which allowed the further delineation of the trisomy 1q syndrome. Images PMID:9138155

Duba, H C; Erdel, M; Löffler, J; Bereuther, L; Fischer, H; Utermann, B; Utermann, G

1997-01-01

135

Cephalic Pancreaticoduodenectomy for Bleeding Duodenal Arteriovenous Malformation  

PubMed Central

Introduction?Treatment of recurrent severe gastrointestinal bleeding due to arteriovenous malformations may require complex resections. In some particular locations, extensive surgery is the only way out, as shown in this report. Case Report?A 2.5-year-old child suffered repeated episodes of upper gastrointestinal bleeding since the first month of life. After an extensive diagnostic workout, the diagnosis of duodenal arteriovenous malformation was established. Cephalic pancreaticoduodenectomy with pyloric preservation was performed and no further episodes of bleeding occurred in the ensuing 2 years. Conclusion?Bleeding malformations located in the pancreaticoduodenal area can be effectively treated in children by pylorus-preserving cephalic pancreaticoduodenectomy. PMID:25755960

Ortiz, Ruben; Dominguez, Eva; Barrena, S.; Martinez, Leopoldo; Prieto, Gerardo; Burgos, Emilio; Tovar, Juan Antonio

2014-01-01

136

A gene map of congenital malformations.  

PubMed Central

Congenital malformations frequently arise sporadically, making it difficult to determine whether or not they are genetic in aetiology, let alone which gene(s) may be involved. Nevertheless, rapid progress has been made over recent years in the localisation and identification of gene mutations in specific malformations. This review draws from Mendelian inheritance in man (Johns Hopkins University Press, 11th ed, 1994) and the online version (OMIM) to catalogue 139 loci (including 65 specifically identified genes) implicated in congenital malformations. Some of the most interesting recent developments are discussed. PMID:7966186

Wilkie, A O; Amberger, J S; McKusick, V A

1994-01-01

137

Meckel syndrome.  

PubMed Central

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

Salonen, R; Paavola, P

1998-01-01

138

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

PubMed Central

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

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

2012-01-01

139

Analysis of Maternal Risk Factors Associated With Congenital Vertebral Malformations  

PubMed Central

Study Design A retrospective chart review of cases with congenital vertebral malformations (CVM) and controls with normal spine morphology. Objective To determine the relative contribution of maternal environmental factors (MEF) during pregnancy including maternal insulin dependent diabetes mellitus, valproic acid, alcohol, smoking, hyperthermia, twin gestation, assisted reproductive technology, in-vitro fertilization and maternal clomiphene usage to CVM development. Summary of Background Data Congenital vertebral malformations (CVM) represent defects in formation and segmentation of somites occurring with an estimated incidence of between 0.13–0.50 per 1000 live births. CVM may be associated with congenital scoliosis, Klippel-Feil syndrome, hemifacial microsomia and VACTERL syndromes, and represent significant morbidity due to pain and cosmetic disfigurement. Methods A multicenter retrospective chart review of 229 cases with CVM and 267 controls with normal spine morphology between the ages of 1–50 years was performed in order to obtain the odds ratio (OR) of MEF related to CVM among cases vs. controls. CVM due to an underlying syndrome associated with a known gene mutation or chromosome etiology were excluded. An imputation based analysis was performed in which subjects with no documentation of MEF history were treated as no maternal exposure.” Univariate and multivariate analysis was conducted to calculate the OR. Results Of the 229 total cases, 104 cases had single or multiple CVM without additional congenital malformations (CM) (Group 1) and 125 cases had single or multiple CVM and additional CM (Group 2). Nineteen percent of total cases had an identified MEF. The OR (95% CI, P-value) for MEF history for Group 1 was 6.0 (2.4–15.1, P<0.001) in the univariate analysis. The OR for MEF history in Group 2 was 9.1 (95%CI, P-value) (3.8–21.6, P<0.001) in the univariate analysis. The results were confirmed in the multivariate analysis, after adjusting for age, gender, and institution. Discussion These results support a hypothesis for an association between the above MEF during pregnancy and CVM and have implications for development of prevention strategies. Further prospective studies are needed to quantify association between CVM and specific MEF. PMID:23446706

Hesemann, Jennifer; Lauer, Emily; Ziska, Stephen; Noonan, Kenneth; Nemeth, Blaise; Scott-Schwoerer, Jessica; McCarty, Catherine; Rasmussen, Kristen; Goldberg, Jacob M.; Sund, Sarah; Eickhoff, Jens; Raggio, Cathleen L.; Giampietro, Philip F.

2014-01-01

140

Poland Syndrome: Description of an Atypical Variant  

Microsoft Academic Search

Poland syndrome comprises a 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 males, and usually occurs on the right hemithorax in the unilateral form. The syndrome is believed to be caused by a genetic disorder that reduces the embryonal circulation in the

G. A. Ferraro; A. Perrotta; F. Rossano; F. D’Andrea

2005-01-01

141

Smith-Lemli-Opitz Syndrome: A Case with Annular Pancreas  

PubMed Central

Smith-Lemli-Opitz syndrome is an autosomal recessive disease of cholesterol metabolism. It is a multiple malformation syndrome with typical dysmorphic features such as bitemporal narrowing, ptosis, epicanthus, microcephaly, micrognathia, and cardiovascular, skeletal, urogenital, and gastrointestinal anomalies. This report presents a typical case of Smith-Lemli-Opitz syndrome with annular pancreas which is an unreported gastrointestinal abnormality. PMID:25165593

Demirdöven, Mehmet; Yazgan, Hamza; Korkmaz, Mevlit; Gebe?çe, Arzu; Tonbul, Alparslan

2014-01-01

142

Genetics Home Reference: Blepharophimosis, ptosis, and epicanthus inversus syndrome  

MedlinePLUS

... risk of developing vision problems such as nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. They may ... egg ; gene ; infertility ; inherited ; lazy eye ; malformation ; mutation ; myopia ; nearsightedness ; ovarian ; philtrum ; prevalence ; protein ; ptosis ; strabismus ; syndrome ...

143

Ileocaecal arterio-venous malformation associated with extrahepatic portal hypertension: a case report  

Microsoft Academic Search

This paper is a case report describing a boy with Down syndrome and a novel combination of multiple vascular anomalies: extrahepatic\\u000a portal hypertension, an arterio-venous malformation (AVM) at the ileo-caecal junction, and caval\\/iliac vein anomalies and\\u000a developing anal bleeding. We considered that the ileo-caecal AVM would be one of the causes of the repeated hematochezia.\\u000a The patient underwent ileo-caecal resection

Y. Tatekawa; T. Muraji; C. Tsugawa

2005-01-01

144

Genetics Home Reference: Cerebral cavernous malformation  

MedlinePLUS

... inheritance ; malformation ; mutation ; nervous system ; pattern of inheritance ; population ; protein ; retina ; sporadic You may find definitions for these and many other terms in the Genetics Home Reference Glossary . See also Understanding Medical Terminology . ...

145

Malformation and plastic surgery in childhood  

PubMed Central

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

Siegert, Ralf; Magritz, Ralph

2014-01-01

146

Stewart-Bluefarb syndrome: a case report with angiographic findings.  

PubMed

Acroangiodermatitis is a group of benign, angioproliferative cutaneous disease caused by chronic venous insufficiency, acquired or congenital arteriovenous shunts and limb paralysis. Stewart-Bluefarb syndrome is the type of acroangiodermatitis which is associated with a congenital arteriovenous malformation. This is a rare syndrome characterized by cutaneous kaposiform lesions that usually onset at the second decade. In this report, a case of acroangiodermatitis associated with a congenital arteriovenous malformation, which has been diagnosed after 40 years, is described. PMID:19583690

Turk, Bengu Gerceker; Turk, Ugur Onsel; Alioglu, Emin; Akalin, Taner; Dereli, Tugrul

2009-07-01

147

Cataract surgery in Knobloch syndrome: a case report  

PubMed Central

Knobloch syndrome is an autosomal recessive disorder associated with early-onset ocular abnormalities and central nervous system malformations. Ocular abnormalities are usually severe, and include high myopia, vitreoretinal degeneration, retinal detachment, macular abnormalities, and cataract. The most frequent systemic changes are midline malformations of the brain, ventricular dilation, and occipital encephalocele. Cognitive delay may occur. We report a case of cataract in a child with Knobloch syndrome. Cataract surgery and follow-up are described. PMID:21691582

Bongiovanni, Carmen Sílvia; Ferreira, Carla Cristina Serra; Rodrigues, Ana Paula Silvério; Filho, João Borges Fortes; Tartarella, Márcia Beatriz

2011-01-01

148

Prenatal Diagnosis of Treacher-Collins Syndrome Using Three-Dimensional Ultrasonography and Differential Diagnosis with Other Acrofacial Dysostosis Syndromes  

PubMed Central

Treacher-Collins syndrome (TCS) is a rare dominant autosomal anomaly resulting from malformation or disruption of the development of the first and second branchial arches. It is characterized by micrognathia, malar hypoplasia, and malformations of the eyes and ears. The prenatal diagnosis using two-dimensional ultrasonography (2DUS) is characterized by identification of facial malformations together with polyhydramnios. Three-dimensional ultrasonography (3DUS) has the capacity to spatially display these facial malformations, thus making it easy for the parents to understand them. We present a case of TCS diagnosed in the 33rd week using 3DUS, with postnatal confirmation using cranial computed tomography and anatomopathological analysis. PMID:23653874

Pereira, Daniela Cardoso; Bussamra, Luiz Claudio Silva; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

2013-01-01

149

Favorable Seizure Outcome in Kabuki Make-up Syndrome Associated With Epilepsy  

Microsoft Academic Search

Kabuki make-up syndrome is a mental retardation—malformation syndrome affecting multiple organ systems, with a broad spectrum of neuromuscular dysfunction and mental ability. The incidence of seizures associated with this syndrome ranges from 10 to 40%. However, details of the seizures in this syndrome have not been adequately reported or thoroughly evaluated. In this study, we analyzed seizure characteristics and clinical

Atsushi Ogawa; Sawa Yasumoto; Yasuko Tomoda; Masaharu Ohfu; Akihisa Mitsudome; Yoshikazu Kuroki

2003-01-01

150

Nature, frequency and natural history of intracranial cavernous malformations in adults   

E-print Network

Scottish Intracranial Vascular Malformation Study was the first prospective, population-based study of the major types of intracranial vascular malformations; arteriovenous, cavernous and venous malformations including ...

Hall, Julie Maria

2014-07-05

151

Delleman (Oculocerebrocutaneous) Syndrome: Case report  

PubMed Central

Delleman syndrome is an unusual entity, characterized by ocular cysts or microphthalmia, focal dermal anomalies and cerebral malformations. In the following article, we carry out a review of the disease and we present the case of a patient with microphthalmos and palpebral coloboma. As we could not put orbital expanders at an early stage, we performed reconstructive surgery. PMID:25005212

Ortiz-Basso, Tomás; Vigo, Rodolfo; Iacouzzi, Sebastián; Prémoli, Jorge

2014-01-01

152

Vascular origin of Poland syndrome?  

Microsoft Academic Search

Vascularization of the arms has been studied by impedance plethysmography (rheography) in eight children with Poland syndrome, a common malformation characterized by unilateral hand anomaly and ipsilateral aplasia of the inferior head of the pectoralis major muscle. A marked decrease of the velocity of the systolic increase in the arterial volume (Velm) was shown in the affected arms, and the

Jean-Pierre Bouvet; Denis Leveque; Francine Bernetieres; Jean-Jacques Gros

1978-01-01

153

Fetal alcohol syndrome: Behavioral teratology  

Microsoft Academic Search

The fetal alcohol syndrome (FAS) is a pattern of physical malformations observed in the offspring of women who drink alcohol during pregnancy. The most serious effect of in utero exposure to alcohol is mental retardation. Although the physical characteristics associated with the FAS have been attributed to the direct effects of alcohol, conditions secondary to alcohol intake (e.g., altered nutrition)

Ernest L. Abel

1980-01-01

154

Pulmonary arteriovenous malformation mimicking congenital cystic adenomatoid malformation in a newborn  

Microsoft Academic Search

Congenital pulmonary arteriovenous malformations (AVMs) are rare lesions, usually asymptomatic. We report on the case of a baby who was thought to have a congenital cystic adenomatoid malformation of the left upper lobe based on prenatal and postnatal imaging. Final pathology revealed a congenital pulmonary AVM. Neither the child nor her family have any evidence of hereditary hemorrhagic telangiectasia. To

Andreana Bütter; Mohammad Emran; Ayman Al-Jazaeri; Dorothée Bouron-Dal Soglio; Sarah Bouchard

2006-01-01

155

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

PubMed

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

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

2014-01-01

156

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

SciTech Connect

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.

Gale, T.F.

1980-11-01

157

Complete Currarino Syndrome Recognized in Adulthood  

PubMed Central

Currarino syndrome is a hereditary pathology that is characterized by sacrococcygeal bone defect, presacral mass, and anorectal malformation. Sacrococcygeal bone defect is almost always a part of the syndrome. The complete form of this entity displays all three abnormalities and is very uncommon. In this report, we present the magnetic resonance imaging findings of a case with complete form of Currarino syndrome recognized in adulthood.

Akay, Sinan; Battal, Bilal; Karaman, Bulent; Bozkurt, Yalcin

2015-01-01

158

Copy number variations in children with brain malformations and refractory epilepsy.  

PubMed

Brain malformations are a major cause of therapy-refractory epilepsy as well as neurological and developmental disabilities in children. This study examined the frequency and the nature of copy number variations among children with structural brain malformations and refractory epilepsy. The medical records of all children born between 1990 and 2009 in the epilepsy registry at the Astrid Lindgren's Children's Hospital were reviewed and 86 patients with refractory epilepsy and various brain malformations were identified. Array-CGH analysis was performed in 76 of the patients. Pathogenic copy number variations were detected in seven children (9.2%). In addition, rearrangements of unclear significance, but possibly pathogenic, were detected in 11 (14.5%) individuals. In 37 (48.7%) patients likely benign, but previously unreported, copy number variants were detected. Thus, a large proportion of our patients had at least one rare copy number variant. Our results suggest that array-CGH should be considered as a first line genetic test for children with cerebral malformations and refractory epilepsy unless there is a strong evidence for a specific monogenic syndrome. © 2015 Wiley Periodicals, Inc. PMID:25691404

Wincent, Josephine; Kolbjer, Sintia; Martin, Daniel; Luthman, Aron; Åmark, Per; Dahlin, Maria; Anderlid, Britt-Marie

2015-03-01

159

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

PubMed Central

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

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

160

Currarino syndrome and spinal dysraphism.  

PubMed

Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural spinal lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a lipoma and lower among those with a teratoma or anterior meningocele. PMID:24745342

Kole, Matthew J; Fridley, Jared S; Jea, Andrew; Bollo, Robert J

2014-06-01

161

Treacher Collins Syndrome  

PubMed Central

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

Chang, Christopher C.; Steinbacher, Derek M.

2012-01-01

162

Bisphenol A induces otolith malformations during vertebrate embryogenesis  

E-print Network

Bisphenol A induces otolith malformations during vertebrate embryogenesis Gibert et al. Gibert et) #12;RESEARCH ARTICLE Open Access Bisphenol A induces otolith malformations during vertebrate Background: The plastic monomer and plasticizer bisphenol A (BPA), used for manufacturing polycarbonate

Paris-Sud XI, Université de

163

Extrapyramidal dysfunction with cerebral arteriovenous malformations 1  

PubMed Central

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

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

1974-01-01

164

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience  

SciTech Connect

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.

Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

2013-06-15

165

Lethal pallister-killian syndrome: Phenotypic similarity with fryns syndrome  

SciTech Connect

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.

Ignacio Rodriquez, J.; Garcia, I.; Alvarez, J.; Delicado, A.; Palacios, J. [La Paz Hospital, Madrid (Spain)

1994-11-01

166

Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.  

PubMed

Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases. PMID:20160426

Ba?ci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

2010-01-01

167

Extracorporeal Shock Wave Lithotripsy in Ureteral and Kidney Malformations  

Microsoft Academic Search

Introduction: Extracorporeal shock wave lithotripsy (SWL) has long been accepted worldwide in the treatment of kidney stone disease. Upper ureter calculi in ureteral and kidney malformations are rather frequent (10–25%). The aims of this retrospective study were to determine whether malformations might impair fragment expulsion. Material and Methods: From 1986 to 1995, 203 patients with ureteral and kidney malformations were

Michele Gallucci; Andrea Vincenzoni; Manlio Schettini; Pasquale Fortunato; Antonella Cassanelli; Antonio Zaccara

2001-01-01

168

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

PubMed

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

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

2014-12-01

169

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

SciTech Connect

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.

Marchuk, D.A.; Gallione, C.J. [Duke Univ. Medical Center, Durham, NC (United States)] [Duke Univ. Medical Center, Durham, NC (United States); Morrison, L.A.; Davis, L.E.; Clericuzio, C.L. [Univ. of New Mexico School of Medicine, Albuquerque, NM (United States)] [and others] [Univ. of New Mexico School of Medicine, Albuquerque, NM (United States); and others

1995-07-20

170

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

PubMed

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

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

2014-09-01

171

Angiographically occult arteriovenous malformations of the brain  

PubMed Central

Six patients with cerebral arteriovenous malformations which did not show any pathological circulation at angiography are described. Computed tomogram appearances of such lesions may be difficult to distinguish from tumours. The need for surgical exploration in localised high attenuation lesions of uncertain nature is stressed, and the literature is reviewed. Images PMID:731249

Bell, B. A.; Kendall, B. E.; Symon, L.

1978-01-01

172

Familial Dandy-Walker malformation and leukodystrophy  

Microsoft Academic Search

We report the first familial cases with two different types of posterior fossa cystic malformation and a leukodystrophic-like aspect on cerebral magnetic resonance imaging (MRI). The girl and her brother had severe encephalopathy, marked hypotonia, absent deep tendon reflexes, macrocrania, gigantism, and dysmorphic face and extremities. The girl had generalized seizures. The boy had unilateral cataract and bilateral optic atrophy.

Véronique T. Humbertclaude; Philippe A. Coubes; Nicolas Leboucq; Bernard B. Echenne

1997-01-01

173

Bronchopulmonary foregut malformations. The spectrum of anomalies.  

PubMed

Ventral anomalies of accessory pulmonary tissue have been classified as "bronchopulmonary foregut malformations." Between July 1, 1981, and May 31, 1985, 10 children with bronchopulmonary malformations have been cared for on the Pediatric Surgical Service at the University of Virginia. Six patients had bronchogenic cysts, one in an extrathoracic location and one associated with a pulmonary sequestration. Diagnosis was suspected in each case by plain chest radiographs and confirmed by computed tomography scans and ultrasound. Four patients had pulmonary sequestrations, two in association with diaphragmatic hernias. One patient had accessory pulmonary tissue, best classified as a tracheal lobe. Diagnosis in this patient was confirmed by bronchography. Nine patients underwent excision of the malformation without event. In one patient, a bronchogenic cyst was treated successfully by thoracoscopy. Review of the anatomy of these malformations leads to the conclusion that three embryologic events are cardinal in determining their ultimate form: (1) investment of the anomalous pulmonary tissue by the pulmonary artery; (2) the degree of involution of the original foregut communication; and (3) the stage of development leading to pleural investment. PMID:3707230

Rodgers, B M; Harman, P K; Johnson, A M

1986-05-01

174

TMJ Morphology and Function in a Patient with Klippel-Trenaunay Syndrome  

Microsoft Academic Search

Klippel-Trenaunay syndrome is a rare congenital mesodermal disturbance of uncertain etiology in variable expression. The classic manifestation is the triad of congenital mesodermal abnormalities. Clinical, a diversity of phenotypes with subjacent malformations may be encountered. The deviations of the mesioblastic germ layer affecting angioblastic, lymphoblastic and osteoblastic structures, may give rise to malformations either alone or in an unlimited diversity

Constanze Linge; Thomas M. Präger

2000-01-01

175

[Toe transplantation in congenital malformations of the hand].  

PubMed

Toe transfer is a well established procedure for thumb and finger reconstruction after mutilation. The indications in congenital malformations are a mater of controversy. Out of a personal series of 209 patients, 42 were children presenting a congenital malformation. Thirty six, with 46 transfers were available for review. There is only one failure at the beginning of our experience. The main indication was absence of pinch either due to absence of thumb (like in congenital band syndrome or some extreme cases of ulnar club hand or cleft hand) or absence of long finger (like in symbrachydactyly monodactylous type) or lack of both thumb and finger (like in peromelic type of symbrachydactyly). In this last type, we have been disappointed by the functional result of the distal implantation of two second toes taken from both feet; we have proposed a "stub" operation consisting in a second toe transfer on the anterior aspect of the radial epiphysis to take advantage of the mobility of the wrist and the availability of plenty tendon transfer (in this proximal situation). When planing to "built" an absent pincer, an early age is mandatory for operation (mean 12 months), to ensure a good cortical integration. A less frequent indication is a partial toe transfer with a vascularized epiphysis to provide growth and mobility in some cases of thumb hypoplasia (like in symbrachydactyly or Blauth and Manske type III b). Results are difficult to assess due to the early operation but if the mobility has been disappointing (mean 32 degrees), sensibility (mean 2PD 5 mm) and growth were excellent. PMID:9554130

Foucher, G

1997-11-01

176

Schinzel-Giedion syndrome with severe deafness and neurodegenerative process.  

PubMed

A case of Schinzel-Giedion syndrome with a follow-up of two and a half years is reported. In addition to the classical features of the syndrome, the patient had severe hearing loss with ossicular and cochlear malformations, alacrymia, and progressive neurodegenerative disease. PMID:10674163

Alembik, Y; Christmann, D; de Saint Martin, A; Eliot, M; Dollfus, H; Pauly, F; Stoll, C

1999-01-01

177

SIRENOMELIA (MERMAID SYNDROME) IN AN INFANT OF A DIABETIC MOTHER  

Microsoft Academic Search

Caudal regression syndrome (caudal dysplasia sequence) is a rare congenital malformation. It has a spectrum ranging from simple anal atresia to the absence of sacral, lumbar and possibly lower thoracic vertebrae and the most severe form called sirenomelia (Mermaid syndrome). Sirenomelia has a sole characteristic which is the lower limbs fusion, with multiple internal structural abnormalities particularly in the renal

F. Davari Tanha; M. Kaveh; Mirza Koochak

178

A clinical study of 57 children with fetal anticonvulsant syndromes  

Microsoft Academic Search

BACKGROUNDAnticonvulsants taken in pregnancy are associated with an increased risk of malformations and developmental delay in the children. To evaluate the pattern of abnormalities associated with prenatal anticonvulsant exposure further, we undertook a clinical study of 57 children with fetal anticonvulsant syndromes.METHODSFifty two children were ascertained through the Fetal Anticonvulsant Syndrome Association and five were referred to the Aberdeen Medical

S J Moore; P Turnpenny; A Quinn; S Glover; D J Lloyd; T Montgomery; J C S Dean

2000-01-01

179

Refinement of the Region for Split Hand\\/Foot Malformation 5 on 2q31.1  

Microsoft Academic Search

Background: Deletions that encompass 2q31.1 have been proposed as a microdeletion syndrome with common clinical features, including intellectual disability\\/developmental delay, microcephaly, cleft palate, growth delay, and hand\\/foot anomalies. In addition, several genes within this region have been proposed as candidates for split hand-foot malformation 5 (SHFM5). Methods: To delineate the genotype-phenotype correlation between deletions of this region, we identified 14

A. Theisen; J. A. Rosenfeld; K. Shane; K. L. McBride; J. F. Atkin; C. Gaba; J. Hoo; T. W. Kurczynski; R. E. Schnur; L. B. Coffey; E. H. Zackai; L. Schimmenti; N. Friedman; M. Zabukovec; S. Ball; R. Pagon; A. Lucas; C. K. Brasington; J. E. Spence; S. Sparks; V. Banks; W. Smith; T. Friedberg; P. R. Wyatt; M. Aust; R. Tervo; A. Crowley; D. Skidmore; A. N. Lamb; B. Ravnan; T. Sahoo; R. Schultz; B. S. Torchia; M. Sgro; D. Chitayat; L. G. Shaffer

2010-01-01

180

GI-Associated Hemangiomas and Vascular Malformations  

PubMed Central

Hemangiomas and vascular malformations of the gastrointestinal tract, rare clinical entities, present as overt or occult bleeding. They can be distributed throughout the intestinal digestive system, or present as a singular cavernous hemangioma or malformation, which is often located in the rectosigmoid region. Misdiagnosis is common despite characteristic radiographic features such as radiolucent phleboliths on plain film imaging and a purplish nodule on endoscopy. Adjunctive imaging such as computed tomography and magnetic resonance imaging are suggested as there is potential for local invasion. Endorectal ultrasound with Doppler has also been found to be useful in some instances. Surgical resection is the mainstay of treatment, with an emphasis on sphincter preservation. Nonsurgical endoscopic treatment with banding and sclerotherapy has been reported with success, especially in instances where an extensive resection is not feasible. PMID:22942801

Yoo, Stephen

2011-01-01

181

Neuropathology of cerebral arteriovenous malformations in children.  

PubMed Central

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

Takashima, S; Becker, L E

1980-01-01

182

Treatment of arteriovenous malformations of the brain  

Microsoft Academic Search

The treatment of ruptured and unruptured brain arteriovenous malformations (AVMs) is driven by the need to prevent incident\\u000a or recurrent intracranial hemorrhages. Improving feasibility of the rapidly developing endovascular, neurosurgical, and radiotherapeutic\\u000a procedures leads to invasive treatment of an increasing number of neurologically intact patients with accidentally diagnosed\\u000a AVMs. Recent data confirm that the natural history risk of unruptured AVMs

Andreas Hartmann; Henning Mast; Jae H. Choi; Christian Stapf; Jay P. Mohr

2007-01-01

183

Statins and congenital malformations: cohort study  

PubMed Central

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

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

184

Developmental genetic malformations of the cerebral cortex  

Microsoft Academic Search

Cortical malformations give rise to severe clinical manifestations such as epilepsy and mental retardation, but sometimes\\u000a to more subtle problems like dyslexia. From a clinical standpoint, such structural abnormalities are diagnosed by radiographic\\u000a and histologic findings, with disease classifications often based on these observations. Using this categorization, many of\\u000a the responsible genes have been determined and now provide a means

Volney L. Sheen; Christopher A. Walsh

2003-01-01

185

Nocturnal apnea in Chiari type I malformation  

Microsoft Academic Search

A 4-year-old girl presented with sleep-disordered breathing. Her parents described breathing pauses of up to 20 s and progressive\\u000a tiredness during the day. Obstructive apneas from an enlarged adenoid were thought to be the most probable cause. However,\\u000a an adenotomy did not resolve the problem. Polysomnography demonstrated central apneas, and cerebral magnetic resonance imaging\\u000a revealed a Chiari type I malformation. We

Lonneke A. M. Aarts; Michèl A. A. P. Willemsen; Nele L. E. VandenBussche; René van Gent

2011-01-01

186

Malformations of cortical development and epilepsy  

PubMed Central

Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures, A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etioiogic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD, The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaiy, classical iissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented. PMID:18472484

Leventer, Richard J.; Guerrini, Renzo; Dobyns, William B.

187

Intraosseous Arteriovenous Malformation of the Sphenoid Bone Presenting with Orbital Symptoms Mimicking Cavernous Sinus Dural Arteriovenous Fistula: A Case Report  

PubMed Central

Intraosseous arteriovenous malformation (AVM) in the craniofacial region is rare. When it occurs, it is predominantly located in the mandible and maxilla. We encountered a 43-year-old woman with Klippel-Trenaunay syndrome affecting the right lower extremity who presented with a left orbital chemosis and proptosis mimicking the cavernous sinus dural arteriovenous fistula. Computed tomography angiography revealed an intraosseous AVM of the sphenoid bone. The patient's symptoms were completely relieved after embolization with Onyx. We report an extremely rare case of intraosseous AVM involving the sphenoid bone, associated with Klippel-Trenaunay syndrome. PMID:24167809

Park, Eun Suk; Jung, Young-Jin; Yun, Jung-Ho; Ahn, Jae Sung

2013-01-01

188

Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome  

PubMed Central

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.

Sharma, Deepak; Lamba, Sachin; Pandita, Aakash; Shastri, Sweta

2015-01-01

189

Adult Presentation of PHACES Syndrome  

PubMed Central

Summary A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome. PMID:21696650

Arora, S.S.; Plato, B.M.; Sattenberg, R.J.; Downs, R.K.; Remmel, K.S.; Heidenreich, J.O.

2011-01-01

190

Epidermal nevus syndrome with maxillary involvement.  

PubMed

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

Kaplan, I; Metzker, A; Calderon, S

1993-10-01

191

Fetal Alcohol Syndrome: A Behavioral Teratology  

Microsoft Academic Search

The Fetal Alcohol Syndrome represents a pattern of physical malformations observed in offspring of women who consume alcohol during pregnancy. Besides physical defects associated with in uteroexposure to alcohol, serious cognitive deficiencies, mental retardation in particular, are now recognized as the most serious consequence of alcohol consumption during prenatal development. The purpose of the present review is to examine the

Kenneth A. Kavale; Belinda D. Karge

1986-01-01

192

Radial club hand and Holt-Oram syndrome.  

PubMed

The authors describe the case of a young African girl born with a radial club hand associated with a pedicled floating thumb, no other orthopaedic malformation was detected. A ventricular septal defect necessitated surgery in emergency. In front of such malformative association, the Holt-Oram syndrome has been evoked. The aim of this study has been to review the etiology and classification of this rather rare malformative association, as well as to describe the therapeutic attitudes and surgical techniques proposed by various authors towards the radial club hand (1, 3, 5, 6, 7, 12). PMID:7502621

Elbaum, R; Royer, M; Godart, S

1995-01-01

193

Sturge–Weber syndrome – A case report  

PubMed Central

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.

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

2015-01-01

194

Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice  

PubMed Central

Malformations of neocortical development are associated with cognitive dysfunction and increased susceptibility to epileptogenesis. Rodent models are widely used to study neocortical malformations and have revealed important genetic and environmental mechanisms that contribute to neocortical development. Interestingly, several inbred mice strains commonly used in behavioral, anatomical, and/or physiological studies display neocortical malformations. In the present report we examine the cytoarchitecture and myeloarchitecture of the neocortex of 11 inbred mouse strains and identified malformations of cortical development, including molecular layer heterotopia, in all but one strain. We used in silico methods to confirm our observations and determined the transcriptional profiles of cells found within heterotopia. These data indicate cellular and transcriptional diversity present in cells in malformations. Furthermore, the presence of dysplasia in nearly every inbred strain examined suggests that malformations of neocortical development are a common feature in the neocortex of inbred mice. PMID:18308707

Ramos, Raddy L.; Smith, Phoebe T.; DeCola, Christopher; Tam, Danny; Corzo, Oscar

2008-01-01

195

Malformations in neotropical viperids: qualitative and quantitative analysis.  

PubMed

Malformations can occur in all living species, but there is little information about anomalies that occur in snakes and their frequency. This study assessed malformations in newborn South American pit vipers (Bothrops jararaca) and South American rattlesnakes (Crotalus durissus) from wild captured pregnant females (240 and 35 litters, respectively). Newborn snakes were measured, weighed, sexed and studied grossly and by radiography for the presence of malformations. Ninety-five malformed pit vipers were identified from 4,087 births (2.3%), while 36 malformed rattlesnakes were found from 324 births (11.1%). Spinal abnormalities were the most common in both species, followed by fusion of ventral scales. Pit vipers showed a greater range of malformations including schistosomia (22.1%), kinked tail (13.7%), bicephaly (3.1%) and hydrocephaly (2.1%). PMID:23885804

Sant'Anna, S S; Grego, K F; Lorigados, C A B; Fonseca-Pinto, A C B C; Fernandes, W; Sá-Rocha, L C; Catão-Dias, J L

2013-11-01

196

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.  

PubMed

Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning-fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria. PMID:11977181

Minn, David; Christmann, Dominique; De Saint-Martin, Anne; Alembik, Yves; Eliot, Mylène; Mack, Geneviève; Fischbach, Michel; Flament, Jacques; Veillon, Francis; Dollfus, Hélène

2002-05-01

197

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

PubMed Central

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

Eivazi, Behfar; Werner, Jochen A.

2014-01-01

198

Upper limb malformations in chromosome 22q11 deletions  

SciTech Connect

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.

Shalev, S.A.; Dar, H.; Barel, H.; Borochowitz, Z. [Bnai Zion Medical Center, Haifa (Israel)

1996-03-29

199

Somatic activation of AKT3 causes hemispheric developmental brain malformations.  

PubMed

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

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

200

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations  

PubMed Central

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

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

201

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

PubMed

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

Chen, Chih-Ping

2008-03-01

202

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.  

PubMed

Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain development, with distinct neuropathological and neuroimaging patterns. They can be associated with additional structural cerebral anomalies, and recurrent phenotypic patterns have led to identification of recognizable syndromes. The lissencephalies are usually single-gene disorders affecting neuronal migration during cerebral cortical development. Polymicrogyria has been associated with genetic and environmental causes and is considered a malformation secondary to abnormal post-migrational development. However, the aetiology in many individuals with these cortical malformations is still unknown. During the past few years, mutations in a number of neuron-specific ?- and ?-tubulin genes have been identified in both lissencephaly and polymicrogyria, usually associated with additional cerebral anomalies including callosal hypoplasia or agenesis, abnormal basal ganglia and cerebellar hypoplasia. The tubulin proteins form heterodimers that incorporate into microtubules, cytoskeletal structures essential for cell motility and function. In this study, we sequenced the TUBB2B and TUBA1A coding regions in 47 patients with a diagnosis of polymicrogyria and five with an atypical lissencephaly on neuroimaging. We identified four ?-tubulin and two ?-tubulin mutations in patients with a spectrum of cortical and extra-cortical anomalies. Dysmorphic basal ganglia with an abnormal internal capsule were the most consistent feature. One of the patients with a TUBB2B mutation had a lissencephalic phenotype, similar to that previously associated with a TUBA1A mutation. The remainder had a polymicrogyria-like cortical dysplasia, but the grey matter malformation was not typical of that seen in 'classical' polymicrogyria. We propose that the cortical malformations associated with these genes represent a recognizable tubulinopathy-associated spectrum that ranges from lissencephalic to polymicrogyric cortical dysplasias, suggesting shared pathogenic mechanisms in terms of microtubular function and interaction with microtubule-associated proteins. PMID:23361065

Cushion, Thomas D; Dobyns, William B; Mullins, Jonathan G L; Stoodley, Neil; Chung, Seo-Kyung; Fry, Andrew E; Hehr, Ute; Gunny, Roxana; Aylsworth, Arthur S; Prabhakar, Prab; Uyanik, Gökhan; Rankin, Julia; Rees, Mark I; Pilz, Daniela T

2013-02-01

203

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

SciTech Connect

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.

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

1988-02-01

204

Scalp-Ear-Nipple Syndrome: A Case Report  

PubMed Central

The scalp-ear-nipple (SEN) syndrome is an infrequent congenital disease. Its main features are scalp defects, malformed ears, and absence of nipples. Most of the reported cases are autosomal dominant. We report on a patient suffering SEN syndrome with possible autosomal recessive inheritance. It is concluded that SEN syndrome should be recognized as an entity with genetic heterogeneity once there is evidence of different genetic manner of inheritance described in this disease. PMID:24660003

Morales-Peralta, Estela; Andrés, Vivian; Campillo Betancourt, Dainé

2014-01-01

205

Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.  

PubMed

Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

1997-07-01

206

Laser treatment of oral vascular malformations  

NASA Astrophysics Data System (ADS)

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.

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

2014-01-01

207

BIOLOGY OF VASCULAR MALFORMATIONS OF THE BRAIN  

PubMed Central

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

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

2009-01-01

208

Pretreatment imaging of peripheral vascular malformations  

PubMed Central

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

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

2015-01-01

209

Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete  

PubMed Central

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

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

2013-01-01

210

Spinal arteriovenous malformation masquerating zoster sine herpete.  

PubMed

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

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

2013-01-01

211

Role of Embolization for Cerebral Arteriovenous Malformations  

PubMed Central

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

Ellis, Jason A.; Lavine, Sean D.

2014-01-01

212

Congenital bronchopulmonary vascular malformations, “sequestration” and beyond  

PubMed Central

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

Irodi, Aparna; Prabhu, Shailesh M; John, Reetu Amrita; Leena, RV

2015-01-01

213

Cri du Chat syndrome  

Microsoft Academic Search

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm\\u000a of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a\\u000a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics,\\u000a and severe psychomotor and mental retardation. Malformations,

Paola Cerruti Mainardi

2006-01-01

214

Phakomatosis Pigmentovascularis Presenting with Sturge-Weber Syndrome and Klippel-Trenaunay Syndrome  

PubMed Central

Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype ‘a’ present only with cutaneous form and subtype ‘b’ also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination. PMID:25657402

Sen, Sumit; Bala, Sanchaita; Halder, Chinmay; Ahar, Rahul; Gangopadhyay, Anusree

2015-01-01

215

Phakomatosis pigmentovascularis presenting with sturge-weber syndrome and klippel-trenaunay syndrome.  

PubMed

Phakomatosis pigmentovascularis (PPV) is a rare cutaneous disorder characterized by combination of capillary malformation and other pigmented naevi. Four types and two subtypes have been described where subtype 'a' present only with cutaneous form and subtype 'b' also with systemic association like in Sturge-Weber syndrome or Klippel-Trenaunay syndrome. Hereby, we report a case where our patient presented with port-wine stain, Nevus of Ota, Sturge-Weber syndrome, and Klippel-Trenaunay syndrome; which has made it a rare combination. PMID:25657402

Sen, Sumit; Bala, Sanchaita; Halder, Chinmay; Ahar, Rahul; Gangopadhyay, Anusree

2015-01-01

216

Cerebral cavernous malformations (cavernomas) in the pediatric age-group  

Microsoft Academic Search

Cavernomas are vascular malformations composed of a compact mass of sinusoidal-type vessels that are immediately contiguous with one another and have no intervening parenchyma. Cavernous malformations were previously held to be a rare pathology occurring predominantly in adults. New neuroradiological techniques such as computed tomography (CT) and magnetic resonance imaging (MRI) demonstrate, on the contrary, that these lesions are also

C. Mazza; R. Scienza; A. Beltramello; R. Da Pian

1991-01-01

217

Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases  

PubMed Central

Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings. PMID:23373038

Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K

2012-01-01

218

Field Guide to Malformations of Frogs and Toads  

E-print Network

Field Guide to Malformations of Frogs and Toads With Radiographic Interpretations U.S. Department recently metamorphosed frogs that were collected in Minnesota, Vermont, Wisconsin and Maine and examined on the northern leopard frog (Rana pipiens). The malformations and the method of their classification are reported

Torgersen, Christian

219

COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS  

Microsoft Academic Search

Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings, complications, and post- operative performance of patients with inner ear anomalies who underwent cochlear implantation. Six patients with inner ear malformations underwent implantation in our academic tertiary referral center from 1997 to 2002. The average

M. H. Khalessi; M. Motesaddi Zarandi; P. Borghei; S. Abdi

220

Research Report Genetic interactions among cortical malformation genes that  

E-print Network

Research Report Genetic interactions among cortical malformation genes that influence consequences of decreasing the activity of nematode gene homologs within the LIS1 pathway that are associated with a human cortical malformation termed lissencephaly. Bioinformatic analysis revealed the nud-2 gene

Caldwell, Guy

221

Lumbar extradural arteriovenous malformation: case report and literature review  

Microsoft Academic Search

Background contextMost spinal arteriovenous malformations (AVMs) are dural arteriovenous fistulas in which a singularly intradural venous drainage emanates from an extradural nidus. A pure extradural spinal arteriovenous malformation (E-AVM), in the absence of a vertebral body (cavernous) hemangioma, is extremely rare, and full clinical, radiological, and operative descriptions are scant.

Laurence A. G. Marshman; Karoly M. David; Sanjiv J. Chawda

2007-01-01

222

Hemihyperplasia with Ehlers-Danlos syndrome like skin changes.  

PubMed

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

Dalal, Ashwin; Phadke, Shubha R

2005-10-01

223

Stenogyria - not only in Chiari II malformation.  

PubMed

Stenogyria, meaning multiple small compacted gyri separated by shallow sulci, is reported in the literature in association with Chiari II malformation (CM II) which in turn is reported in association with myelomeningocele (MMC). The authors present five cases of stenogyria (and other abnormalities found in CM II, like callosal hypoplasia/dysplasia, agenesis of the anterior commissure, hypoplasia of the falx cerebri) in children without the history of MMC or any other form of open spinal dysraphism. In these cases stenogyria was associated with Chiari I malformation, rhombencephalosynapsis and spina bifida. Stenogyria, which is not a true neuronal migration disorder, should not be mistaken for polymicrogyria which is also present in CM II. It is histologically different from polymicrogyria because the cortex is normally organized. Also on MRI, the general sulcal pattern is preserved in stenogyria, while it is completely distorted in polymicrogyria. The authors conclude that features traditionally attributed to CM II, like stenogyria, occur not only in the population of patients with MMC as opposed to the widely accepted theory. PMID:25282544

Bekiesinska-Figatowska, Monika; Duczkowska, Agnieszka; Br?goszewska, Hanna; Duczkowski, Marek; Mierzewska, Hanna

2014-12-15

224

Intralesional laser therapy for vascular malformations.  

PubMed

Intralesional laser therapy for the treatment of vascular malformations (VMs) has been previously reported for select patient populations. Larger studies, over a wider variety of indications, are needed to better define the potential role of this technology. In the current study, a 12-year, retrospective review of 44 patients who underwent 73 intralesional Nd:YAG or diode laser treatments of VMs was performed. The most commonly encountered lesions were venous malformations (66%) and the most commonly involved anatomic locations were the head and neck regions (41%) and lower extremity (39%). Primary indications for treatment were enlargement (73%) and pain (52%). Lesion size was reduced in 94% of cases after treatment and pain was improved in 91% of cases. Minor postoperative complications occurred in 16 (36%) patients. There was no difference in treatment response among various VM subtypes or anatomic locations (P=0.497, P=0.866) or in the incidence of complications (P=0.531, P=0.348). Age was the only factor associated with an increased risk of complications (odds ratio, 1.034; P=0.038). When used in accordance with the suggested guidelines, intralesional laser therapy is a safe and effective treatment modality for VMs of varying compositions and locations. PMID:24625513

Ma, Linda W; Levi, Benjamin; Oppenheimer, Adam J; Kasten, Steven J

2014-11-01

225

Clinical nosologic and genetic aspects of Joubert and related syndromes.  

PubMed

Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia, hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements. The biochemical and genetic basis of Joubert syndrome is unknown and a specific chromosomal locus for this disorder has not been identified. Review of this disorder and related syndromes suggests that (1) hypoplasia of the cerebellar vermis in Joubert syndrome is frequently associated with a complex brain stem malformation represented as the "molar tooth sign" on magnetic resonance imaging, (2) the "molar tooth sign" could be present in association with the Dandy-Walker malformation and occipital encephalocele, (3) cerebellar hypoplasia is present in conditions related to Joubert syndrome such as Arima syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1 mutations, and (4) the brainstem-vermis malformation spectrum is probably caused by at least two and probably several genetic loci. We have ascertained previously a cohort of 50 patients with a putative diagnosis of Joubert syndrome in order to evaluate the presence of associated malformations, and to initiate studies leading to the identification of genes causing Joubert and related syndromes. Among the associated malformations found in patients ascertained as having Joubert syndrome, 8% of patients had polydactyly, 4% had ocular colobomas, 2% had renal cysts, and 2% had soft-tissue tumors of the tongue. The WNT1 gene has been tested as a candidate gene for Joubert syndrome based on its expression in the developing cerebellum and an associated mutation in the swaying mouse. A search for mutations in WNT1 in a series of patients with Joubert syndrome did not detect mutations at this locus. This analysis suggested that mutations in WNT1 might not have a significant role in Joubert syndrome, and other functional candidate genes related to development of the cerebellum need to be examined. A genome-wide linkage analysis carried out in 10 Joubert syndrome pedigrees did not identify a specific chromosomal locus for this disorder. This observation, along with those from clinical studies, provides further evidence that Joubert and related syndromes are genetically heterogeneous. PMID:10511339

Chance, P F; Cavalier, L; Satran, D; Pellegrino, J E; Koenig, M; Dobyns, W B

1999-10-01

226

Moebius syndrome with Taussig-Bing anomaly.  

PubMed

We report a 6 years old male child, presented with difficulty in swallowing, crying and smiling from early infancy and recurrent episodes of cyanosis on exertion for about 2 years. He had facial dysmorphism, clubbing and polydactyly and right sided lower motor neuron type of facial nerve palsy. On examination and relevant investigations findings were consistent with Moebius syndrome and Taussig-Bing anomaly. Moebius syndrome comprises of congenital facial nerve palsy with or without palsy of the other cranial nerves and the associated organ system malformations. Taussig-Bing anomaly is a rare congenital heart malformation consisting of a transposed aorta, a large pulmonary artery which arises primarily from the right ventricle and ventricular septal defect. Simultaneous occurrence of Moebius syndrome and Taussig-Bing anomaly has not yet been reported in the past. PMID:24584392

Islam, M I; Chowdhury, A S; Hasan, M T

2014-01-01

227

Dilated vein of Galen in Kabuki syndrome.  

PubMed

Kabuki syndrome (KS) comprises multiple congenital abnormalities and is characterized by a peculiar facial appearance, dermatoglyphic anomalies, mental retardation, skeletal abnormalities and postnatal growth retardation. We describe the case of a 23-month-old boy with the typical features of KS who had several malformations in the veins of the brain, which had not previously been described in patients with this syndrome. The MRI phlebogram of this patient showed that the vein of Galen was dilated and that it drained anomalously. The sinus rectus was abnormal and the longitudinal inferior venous sinus was absent. In view of this finding, together with the fact that structural brain abnormalities in KS are more frequent than in other congenital syndromes with multiple malformations, we propose that MRI be used in the diagnostic work-up of all patients with KS. PMID:21330077

Sánchez-Carpintero, Rocío; Herranz, Ana; Reynoso, César; Zubieta, José Luis

2012-01-01

228

Enteroscopic sclerotherapy in blue rubber bleb nevus syndrome  

PubMed Central

Blue rubber bleb nevus syndrome (BRBNS) is a rare syndrome characterized by multiple vascular malformations of varying size and appearance that present predominantly on the skin and within the gastrointestinal tract and, less often, in other internal organs. Gastrointestinal lesions of BRBNS can cause acute or chronic bleeding, and the treatment is challenging. In this case, we reported a successful treatment of vascular malformations in all segments of gastrointestinal tract, including the small intestine, by endoscopic sclerotherapy, in a 10-year-old boy with BRBNS. PMID:25878650

Ning, Shoubin; Zhang, Yafei; Zu, Zhanfei; Mao, Xuyan; Mao, Gaoping

2015-01-01

229

[Carpal tunnel syndrome in children. Apropos of 4 personal cases].  

PubMed

Four cases of Carpal Tunnel syndrome during childhood are reported. Two of them are post traumatic cases; for one child, the syndrome was caused by hypertrophic cal six months after trauma. The other child has been operated because of a median and ulnar nerve deficit syndrome, which appeared one month after fracture. In the third observation, the authors have seen an abnormal muscle just in front of annular anterior ligament of the carpus during surgery. This muscle was assimilated to hypertrophic Palmaris Brevis muscle. In the last observation, the adolescent had a Poland syndrome with Sprengel malformation. In this paper, the authors point out clinical particularities due to musculo-tendinous malformation which can lead to Carpal Tunnel syndrome. PMID:2091841

Brax, P; Destuynder, O; Rigaud, P; Ridoux, P E; Gille, P

1990-01-01

230

CHARGE Syndrome-a five case study of the syndrome characteristics and health care consumption during the first year in life.  

PubMed

CHARGE syndrome is characterized by impaired vision and hearing, as well as physical malformations. The aim of this study is to describe the characteristics of the malformations and the health care consumption during the first year, in a Swedish sample having CHARGE syndrome. Three of the five individuals fulfilled all the traditional criteria for a clinical diagnosis of CHARGE syndrome. All infants were hospitalized from 26 to 230 days, subjected to 10-34 different diagnostic procedures and prescribed 10-28 different medications during their first year. Coordinated and individually adapted care is urged, as these infants and their families are in of need multiple health care contacts. PMID:25308400

Anderzén-Carlsson, Agneta

2015-01-01

231

Kousseff syndrome: A fifth case?  

SciTech Connect

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.

Laux, R.A. [Foundation for Blood Research, Portland, ME (United States); Hamilton, W.; Pinette, M. [Maine Medical Center, Portland, ME (United States)] [and others

1994-09-01

232

Goldenhar syndrome - review with case series.  

PubMed

Goldenhar's syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar's syndrome, where almost all the classical signs of this rare condition were present. PMID:24959523

Ashokan, C Seethalakshmi; Sreenivasan, Arathi; Saraswathy, Gopal K

2014-04-01

233

Kabuki syndrome revisited.  

PubMed

Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32?000. Individuals with the syndrome have multiple malformations, but remain identifiable by the presence of the distinctive craniofacial anomalies associated with the condition. Discovered in 1981 by two independent groups of Japanese scientists, spearheaded by Yoshikazu Kuroki and Norio Niikawa, much ambiguity relating to the syndrome persisted for over 30 years after it was initially discovered, with no definitive conclusions about its etiology having ever been established. Recently, mutations within the MLL2 gene have been identified as potentially implicative. Mutations within the MLL2 gene in KS patients have been promising not only because of their relatively high presence in affected individuals, but also because of pre-existing information in the literature having validated mutant MLL2 genes in KS as a highly significant finding. Although found to be present in the majority of cases, the absence of MLL2 mutations in all patients with the syndrome is suggestive that the condition may still display a degree of genetic heterogeneity, and further still, present with more complex inter genomic interactions than initially proposed. PMID:22437206

Bokinni, Yemisi

2012-04-01

234

Mowat-Wilson syndrome  

PubMed Central

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes, with a central depression, saddle nose with prominent rounded nasal tip, prominent columella, open mouth, with M-shaped upper lip, frequent smiling, and a prominent but narrow and triangular pointed chin), moderate-to-severe intellectual deficiency, epilepsy and variable congenital malformations including Hirschsprung disease (HSCR), genitourinary anomalies (in particular hypospadias in males), congenital heart defects, agenesis of the corpus callosum and eye anomalies. The prevalence of MWS is currently unknown, but 171 patients have been reported so far. It seems probable that MWS is under-diagnosed, particularly in patients without HSCR. MWS is caused by heterozygous mutations or deletions in the Zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). To date, over 100 deletions/mutations have been reported in patients with a typical phenotype; they are frequently whole gene deletions or truncating mutations, suggesting that haploinsufficiency is the main pathological mechanism. Studies of genotype-phenotype analysis show that facial gestalt and delayed psychomotor development are constant clinical features, while the frequent and severe congenital malformations are variable. In a small number of patients, unusual mutations can lead to an atypical phenotype. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark warranting ZEB2 mutational analysis, even in the absence of HSCR. The majority of MWS cases reported so far were sporadic, therefore the recurrence risk is low. Nevertheless, rare cases of sibling recurrence have been observed. Congenital malformations and seizures require precocious clinical investigation with intervention of several specialists (including neonatologists and pediatricians). Psychomotor development is delayed in all patients, therefore rehabilitation (physical therapy, psychomotor and speech therapy) should be started as soon as possible. PMID:17958891

Garavelli, Livia; Mainardi, Paola Cerruti

2007-01-01

235

Diagnosis and management of pulmonary arteriovenous malformations  

PubMed Central

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

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

2002-01-01

236

Multimodal device for assessment of skin malformations  

NASA Astrophysics Data System (ADS)

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.

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

2013-11-01

237

Outcome of cochlear implantation in children with cochlear malformations.  

PubMed

The objective of the study was the evaluation of outcomes of cochlear implantation (CI) in children with cochlear malformations. A retrospective case-control study was conducted in a tertiary referral centre. The patients were children with inner ear malformation judged by high-resolution computed tomography and magnetic resonance imaging treated with uni- or bilateral CI and a follow-up period of at least 3 years. They were matched with a control group of children operated for other reasons. The patients were operated by one of two surgeons using similar techniques including a standard perimodiolar electrode in all cases. The intervention was therapeutic and rehabilitative. The main outcome measures were category of auditory performance (CAP) and speech intelligibility rating (SIR). Eighteen children were diagnosed with cochlear malformations (12 % of children receiving CI). No statistical differences regarding CAP and SIR scores were found between the two groups. Only one child was diagnosed with a common cavity and performed below average. Children with auditory neuropathy performed beyond average. Children with cochlear malformations performed equally to children without malformation in the long term. Standard perimodiolar electrodes can be used despite cochlear malformations. The most important factors determining the outcome is the age of the child at the time of implantation and duration of hearing loss before CI. Awareness towards an increased risk of complications in case of inner ear malformations is recommended. PMID:24407715

Bille, Jesper; Fink-Jensen, Vibeke; Ovesen, Therese

2015-03-01

238

Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations  

PubMed Central

Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23?259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1?567?736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14). For anal atresia the RR was 1.85 (95% CI 1.00–1.85) and for choanal atresia 3.14 (95% CI 1.26–6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955

Norstedt Wikner, Birgitta

2014-01-01

239

Sturge-Weber syndrome.  

PubMed

Sturge-Weber syndrome (SWS) is a rare sporadic neurocutaneous syndrome defined by the association of a facial capillary malformation in the ophthalmic distribution of the trigeminal nerve, with ipsilateral vascular glaucoma and vascular malformation of the eye, and a leptomeningeal angioma. SWS is suspected at birth in the presence of facial angioma in the trigeminal nerve area. MRI with gadolinium enhancement and pondered T1, T2, FLAIR and diffusion sequences is today the technique of choice to visualize the leptomeningeal angioma or to suspect it by indirect signs, even before the development of neurological signs, from the first months of life. The prognosis of SWS with leptomeningeal angioma is related to the severity of neurological signs that are absent at birth and develop later in life (epilepsy, hemiparesis, and mental delay). Seizures are usually the presenting neurological symptom. Status epilepticus might inaugurate the epilepsy and remains frequent in infancy. Repetitive seizures are thought to increase the atrophy of brain tissue in regard to the leptomeningeal angioma. Preventive presymptomatic treatment with antiepileptic drugs is often recommended, and parents are trained to use rescue benzodiazepines in case of seizures. After epilepsy onset, in patients intractable to antiepileptic drugs, surgery should be considered. PMID:23622182

Nabbout, R; Juhász, C

2013-01-01

240

Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity  

Microsoft Academic Search

Mutations in SPINK5, encoding the serine protease inhibitor LEKTI, cause Netherton syndrome, a severe autosomal recessive genodermatosis. Spink5?\\/? mice faithfully replicate key features of Netherton syndrome, including altered desquamation, impaired keratinization, hair malformation and a skin barrier defect. LEKTI deficiency causes abnormal desmosome cleavage in the upper granular layer through degradation of desmoglein 1 due to stratum corneum tryptic enzyme

Pascal Descargues; Céline Deraison; Chrystelle Bonnart; Maaike Kreft; Mari Kishibe; Akemi Ishida-Yamamoto; Peter Elias; Yann Barrandon; Giovanna Zambruno; Arnoud Sonnenberg; Alain Hovnanian

2004-01-01

241

Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation  

Microsoft Academic Search

SMITH-LEMLI-OPITZ SYNDROME, a syndrome of multiple malformations and mental re- tardation that for years was relegated to the atlases of genetic esoterica, was re- cently found to be a relatively common inborn error of metabolism. The underly- ing defect is absent or deficient activity of 7-dehydrocholesterol- ? 7 -reductase, the enzyme catalysing the final step of cholesterol synthesis. The discovery

Malgorzata J. M. Nowaczyk; Donald T. Whelan; Timothy W. Heshka; Robert E. Hill

242

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

ERIC Educational Resources Information Center

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

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

2007-01-01

243

A new paradigm for West syndrome based on molecular and cell biology  

Microsoft Academic Search

Symptomatic West syndrome has heterogeneous backgrounds. Recently, two novel genes, ARX and CDKL5, have been found to be responsible for cryptogenic West syndrome or infantile spasms. Both are located in the human chromosome Xp22 region and are mainly expressed and play roles in fetal brain. Moreover, several genes responsible for brain malformations including lissencephaly, which is frequently associated with West

Mitsuhiro Kato

2006-01-01

244

Imaging of Chiari type I malformation and syringohydromyelia.  

PubMed

Chiari malformations are anatomic anomalies that comprise a broad spectrum of neurologic conditions. The most common malformation, a Chiari type I malformation, can present with a variety of signs and symptoms, most frequently an occipital Valsalva-induced headache. Cranial and spinal magnetic resonance (MR) imaging is used to identify the degree of tonsillar descent and document the presence of syringohydromyelia. The advent of cine-MR flow imaging (cine as in "cinema") has provided new insight as to the dynamic process involved in the evolution of this pathophysiology. This article reviews the neuroimaging of this fascinating disorder. PMID:24287386

McVige, Jennifer W; Leonardo, Jody

2014-02-01

245

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome  

Microsoft Academic Search

Classical lissencephaly (smooth brain) or generalized agyria-pachygyria is a severe brain malformation which results from an arrest of neuronal migration at 9-13 weeks gestation. It has been observed in several malformation syndromes including Miller-Dieker syndrome (MDS) and isolated lissencephaly sequence (ILS). A gene containing ?-transducin like repeats, now known as LIS1, was previously mapped to the ILS\\/MDS chromosome region on

Cristiana Lo Nigro; Samuel S. Chong; Ann C. M. Smith; William B. Dobyns; Romeo Carrozzo; David H. Ledbetter

1997-01-01

246

Pulmonary vascular malformation complicating cryptococcal pneumonia in an immunocompetent patient  

PubMed Central

An immunocompetent 50-year-old male presented with slight cough and occasional lung congestion. The radiologic findings included diffuse, bilateral reticular and one nodular opacity at the upper lobe of right lung without clear margin. A wedge resection of the lesion showed disordered distribution of the medium-sized vessels and arterioles, several arterioles densely gathered including a few occlusive arterioles, or medium veins dilated with irregular and elongated cavity, indicating the existence of vascular malformation. Interestingly, near to the malformed vessels, a large area of necrosis with granulomatous inflammation was found. Of note, numerous intracytoplasmic organisms with a nucleus, a wall and a thick capsule, were free in the alveoli or located within the macrophages and polykaryocytes, suggesting cryptococci infection. This is to our best knowledge the first case showing concurrent vascular malformation and local pulmonary cryptococcosis, and vascular malformation was likely an important pathological predisposing factor for local pulmonary cryptococcosis infection. PMID:24696743

Liu, Fang; Chen, Hanzhang; Zhu, Hailong; Li, Shuai; Gu, Pan; Fang, Xia; Wu, Yunjin; Zhang, Suxia; Zhang, Lanjing; Yi, Xianghua

2014-01-01

247

The Chiari malformations: a review with emphasis on anatomical traits.  

PubMed

Hindbrain herniations come in many forms and have been further subdivided as their original descriptions. For cerebellar tonsillar ectopia, they can be divided into two categories, acquired and congenital. Acquired hindbrain herniations are due to increased intracranial pressure caused by certain conditions such as trauma or brain tumor. Although the mechanism for their formation is not clear, congenital hindbrain herniation makes up the majority of these congenital malformations. Furthermore, these malformations are often found to harbor additional anatomical derailments in addition to the hindbrain herniation whether it be the cerebellar tonsils (Chiari I malformation) or the cerebellar vermis (Chiari II malformation). This article reviews these forms of cerebellar ectopia and describes the details of their anomalous anatomy. Moreover, this article compares and contrasts the differing embryological theories found in this literature. PMID:25065525

Cesmebasi, Alper; Loukas, Marios; Hogan, Elizabeth; Kralovic, Sara; Tubbs, R Shane; Cohen-Gadol, Aaron A

2015-03-01

248

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

249

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)  

Microsoft Academic Search

ObjectiveTo identify genetic causes of COACH syndromeBackgroundCOACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay\\/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis. The vermis hypoplasia falls in a spectrum of mid-hindbrain malformation called the molar tooth sign (MTS), making COACH a Joubert syndrome related disorder (JSRD).MethodsIn a cohort of 251 families with JSRD, 26

D. Doherty; M. A. Parisi; L. S. Finn; M. Gunay-Aygun; M. Al-Mateen; D. Bates; C. Clericuzio; H. Demir; M. Dorschner; A. J. van Essen; W. A. Gahl; M. Gentile; N. T. Gorden; A. Hikida; D. Knutzen; H Özyurek; I. Phelps; P. Rosenthal; A. Verloes; H. Weigand; P. F. Chance; W. B. Dobyns; I. A. Glass

2009-01-01

250

Vein of Galen malformations: epidemiology, clinical presentations, management.  

PubMed

The vein of Galen aneurysmal malformation is a congenital vascular malformation that comprises 30% of the pediatric vascular and 1% of all pediatric congenital anomalies. Treatment is dependent on the timing of presentation and clinical manifestations. With the development of endovascular techniques, treatment paradigms have changed and clinical outcomes have significantly improved. In this article, the developmental embryology, clinical features and pathophysiology, diagnostic workup, and management strategies are reviewed. PMID:22107867

Recinos, Pablo F; Rahmathulla, Gazanfar; Pearl, Monica; Recinos, Violette Renard; Jallo, George I; Gailloud, Philippe; Ahn, Edward S

2012-01-01

251

Laparoscopic approach in the management of anorectal malformations.  

PubMed

Seventeen years have passed since the first description of the laparoscopic approach for anorectal malformation and approximately 68 articles have been published on the subject. In this review article, we aim to describe the advantages as well as the indications and contraindications of this approach when dealing with each specific type of anorectal malformation, according to what has been described in the literature and to our own experience. The ideal and undisputable indication for laparoscopy remains for cases in which the abdomen needs to be entered to repair the malformation. Only 10 % of male patients with anorectal malformation are born with a recto-bladder neck fistula that requires an abdominal approach, this represents an ideal indication for laparoscopy. In females, only the complex cloacae with a common channel length greater than 3 cm are the ones that require a laparotomy; they represent about 30 % of the cloacae. However, the repair of this type of cloacae also requires sophisticated and technically demanding maneuvers that have never been done laparoscopically. In cases of recto-urethral prostatic fistulas the malformation can be repaired either way: laparoscopically or posterior sagitally. In all other malformations: recto-perineal fistula, recto-urethral bulbar fistula, anorectal malformation without fistula, rectal atresia, recto-vestibular fistula; no justification for laparoscopy could be found; and in some cases, laparoscopy is contraindicated. In the published reports, there is no evidence supporting the idea that laparoscopic repair results in better functional results when compared with non-laparoscopic operation; there is a tendency to omit information relevant to bowel control such as the characteristics of the sacrum and the presence or absence of tethered cord; and most authors do not compare results between comparable malformations. PMID:25725614

Bischoff, Andrea; Martinez-Leo, Bruno; Peña, Alberto

2015-05-01

252

Marfan syndrome: An eyesight of syndrome?  

PubMed Central

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

Kumar, Ashok; Agarwal, Sarita

2014-01-01

253

Marfan syndrome: An eyesight of syndrome.  

PubMed

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

Kumar, Ashok; Agarwal, Sarita

2014-12-01

254

Pathophysiology of increased cerebrospinal fluid pressure associated to brain arteriovenous malformations: The hydraulic hypothesis  

PubMed Central

Background: Brain arteriovenous malformations (AVMs) produce circulatory and functional disturbances in adjacent as well as in remote areas of the brain, but their physiological effect on the cerebrospinal fluid (CSF) pressure is not well known. Methods: The hypothesis of an intrinsic disease mechanism leading to increased CSF pressure in all patients with brain AVM is outlined, based on a theory of hemodynamic control of intracranial pressure that asserts that CSF pressure is a fraction of the systemic arterial pressure as predicted by a two-resistor series circuit hydraulic model. The resistors are the arteriolar resistance (that is regulated by vasomotor tonus), and the venous resistance (which is mechanically passive as a Starling resistor). This theory is discussed and compared with the knowledge accumulated by now on intravasal pressures and CSF pressure measured in patients with brain AVM. Results: The theory provides a basis for understanding the occurrence of pseudotumor cerebri syndrome in patients with nonhemorrhagic brain AVMs, for the occurrence of local mass effect and brain edema bordering unruptured AVMs, and for the development of hydrocephalus in patients with unruptured AVMs. The theory also contributes to a better appreciation of the pathophysiology of dural arteriovenous fistulas, of vein of Galen aneurismal malformation, and of autoregulation-related disorders in AVM patients. Conclusions: The hydraulic hypothesis provides a comprehensive frame to understand brain AVM hemodynamics and its effect on the CSF dynamics. PMID:23607064

Rossitti, Sandro

2013-01-01

255

Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis.  

PubMed

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

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

2012-03-01

256

Giant Cystic Cerebral Cavernous Malformation with Multiple Calcification - Case Report  

PubMed Central

Cerebral cavernous malformation with giant cysts is rare and literature descriptions of its clinical features are few. In this case study, the authors describe the clinical symptoms, radiological findings, and pathological diagnosis of cerebral cavernous malformations with giant cysts, reviewing the relevant literature to clearly differentiate this from other disease entities. The authors present a case of a 19-year-old male with a giant cystic cavernous malformation, who was referred to the division of neurosurgery due to right sided motor weakness (grade II/II). Imaging revealed a large homogenous cystic mass, 7.2×4.6×6 cm in size, in the left fronto-parietal lobe and basal ganglia. The mass had an intra-cystic lesion, abutting the basal portion of the mass. The initial diagnosis considered this mass a glioma or infection. A left frontal craniotomy was performed, followed by a transcortical approach to resect the mass. Total removal was accomplished without post-operative complications. An open biopsy and a histopathological exam diagnosed the mass as a giant cystic cavernous malformation. Imaging appearances of giant cavernous malformations may vary. The clinical features, radiological features, and management of giant cavernous malformations are described based on pertinent literature review. PMID:24167810

Kim, Il-Chun; Rhee, Jong-Joo; Lee, Jong-Won; Hur, Jin-Woo; Lee, Hyun-Koo

2013-01-01

257

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.  

PubMed

In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments. PMID:25192502

Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

2014-07-01

258

Neuropsychological Features and Risk Factors in Children With Sturge-Weber Syndrome: Four Case Reports  

Microsoft Academic Search

Sturge-Weber Syndrome (SWS) is a rare neurocutaneous disorder involving facial capillary malformation (port-wine birthmark) and vascular malformation of the brain that is frequently associated with epilepsy, stroke-like episodes, cognitive deficits, motor impairment, and\\/or visual field cut. The four cases presented here (ages 8–9, two females) illustrate the broad range of physiologic involvement and associated neuropsychological functioning in SWS, and argue

T. Andrew Zabel; Jennifer Reesman; Ericka L. Wodka; Robert Gray; Stacy J. Suskauer; Elizabeth Turin; Lisa M. Ferenc; Doris D. M. Lin; Eric H. Kossoff; Anne M. Comi

2010-01-01

259

PHACES syndrome associated with carcinoid endobronchial tumor.  

PubMed

PHACES syndrome consists of the constellation of manifestations including posterior fossa anomalies of the brain (most commonly Dandy-Walker malformations), hemangiomas of the face and scalp, arterial abnormalities, cardiac defects, eye anomalies and sternal defects. We present a case with a possible PHACES syndrome including sternal cleft and supraumbilical raphé, precordial skin tag, persistent left superior vena cava and subtle narrowing of the aorta with an endobronchial carcinoid tumor. All these anomalies were discovered on chest multi-detector CT. This is a unique case of PHACES syndrome associated with carcinoid tumor. Review of the literature revealed 3 cases of PHACES syndrome with glial tumor. The authors tried to find the relationship between PHACES syndrome and carcinoid tumors or gliomas, which all derive from the neural crest cells. PMID:24337788

Mama, Nadia; H'mida, Dorra; Lahmar, Imen; Yacoubi, Mohamed Tahar; Tlili-Graiess, Kalthoum

2014-05-01

260

Surgical approaches to brainstem cavernous malformations.  

PubMed

Brainstem cavernous malformations (CMs) are low-flow vascular lesions in eloquent locations. Their presentation is often marked with symptomatic hemorrhages that appear to occur more frequently than hemorrhage from supratentorial cavernomas. Brainstem CMs can be removed using 1 of the 5 standard skull-base approaches: retrosigmoid, suboccipital (with or without telovelar approach), supracerebellar infratentorial, orbitozygomatic, and far lateral. Patients being referred to a tertiary institution often have lesions that are aggressive with respect to bleeding rates. Nonetheless, the indications for surgery, in the authors' opinion, are the same for all lesions: those that are symptomatic, those that cause mass effect, or those that abut a pial surface. Patients often have relapsing and remitting courses of symptoms, with each hemorrhage causing a progressive and stepwise decline. Many patients experience new postoperative deficits, most of which are transient and resolve fully. Despite the risks associated with operating in this highly eloquent tissue, most patients have had favorable outcomes in the authors' experience. Surgical treatment of brainstem CMs protects patients from the potentially devastating effects of rehemorrhage, and the authors believe that the benefits of intervention outweigh the risks in patients with the appropriate indications. PMID:20809766

Abla, Adib A; Turner, Jay D; Mitha, Alim P; Lekovic, Gregory; Spetzler, Robert F

2010-09-01

261

Sudden death in Williams syndrome: Report of ten cases  

Microsoft Academic Search

Williams syndrome (WS) is a recognizable pattern of malformation with mental retardation, mild growth deficiency, characteristic facies and temperament, and cardiovascular disease. Sudden death is a recognized complication of WS; however, it is thought to be rare. The clinical features of 10 children with WS who died suddenly are reported here, doubling the number of unexpected deaths reported in the

Lynne M. Bird; Glenn F. Billman; Ronald V. Lacro; Robert L. Spicer; Lena K. Jariwala; H. Eugene Hoyme; Rolando Zamora-Salinas; Colleen Morris; David Viskochil; Maureen J. Frikke; Marilyn C. Jones

1996-01-01

262

Fetal Alcohol Syndrome: Embryogenesis in a Mouse Model  

Microsoft Academic Search

When two small doses of ethanol were administered to pregnant mice during the gastrulation stage of embryogenesis, the embryos developed craniofacial malformations closely resembling those seen in the human fetal alcohol syndrome. Striking histological changes appeared in the developing brain (neuroectoderm) within 24 hours of exposure. Decreased development of the neural plate and its derivatives apparently accounts for the craniofacial

Kathleen K. Sulik; Malcolm C. Johnston; Mary A. Webb

1981-01-01

263

Novel Molecular Targets for the Prevention of Fetal Alcohol Syndrome  

Microsoft Academic Search

Alcohol abuse produces damaging effects on the CNS that leads to several types of disorders. When consumed during pregnancy, alcohol may cause craniofacial malformations, growth retardation and brain damage in offspring. These symptoms are grouped by the term fetal alcohol syndrome (FAS). FAS is the most common cause of non-genetic mental retardation in the western world. Substantial efforts to elucidate

Susana E. Martinez; Gustavo Egea

2007-01-01

264

Possible homozygous Waardenburg syndrome in a fetus with exencephaly  

SciTech Connect

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.

NONE

1995-11-06

265

Anterior spinal artery syndrome after aortic surgery in a child  

Microsoft Academic Search

Anterior spinal artery syndrome is rare in children. In adults, where it is observed most frequently after resection of thoracoabdominal aortic aneurysms, spinal magnetic resonance imaging is considered the first-line investigation to confirm the clinical diagnosis. A 3-year-old male who presented with this syndrome after palliative cardiac surgery for a complex cardiac malformation associated with aortic coarctation is presented. Clinical

Laurent J Servais; Sarah K Rivelli; Bernard A Dachy; Catherine D Christophe; Bernard Dan

2001-01-01

266

Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis  

Microsoft Academic Search

.  ?There are several diseases characterized by renal cysts and neurological abnormalities. Joubert syndrome is distinguished\\u000a by hypoplasia of the cerebellar vermis, hypotonia, retinal dystrophy characterized by abnormal eye movements, and impaired\\u000a psychomotor development, together with abnormal respiratory pattern. We describe a boy with Joubert syndrome associated with\\u000a multicystic renal dysplasia and hepatic fibrosis. We speculate that the association of malformations

Douglas M. Silverstein; Leon Zacharowicz; Morris Edelman; Sunhee C. Lee; Ira Greifer; Isabelle Rapin

1997-01-01

267

Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.  

PubMed

We here provide an update on the clinical, genetic, and molecular aspects of split-hand/foot malformation (SHFM). This rare condition, affecting 1 in 8,500-25,000 newborns, is extremely complex because of its variability in clinical presentation, irregularities in its inheritance pattern, and the heterogeneity of molecular genetic alterations that can be found in affected individuals. Both syndromal and nonsyndromal forms are reviewed and the major molecular genetic alterations thus far reported in association with SHFM are discussed. This updated overview should be helpful for clinicians in their efforts to make an appropriate clinical and genetic diagnosis, provide an accurate recurrence risk assessment, and formulate a management plan. PMID:24115638

Gurrieri, Fiorella; Everman, David B

2013-11-01

268

Proteus syndrome: A rare case report  

PubMed Central

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

Talari, Keerthi; Subbanna, Praveen Kumar Arinaganhalli; Amalnath, Deepak; Suri, Subrahmanyam Dharanitragada Krishna

2012-01-01

269

Mermaid syndrome: virtually no hope for survival  

Microsoft Academic Search

Sirenomelia, also called the mermaid syndrome is a severe malformation involving multiple organs and characterized by partially or completely developed lower extremities fused by the skin. The birth of a “mermaid” is very rare (1.2–4.2 cases for 100,000 births); most are stillborn, or die at or shortly after birth. The case of a living female neonate with dipodic simelia (fusion

Nicolas Lutz; Blaise Julien Meyrat; Jean-Pierre Guignard; Judith Hohlfeld

2004-01-01

270

Supravalvular aortic stenosis in William's syndrome.  

PubMed

We report supravalvular aortic stenosis in a 12 year old patient who presented with mental retardation, malformed teeth, broad lower lips, pectus carinatum, clinodactyly, kyphoscoliosis with symptoms of shortness of breath. On examination presence of better volume pulse in right radial artery with ejection systolic murmur best heard in right 2(nd) intercostal space were noted. Patient was diagnosed as having William's syndrome with investigations demonstrating Supravalvular aortic stenosis with a gradient of 170 mm Hg. PMID:21976893

Mohan, Bishav; Mittal, Chander Mohan

2011-07-01

271

Syndromes with focal overgrowth in infancy: Diagnostic approach and surgical treatment.  

PubMed

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

Mirastschijski, Ursula; Altmann, Silke; Lenz-Scharf, Olivia; Muschke, Petra; Schneider, Wolfgang

2010-02-17

272

Syndromes with focal overgrowth in infancy: diagnostic approach and surgical treatment.  

PubMed

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

Mirastschijski, Ursula; Altmann, Silke; Lenz-Scharf, Olivia; Muschke, Petra; Schneider, Wolfgang

2012-02-01

273

A second locus for Rieger syndrome maps to chromosome 13q14  

SciTech Connect

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. 31 refs., 1 fig., 3 tabs.

Phillips, J.C.; Del Bono, E.A.; Pralea, A.M. [Tufts Univ., Boston, MA (United States)] [and others

1996-09-01

274

Smith-Lemli-Opitz Syndrome  

PubMed Central

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

DeBarber, Andrea E.; Eroglu, Yasemen; Merkens, Louise S.; Pappu, Anuradha S.; Steiner, Robert D.

2012-01-01

275

Fanconi syndrome  

MedlinePLUS

De Toni-Fanconi syndrome ... Fanconi syndrome can be caused by faulty genes, or it may result later in life due to kidney damage. Sometimes the cause of Fanconi syndrome is unknown. Common causes of Fanconi syndrome in ...

276

Aicardi Syndrome  

MedlinePLUS

NINDS Aicardi Syndrome Information Page Table of Contents (click to jump to sections) What is Aicardi Syndrome? Is there any treatment? ... being done? Clinical Trials Organizations What is Aicardi Syndrome? Aicardi syndrome is a rare genetic disorder that ...

277

Isaac's Syndrome  

MedlinePLUS

NINDS Isaacs' Syndrome Information Page Synonym(s): Neuromyotonia Table of Contents (click to jump to sections) What is Isaacs' Syndrome? ... is being done? Clinical Trials Organizations What is Isaacs' Syndrome? Issacs' syndrome (also known as neuromyotonia, Isaacs- ...

278

Tourette Syndrome  

MedlinePLUS

What Is Tourette Syndrome? Tourette syndrome is a condition that affects a person's central nervous system and causes tics. Tics are ... few months or a year. Continue Who Gets Tourette Syndrome? Tourette syndrome can affect people of all ...

279

Epidemiology and natural history of arteriovenous malformations.  

PubMed

The epidemiology and natural history of cerebral arteriovenous malformations (AVMs) remains incompletely elucidated. Several factors are responsible. With regard to the incidence and prevalence of AVMs, the results of prior studies have suffered because of the retrospective design, the use of nonspecific ICD-9 codes, and a focus on small genetically isolated populations. Recent data from the New York Islands AVM Hemorrhage Study, an ongoing, prospective, population-based survey determining the incidence of AVM-related hemorrhage and the associated rates of morbidity and mortality in a zip code-defined population of 10 million people, suggests that the AVM detection rate is 1.21/100,000 person-years (95% confidence interval [CI] 1.02-1.42) and the incidence of AVM-hemorrhage is 0.42/100,000 person-years (95% CI 0.32-0.55). Contemporaneous data from the Northern Manhattan Stroke Study, a prospective, longitudinal population-based study of nearly 150,000 patients in which the focus is to define the incidence of stroke, suggest the crude incidence for first-ever AVM-related hemorrhage to be 0.55/100,000 person-years (95% CI 0.11-1.61). Efforts are ongoing to study the natural history of both ruptured and unruptured AVMs in these datasets to examine the relevance of prior studies of patients selected for conservative follow up in Finland. In addition, data are being gathered to determine whether risk factors for future hemorrhage, which have previously been established in small case series, are valid when applied to whole populations. Together, these data should help inform therapeutic decisionmaking. PMID:16466233

Stapf, C; Mohr, J P; Pile-Spellman, J; Solomon, R A; Sacco, R L; Connolly, E S

2001-01-01

280

[A case of Sagliker syndrome and literature review].  

PubMed

We analyzed the characters of Sagliker syndrome by reporting a case of Sagliker syndrome and reviewed literature. We found that Sagliker syndrome had low incidence rate, young onset age, and was more common in women. There were high levels of alkaline phosphatase and parathyroid hormone in the blood of the patients. Patients with Sagliker syndrome with primary onset of non-diabetic nephropathy usually had chronic glomerulonephritis. We thought that secondary hyperparathyroidism in patients with Sagliker syndrome was induced by parathyroid hyperplasia, but high levels of alkaline phosphatase and parathyroid hormone in the blood of the patients with the secondary hyperparathyroidism were the main cause of Sagliker syndrome. Parathyroidectomy could stop the progress of Sagliker syndrome, but it could not reverse the occurrence of skeletal malformation. PMID:25355264

Wu, Wei; Qian, Liyuan; Chen, Xuedong; Ding, Boni

2014-10-01

281

Familial ectrodactyly syndrome in a nigerian child: a case report.  

PubMed

Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial defects, and genitourinary abnormalities. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) is an example of ectrodactyly syndrome accompanied by multiple organ defects. Ectrodactyly has been reported in Africa, especially in several families in remote areas of central Africa but there has not been any published work on ectrodactyly in Nigeria. A baby was born in Ilorin, North Central Zone of Nigeria, with an uneventful prenatal and delivery history but was noticed to have malformation of the two hands and the two lower limbs at birth which are replica of the father's malformation. We present this case to highlight familial ectrodactyly in Nigeria and prepare us to improve upon simple prenatal diagnosis and management of the challenges associated with patients with congenital malformation in Nigeria and other developing countries. PMID:22043435

Durowaye, Mathew; Adeboye, Muhammed; Yahaya-Kongoila, Sefiyah; Adaje, Adeline; Adesiyun, Omotayo; Ernest, Samuel Kolade; Mokuolu, Olugbenga Ayodeji; Adegboye, Abdulrasheed

2011-07-01

282

Updates and Future Horizons on the Understanding, Diagnosis, and Treatment of Sturge-Weber Syndrome Brain Involvement  

ERIC Educational Resources Information Center

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…

Lo, Warren; Marchuk, Douglas A.; Ball, Karen L.; Juhasz, Csaba; Jordan, Lori C.; Ewen, Joshua B.; Comi, Anne

2012-01-01

283

Vein of Galen arteriovenous malformation mimicking coarctation of the aorta.  

PubMed

Arteriovenous malformation of the vein of Galen is a rare congenital intracranial anomaly lacking a capillary bed and subsequent aneurysmal enlargement of the arterial and venous system, warranting careful management due to associated morbidity and mortality. Coarctations of aorta demonstrate similar neonatal echocardiographic signs to the vein of Galen arterial malformation (VGAM). We present a boy at 37 weeks of gestation whose initial ultrasound and echocardiographic investigations showed a dominant right ventricle and isthmal hypoplasia, suggestive of coarctation of aorta. Follow-up ultrasound and echocardiography revealed an arteriovenous malformation involving middle and posterior cerebral artery branches, eliminating coarctation of aorta. VGAM was confirmed by further ultrasound and angiographic investigation, which demonstrated a tangle of cerebral and choroidal arterial branches centrally feeding into an enlarged vein of Galen. The boy's hemodynamic and neurological statuses were confirmed to be stable despite increased venous pressure. Elective embolization at 7 months of age was complicated by a cerebrovascular accident, resulting in right hemiparesis despite no residual cardiac issues. This case demonstrates that rarely, arteriovenous malformations such as the vein of Galen malformations may be the primary cause of patients presenting with coarctation of aorta. The rarity of this condition and its guarded prognosis make our case of special interest to cardiologists and the perinatal care team. PMID:25368688

Firdouse, Mohammed; Agarwal, Arnav; Mondal, Tapas

2014-12-01

284

Defining anural malformations in the context of a developmental problem  

USGS Publications Warehouse

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.

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

285

Gross congenital malformation at birth in a government hospital.  

PubMed

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

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

2014-01-01

286

Anorectal Malformations Associated with Esophageal Atresia in Neonates  

PubMed Central

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

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

2013-01-01

287

Bone lengthening in malformed upper limbs: a four year experience.  

PubMed

Bone lengthening by corticotomy, gradual distraction and stabilization with an external frame has proved to be effective in the repair of osseous defects in lower extremities. More recently this technique has been introduced also in the treatment of post-traumatic deformities and malformations of the upper limbs. From 1989 to 1992 we treated 38 patients (46 upper limbs) with bone lengthening of which 12 (16 upper limbs) affected by post-traumatic deformities and 26 (30 upper limbs) by malformations. We present herein our four year experience with malformed cases only. The results suggest that bone lengthening is a simple and reliable procedure to obtain good function, to correct angular deviations and, also, to give a better esthetic appearance. Satisfying results, low complication rates and simple execution recommend its use in the treatment of many congenital malformations of the upper limbs, usually in association with traditional techniques. However, we are now strongly selecting the indications in order to improve our future results. We stress in particular that the treatment of some malformations, as ulnar or radial club hands, could be radically modified by introduction of bone lengthening. PMID:7618398

Pajardi, G; Campiglio, G L; Candiani, P

1994-01-01

288

Le syndrome d'apert  

PubMed Central

Le syndrome d'Apert est une affection congénitale rare, caractérisée par une sténose cranio-faciale associée à une syndactylie des mains et des pieds. Sa prise en charge doit être précoce et multidisciplinaire. Sa gravité réside dans la coexistence de plusieurs malformations avec un risque d'hypertension intracrânienne chronique responsable d'une cécité et d'une débilité mentale. Les auteurs rapportent une nouvelle observation à travers laquelle ils illustrent les aspects cliniques et évolutifs ainsi que les difficultés thérapeutiques de cette affection. PMID:23565313

Benmiloud, Sarra; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

2013-01-01

289

Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases  

PubMed Central

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

Kroes, I.; Janssens, S.; Defoort, P.

2014-01-01

290

The trisomy 18 syndrome  

PubMed Central

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

2012-01-01

291

Tumors in Rubinstein-Taybi syndrome  

SciTech Connect

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.

Miller, R.W. [National Cancer Institute, Bethesda, MD (United States); Rubinstein, J.H. [Univ. of Cincinnati College of Medicine, OH (United States)

1995-03-13

292

Quantification of shape and cell polarity reveals a novel mechanism underlying malformations resulting from related FGF mutations during facial morphogenesis  

PubMed Central

Fibroblast growth factor (FGF) signaling mutations are a frequent contributor to craniofacial malformations including midfacial anomalies and craniosynostosis. FGF signaling has been shown to control cellular mechanisms that contribute to facial morphogenesis and growth such as proliferation, survival, migration and differentiation. We hypothesized that FGF signaling not only controls the magnitude of growth during facial morphogenesis but also regulates the direction of growth via cell polarity. To test this idea, we infected migrating neural crest cells of chicken embryos with  replication-competent avian sarcoma virus expressing either FgfR2C278F, a receptor mutation found in Crouzon syndrome or the ligand Fgf8. Treated embryos exhibited craniofacial malformations resembling facial dysmorphologies in craniosynostosis syndrome. Consistent with our hypothesis, ectopic activation of FGF signaling resulted in decreased cell proliferation, increased expression of the Sprouty class of FGF signaling inhibitors, and repressed phosphorylation of ERK/MAPK. Furthermore, quantification of cell polarity in facial mesenchymal cells showed that while orientation of the Golgi body matches the direction of facial prominence outgrowth in normal cells, in FGF-treated embryos this direction is randomized, consistent with aberrant growth that we observed. Together, these data demonstrate that FGF signaling regulates cell proliferation and cell polarity and that these cell processes contribute to facial morphogenesis. PMID:23906837

Li, Xin; Young, Nathan M.; Tropp, Stephen; Hu, Diane; Xu, Yanhua; Hallgrímsson, Benedikt; Marcucio, Ralph S.

2013-01-01

293

Arnold–Chiari malformation type 1 complicated by sudden onset anterior spinal artery thrombosis, tetraparesis and respiratory arrest  

PubMed Central

Chiari in 1891 described a constellation of anomalies at the base of the brain inherited congenitally, the characteristic of which are (1) extension of a tongue of cerebellar tissue posterior to the medulla and cord that extends into the cervical spinal canal; (2) caudal displacement of the medulla and the inferior part of the fourth ventricle into the cervical canal; and (3) a frequent but not invariable association with syringomyelia or a spinal developmental abnormality. Chiari recognized four types of abnormalities. Presently, the term has come to be restricted to Chiari’s types I and II, that is, to cerebellomedullary descent without and with a meningomyelocele, respectively. The association of Arnold–Chairi malformation and high cervical cord infarction is unusual. The most common syndrome, anterior spinal artery syndrome (ASAS), is caused by interruption of blood flow to the anterior spinal artery, producing ischaemia in the anterior two-thirds of the cord, with resulting neurologic deficits. Causes of ASAS include aortic disease, postsurgical, sepsis, hypotension and thromboembolic disorders. The authors present an interesting case of cervical cord infarction due to anterior spinal artery thrombosis in a patient of type 1 Arnold–Chiari malformation without any of the above predisposing factors. PMID:22701030

Wani, Abdul Majid; Zayyani, Najah R; Al Miamini, Wail; Khoujah, Amer M; Alharbi, Zeyad; Diari, Mohd S

2011-01-01

294

Basic research Malformations of cortical development and epilepsy  

E-print Network

Malformations of cortical development (MCDs) are brain malformations that result from abnormalities affecting the normal processes of cortical development and involving cells that under normal circumstances would participate in formation of the cerebral cortex. Epileptic seizures result from paroxysmal, uncontrolled discharges of electricity from the brain that arise predominantly from the cerebral cortex. It is not surprising therefore that MCDs are often associated with recurrent seizures, and that these seizures may be difficult to control. The seizures in MCDs arise as a consequence of either malpositioning of normal cortical neurons or Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning

Richard J. Leventer; Phd Renzo Guerrini; William B. Dobyns

295

Dural arteriovenous malformation in the anterior cranial fossa.  

PubMed

Two cases of dural arteriovenous malformation (AVM) at the base of the anterior cranial fossa are described. In both cases an intracerebral hematoma following the rupture of the AVM was the first indication of the disease. In one case, the malformation was supplied both by the anterior ethmoidal artery and frontopolar artery draining into the superior sagittal sinus. In the second case, the right anterior ethmoidal artery with draining veins into the superior sagittal sinus and sphenoparietal sinus was the feeding vessel. Surgical evacuation of the hematoma and excision of the malformation was performed on both patients. The typical clinical signs and radiological findings are described. A review of the pertinent literature is given. PMID:10350203

Gliemroth, J; Nowak, G; Arnold, H

1999-03-01

296

Shwachman-Diamond syndrome.  

PubMed

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder with exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. Patients frequently present failure to thrive, susceptibility to infections and short stature. A persistent or intermittent neutropenia occurs in 88-100% of patients. Bone marrow biopsy usually reveals a hypoplastic specimen with varying degrees of hypoplasia and fat infiltration. Some patients may develop myeloblastic syndrome and acute myeloblastic leukemia. The genetic defect in SDS has been identified in 2002. The osteoporosis is increased in patients with SDS, and also, bone malformations are included among the primary characteristics of the syndrome. The severity and location change with age and sexes. The typical characteristics include the following: secondary ossification centers delayed appearance, metaphysis enlargement and irregularity (very common in childhood, particularly in coastal and femur), growth cartilage progressive thinning and irregularity (possibly asymmetric growth), generalized osteopenia with cortical thinning. We describe a clinical case regarding an SDS patient with severe bone abnormalities and treated surgically for corrective osteotomy. The persistent or intermittent neutropenia that characterized this disease and the consequent risk of infection is a contraindication for short stature correction and limbs lengthening. PMID:22201042

Dall'oca, C; Bondi, M; Merlini, M; Cipolli, M; Lavini, F; Bartolozzi, P

2012-08-01

297

The fetal alcohol syndrome.  

PubMed

A specific pattern of malformation involving prenatal-onset growth deficiency, developmental delay, craniofacial anomalies, and limb defects is now recognized in offspring of chronic alcoholic women. Historical evidence suggests that this is not a new observation. A recent French study of 127 offspring of alcoholic mothers indicates that this specific syndrome has been recognized in other parts of the world. Many of the features of this disorder could be related to the kind of malorientation of brain structure seen at the autopsy of one patient described herein. The frequency (43%) of adverse outcome of pregnancy for chronic alcoholic women suggests that serious consideration be given to early termination of pregnancy in severely chronic alcoholic women. PMID:1162620

Jones, K L; Smith, D W

1975-08-01

298

Unmasking Kabuki syndrome.  

PubMed

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

Bögershausen, N; Wollnik, B

2013-03-01

299

Hypoglycemia in Kabuki syndrome.  

PubMed

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

Subbarayan, Anbezhil; Hussain, Khalid

2014-02-01

300

Posterior fossa neoplasm and PHACES syndrome: a case report.  

PubMed

A 4-year-old girl with PHACES syndrome (posterior fossa brain malformations, hemangiomas, arterial anomalies, cardiac anomalies/coarctation of the aorta, eye abnormalities, and sternal clefting/supraumbilical raphe) developed a cerebellar pilocytic astrocytoma 18 months after resolution of her neck, ear, and thoracic hemangiomas. Because cutaneous hemangiomas may have involuted by the time a patient is diagnosed with a central nervous system neoplasm, it seems possible that in other such patients the association may have gone unrecognized. Cerebellar pilocytic astrocytoma may be a rare manifestation of the posterior fossa malformations of PHACES. PMID:19262249

Wallen, Katharine E; Hadar, Eldad J; Perry, Victor; Bouldin, Thomas W; Loehr, James; Blatt, Julie

2009-03-01

301

Congenital Bilateral Perislyvian Syndrome: Case Report and Review of Literature  

PubMed Central

Congenital bilateral Perislyvian syndrome (CBPS) is a rare structural malformation of the brain in which the underlying anomaly is polymicrogyria. Polymicrogyria is a malformation of cortical development that is characterized by abnormal arrangement and excessive folding of cerebral cortical cell layers, often with fusion of the gyral surfaces, which can be focal or regional or involve the whole cortical mantle. Clinical manifestations depend upon the anatomical region of the brain involved. We report a case of 7-year-old male child with magnetic resonance imaging findings of CBPS. PMID:24404535

Gowda, Anand K.; Mane, Ranoji Shivaji; Kumar, Ashok

2013-01-01

302

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 ...

303

Prenatal diagnosis of congenital renal and urinary tract malformations  

PubMed Central

Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance throughout pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

Hindryckx, A.; De Catte, L.

2011-01-01

304

Regression of a Large Congenital Hepatic Arteriovenous Malformation  

PubMed Central

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

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

2015-01-01

305

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

PubMed Central

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

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

2013-01-01

306

Genetics of syndromic and nonsyndromic cleft lip and palate.  

PubMed

Cleft of the lip with or without cleft palate (CL/P) represents one of the commonest congenital malformations in Western countries. Based on their association with specific malformative patterns or their presence as isolated defects, CL/P can be classified as syndromic and nonsyndromic, respectively. Both forms of CL/P are characterized by a strong genetic component. Syndromic forms are in many cases due to chromosomal aberrations or monogenic diseases. Among these, the Van der Woude syndrome, caused by mutation of the IRF6 gene, represents the commonest form of syndromic CL/P, accounting for about 2% of all cases. On the other hand, nonsyndromic CL/P is a multifactorial disease derived by the interaction between genetic and environmental factors. In recent years, great efforts have been made to identify the genes involved in the susceptibility to nonsyndromic CL/P and to disclose their relationship with specific environmental risk factors, to get information about the pathogenic mechanism leading to the malformation. In this article, we will review the most recent findings about the genes involved in the pathogenesis of syndromic and nonsyndromic CL/P, to provide information about the opportunity in the future to use specific genetic testing for the identification of at-risk mothers and the prevention of the disease based on a personalized approach. PMID:21959420

Stuppia, Liborio; Capogreco, Mario; Marzo, Giuseppe; La Rovere, Daniela; Antonucci, Ivana; Gatta, Valentina; Palka, Giandomenico; Mortellaro, Carmen; Tetè, Stefano

2011-09-01

307

The syndrome of pit of the lower lip and its association with cleft palate  

PubMed Central

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

Kaul, Bhavna; Mahajan, Nanika; Gupta, Rakesh; Kotwal, Bhanu

2014-01-01

308

The Smith-Lemli-Opitz syndrome  

PubMed Central

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and the subsequent redefinition of SLOS as an inborn error of cholesterol metabolism have led to important new treatment possibilities for affected patients. Moreover, the recent recognition of the important role of cholesterol in vertebrate embryogenesis, especially with regard to the hedgehog embryonic signalling pathway and its effects on the expression of homeobox genes, has provided an explanation for the abnormal morphogenesis in the syndrome. The well known role of cholesterol in the formation of steroid hormones has also provided a possible explanation for the abnormal behavioural characteristics of SLOS.???Keywords: Smith-Lemli-Opitz syndrome; cholesterol metabolism; 7-dehydrocholesterol reductase; clinical history; management PMID:10807690

Kelley, R.; Hennekam, R.

2000-01-01

309

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular development.  

PubMed

Mutations in filamin B (FLNB), a gene encoding a cytoplasmic actin-binding protein, have been found in human skeletal disorders, including boomerang dysplasia, spondylocarpotarsal syndrome, Larsen syndrome, and atelosteogenesis phenotypes I and III. To examine the role of FLNB in vivo, we generated mice with a targeted disruption of Flnb. Fewer than 3% of homozygous embryos reached term, indicating that Flnb is important in embryonic development. Heterozygous mutant mice were indistinguishable from their wild-type siblings. Flnb was ubiquitously expressed; strong expression was found in endothelial cells and chondrocytes. Flnb-deficient fibroblasts exhibited more disorganized formation of actin filaments and reduced ability to migrate compared with wild-type controls. Flnb-deficient embryos exhibited impaired development of the microvasculature and skeletal system. The few Flnb-deficient mice that were born were very small and had severe skeletal malformations, including scoliotic and kyphotic spines, lack of intervertebral discs, fusion of vertebral bodies, and reduced hyaline matrix in extremities, thorax, and vertebrae. These mice died or had to be euthanized before 4 weeks of age. Thus, the phenotypes of Flnb-deficient mice closely resemble those of human skeletal disorders with mutations in FLNB. PMID:17360453

Zhou, Xianghua; Tian, Fei; Sandzén, Johan; Cao, Renhai; Flaberg, Emilie; Szekely, Laszlo; Cao, Yihai; Ohlsson, Claes; Bergo, Martin O; Borén, Jan; Akyürek, Levent M

2007-03-01

310

Human malformations of the midbrain and hindbrain: review and proposed classification scheme  

Microsoft Academic Search

Although a great deal of interest in the genetics and etiology of cerebral, particularly forebrain, malformations has been generated in the past decade, relatively little is known about the basis of congenital malformations of the structures of the posterior fossa, namely the midbrain, cerebellum, pons, and medulla. In this review, we present a classification scheme for malformations of the midbrain

Melissa A. Parisi; William B. Dobyns

2003-01-01

311

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...

312

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

ERIC Educational Resources Information Center

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,…

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

313

A molecular and genetic view of human renal and urinary tract malformations  

Microsoft Academic Search

A molecular and genetic view of human renal and urinary tract malformations.Malformations of the kidney and lower urinary tract are common causes of chronic renal failure in infants and young children, but little is known about the molecular pathogenesis of these disorders. In animal experiments, the main causes of malformation are mutations, chemical and pharmaceutical teratogens, obstruction of fetal urinary

Adrian S Woolf

2000-01-01

314

Cleft hand in Kabuki make-up syndrome: case report.  

PubMed

Kabuki make-up syndrome (KMS) is a multiple malformation/mental retardation syndrome that was first described in Japan but is now reported in many other ethnic groups. Kabuki make-up syndrome is characterized by multiple congenital abnormalities: craniofacial, skeletal, and dermatoglyphic abnormalities; mental retardation; and short stature. Common hand anomalies associated with KMS include persistent fingertip pad, brachydactyly, clinodactyly, and lax joints. We report a patient with KMS who presented with cleft hand, a feature that has not yet been described in KMS, and describe the potential genetic cause. PMID:21411242

Huh, Jung Kyu; Chung, Moon Sang; Baek, Goo Hyun; Oh, Joo Han; Lee, Young Ho; Gong, Hyun Sik

2011-04-01

315

Gorlin-Goltz syndrome: A rare case report  

PubMed Central

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-01-01

316

Gorlin-Goltz syndrome: A rare case report.  

PubMed

Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder characterized by numerous basal cell carcinomas, odontogenic keratocysts (OKCs) and musculoskeletal malformations. A rare case of this syndrome observed in a 13-year-old male patient is presented in which multiple OKCs were causing disfigurement of the lower jaw as well as displacement and malocclusion of the teeth. Early diagnosis and treatment of this syndrome is important to reduce the severity of complications including cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction due to jaw cysts. PMID:24403808

Pol, Chetan A; Ghige, Suvarna K; Kalaskar, Ritesh R; Gosavi, Suchitra R

2013-10-01

317

Usher syndrome  

Microsoft Academic Search

Keywords Included diseases Excluded diseases History Definition Frequency of the various Usher syndromes Usher Syndrome Type 1 (USH1) Usher syndrome Type 2 (USH2) Usher syndrome Type 3 (USH3) Sensorineural Deafness with RP Diagnosis methods Management including treatment Genetic counseling Unresolved questions References Annex Abstract Usher syndrome is defined as a genetically heterogeneous condition comprising 12 independent loci with nine known

Birgit Lorenz; John Marshall

318

Treatment strategy in Goldenhar syndrome.  

PubMed

Goldenhar syndrome is a rare congenital defect characterized by ocular symptoms including (epibulbar dermoids, microphthalmia, anophthalmia, eyes asymmetry/dysmorphy, cleft eyelid, exophthalmia, strabismus), auricular symptoms (dacryocystitis), preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia, bifid tongue, hypoplasia of the mandible, hypoplasia of the maxilla, asymmetry of the mandible and maxilla, malocclusion, tooth discrepancies, agenesis of third molars and second premolars, supernumerary teeth, enamel and dentin malformations, delay in tooth development), and skeletal abnormalities (cleft spine, microcephaly, dolichocephaly, plagiocephaly, vertebral defects) or abnormalities of internal organs. The degree of abnormalities vary from severe to mild. In this article, we present a long-term observation of a patient with Goldenhar syndrome. During the patient's life, the intensification of anomalies varied. We describe preoperative and postoperative orthodontic treatment and surgical correction procedures of maxillofacial deformation. PMID:24406574

Bogusiak, Katarzyna; Arkuszewski, Piotr; Skorek-Stachnik, Katarzyna; Kozakiewicz, Marcin

2014-01-01

319

Proximity to Pollution Sources and Risk of Amphibian Limb Malformation  

PubMed Central

The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42–3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem. PMID:16263502

Taylor, Brynn; Skelly, David; Demarchis, Livia K.; Slade, Martin D.; Galusha, Deron; Rabinowitz, Peter M.

2005-01-01

320

Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation  

ERIC Educational Resources Information Center

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…

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

321

Epileptogenic temporal cavernous malformations: Operative strategies and postoperative seizure outcomes  

Microsoft Academic Search

Operative treatment of epileptogenic cavernous malformations (CM) continues under debate. Most studies focus on surgery for supratentorial CM in general. For temporal lobe CM, surgical decision-making concerns in particular whether to perform lesionectomy alone or the additional excision of mesial temporal structures. The purpose of this case series was to evaluate operative strategies used to treat epileptogenic temporal CM and

Kristen Upchurch; John M. Stern; Noriko Salamon; Sandra Dewar; Jerome Engel Jr.; Harry V. Vinters; Itzhak Fried

2010-01-01

322

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...

323

The North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

The Northern Prairie Wildlife Research Center (NPWRC) has posted several more resources online. This article introduces readers to The North American Reporting Center for Amphibian Malformations and discusses availability and uses of the Center's databases and resources. The resource may be browsed online or downloaded as a .zip file.

Fowle, Suzanne C.

324

Digital Subtraction Angiography for Arteriovenous Malformations in Stereotactic Radiosurgery  

Microsoft Academic Search

Images coming from digital subtraction angiography (DSA) are affected by a perspective distortion due to the use of image intensifiers. As a result, DSA cannot be used for the accurate definition of stereotactic coordinates. A correction method has been developed to enable the use of DSA for the radiosurgery of arteriovenous malformations. A software program and a special phantom tool

E. Piovan; M. Dal Sasso; G. P. Urbani; R. Sartori; R. Foroni; A. Benati

1996-01-01

325

Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review  

ERIC Educational Resources Information Center

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…

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-01-01

326

Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation  

SciTech Connect

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.

Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J. [Eastbourne District General Hospital, Department of Radiology (United Kingdom)], E-mail: Hugh.Anderson@esht.nhs.uk

2007-11-15

327

Antenatal management of pulmonary hyperplasia (congenital cystic adenomatoid malformation)  

Microsoft Academic Search

A 26-year-old lady was seen in antenatal clinic. Her anomaly scan at 20 weeks showed significant fetal abdominal ascites and an enlarged echo bright right lung with cardiac displacement. These findings were consistent with recognised type III congenital cystic adenomatoid malformation (CCAM). An induction of labour was undertaken at 32 weeks' gestation due to increasing maternal morbidity. Labour was complicated

D. Ankers; N. Sajjad; P. Green; J. L. McPartland

2010-01-01

328

Paraspinal arteriovenous malformation Onyx embolization via an Ascent balloon  

PubMed Central

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

Martínez-Galdámez, Mario; Rodriguez-Arias, Carlos A; Utiel, Elena; Arreba, Emilio; Gonzalo, Miguel; Arenillas, Juan F

2013-01-01

329

Vascular and nonvascular intracranial malformations associated with external capillary hemangiomas  

Microsoft Academic Search

Seven patients with facial and scalp capillary hemangiomas with associated vascular and nonvascular intracranial malformations are presented. All patients were female. The most important anomalies include: Dandy-Walker disease, cerebellar hypoplasia, arterial angiomas, and abnormal origin and intracranial distribution of some of the principal cerebral arteries.

I. Pascual-Castroviejo

1978-01-01

330

A case of Baraitser–Winter syndrome with unusual brain MRI findings: Pachygyria, subcortical-band heterotopia, and periventricular heterotopia  

Microsoft Academic Search

Baraitser–Winter syndrome (BaWS) is characterized by iris coloboma, ptosis, hypertelorism, and mental retardation; it is a rare multiple congenital anomaly or a mental-retardation syndrome of unknown etiology. Patients suffering from this syndrome have been also found to show brain anomalies such as pachygyria, subcortical-band heterotopia (SBH), and hippocampal malformations; therefore, these anomalies have been included in the phenotypic spectrum of

Takashi Shiihara; Ken-ichi Maruyama; Yoshiyuki Yamada; Akira Nishimura; Naomichi Matsumoto; Mitsuhiro Kato; Satoru Sakazume

2010-01-01

331

Altered intrinsic properties of neuronal subtypes in malformed epileptogenic cortex.  

PubMed

Neuronal intrinsic properties control action potential firing rates and serve to define particular neuronal subtypes. Changes in intrinsic properties have previously been shown to contribute to hyperexcitability in a number of epilepsy models. Here we examined whether a developmental insult producing the cortical malformation of microgyria altered the identity or firing properties of layer V pyramidal neurons and two interneuron subtypes. Trains of action potentials were elicited with a series of current injection steps during whole cell patch clamp recordings. Cells in malformed cortex identified as having an apical dendrite had firing patterns similar to control pyramidal neurons. The duration of the second action potential in the train was increased in paramicrogyral (PMG) pyramidal cells, suggesting that these cells may be in an immature state, as was previously found for layer II/III pyramidal neurons. Based on stereotypical firing patterns and other intrinsic properties, fast-spiking (FS) and low threshold-spiking (LTS) interneuron subpopulations were clearly identified in both control and malformed cortex. Most intrinsic properties measured in malformed cortex were unchanged, suggesting that subtype identity is maintained. However, LTS interneurons in lesioned cortex had increased maximum firing frequency, decreased initial afterhyperpolarization duration, and increased total adaptation ratio compared to control LTS cells. FS interneurons demonstrated decreased maximum firing frequencies in malformed cortex compared to control FS cells. These changes may increase the efficacy of LTS while decreasing the effectiveness of FS interneurons. These data indicate that differential alterations of individual neuronal subpopulations may endow them with specific characteristics that promote epileptogenesis. PMID:21167139

George, Amanda L; Jacobs, Kimberle M

2011-02-16

332

Williams syndrome  

MedlinePLUS

Williams-Beuren syndrome ... Williams syndrome is a rare condition caused by missing a copy of several genes. Parents may not have ... history of the condition. However, a person with Williams syndrome has a 50% chance of passing the disorder ...

333

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 ...

334

Metabolic Syndrome  

MedlinePLUS

... page from the NHLBI on Twitter. What Is Metabolic Syndrome? Metabolic (met-ah-BOL-ik) syndrome is the ... three metabolic risk factors to be diagnosed with metabolic syndrome. A large waistline. This also is called abdominal ...

335

Down Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications En Español 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 ...

336

Dumping Syndrome  

MedlinePLUS

... Disease Organizations?? (PDF, 341 KB)????? Alternate Language URL Dumping Syndrome Page Content DUE TO UNFORESEEN CIRCUMSTANCES, PUBLICATION ... through Research For More Information Acknowledgments What is dumping syndrome? Dumping syndrome occurs when food, especially sugar, ...

337

Brown Syndrome  

MedlinePLUS

... Does Brown syndrome cause eye problems besides abnormal eye movements? Some children with Brown syndrome have poor binocular ... In the congenital form of Brown syndrome, the eye movement problem is usually constant and unlikely to resolve ...

338

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome  

PubMed Central

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

2014-01-01

339

cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations  

PubMed Central

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

VanderMeer, Julia E.; Ahituv, Nadav

2011-01-01

340

Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study  

SciTech Connect

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.

Lv, Ming-ming, E-mail: lvmingming001@163.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China); Fan, Xin-dong, E-mail: fanxindong@yahoo.com.cn [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China); Su, Li-xin, E-mail: sulixin1975@126.com [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)] [Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)

2013-10-15

341

Niikawa-Kuroki syndrome.  

PubMed

In 1967 a baby was observed who presented post-natal progressive growth deficit, mental retardation, craniofacial dysmorphias and other malformations which didn't form part of the syndromes till then known. However the first description of patients with this combination of anomalies dates back to 1981, when Niikawa and Kuroki described the main clinical signs which characterize the syndromic table. The size and weight deficit is progressive and it reveals itself during the first year of life. The features of the face are like the make-up of kabuki actors, the word from which the denomination comes. The mental retardation is of a slight degree; there is also a retardation in the acquisition of evolutive psychomotor stages. Speech is not very structured, it begins with the first syllables at about three years and remains poor with close, unclear and tied words. Other elements which define the syndrome are: the skeleton anomalies, dermatoglyphic anomalies, cardiological and renal anomalies. The aetiology is still unknown; it is thought that it may be X-linked or autosomal predominant transmission by new mutation. The genetic analysis has shown chromosomic anomalies only in a few cases. The rareness of the syndrome and the unmistakable clinical characteristics which make diagnosis possible leads to a description of three new case. All cases present a post-natal deficit of growth, psychomotor and/or mental retardation, autistic traits, dysmorphic facies, skeleton anomalies, partial epilepsy; two cases present cardiovascular defects. In one case the GH-dependent deficit of size has been corrected by hormonal treatment. PMID:10634060

Roccella, M

1999-01-01

342

Review of accessory tragus with highlights of its associated syndromes.  

PubMed

Accessory tragus is a developmental defect involving malformation of part of the external ear. It is a moderately rare congenital condition reported in 1858 by Birkett for the first time. Histological features of accessory tragus include a thin layer of stratum corneum with a rugated epidermis, presence of eccrine glands, and irregular spatial positioning of vellus hair follicles accompanied by sebaceous glands. Accessory tragus is commonly a limited deformity; however, it can be a sign of associated congenital syndromes. It has been shown to be associated with Goldenhar syndrome, Townes-Brocks syndrome, Treacher-Collins syndrome, VACTERL syndrome, and Wolf-Hirschhron syndrome. Surgical excision, the most common form of management of accessory tragus lesions, typically leads to a positive outcome. An extensive search was performed using pubmed.gov, Embase, MedLine, and Googlescholar.com using key words: accessory tragus, congenital malformations of ear, first branchial arch, and embryology. In this paper, we review the clinical and histological presentation, associated syndromes, management, and outcome of accessory tragus. PMID:25266223

Bahrani, Bahar; Khachemoune, Amor

2014-12-01

343

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.  

PubMed

Oral-facial-digital syndrome type VI (OFD VI) is characterized by the association of malformations of the face, oral cavity and extremities, distinguished from the 12 other OFD syndromes by cerebellar and metacarpal abnormalities. Cerebellar malformations in OFD VI have been described as a molar tooth sign (MTS), thus, including OFD VI among the "Joubert syndrome related disorders" (JSRD). OFD VI diagnostic criteria have recently been suggested: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of hands or feet; 3) hypothalamic hamartoma. In order to further delineate this rare entity, we present the neurological and radiological data of 6 additional OFD VI patients. All patients presented oral malformations, facial dysmorphism and distal abnormalities including frequent polydactyly (66%), as well as neurological symptoms with moderate to severe mental retardation. Contrary to historically reported patients, mesoaxial polydactyly did not appear to be a predominant clinical feature in OFD VI. Sequencing analyzes of the 14 genes implicated in JSRD up to 2011 revealed only an OFD1 frameshift mutation in one female OFD VI patient, strengthening the link between these two oral-facial-digital syndromes and JSRD. PMID:23523602

Darmency-Stamboul, Véronique; Burglen, Lydie; Lopez, Estelle; Mejean, Nathalie; Dean, John; Franco, Brunella; Rodriguez, Diana; Lacombe, Didier; Desguerres, Isabelle; Cormier-Daire, Valérie; Doray, Bérénice; Pasquier, Laurent; Gonzales, Marie; Pastore, Matthew; Crenshaw, Melissa L; Huet, Frédéric; Gigot, Nadège; Aral, Bernard; Callier, Patrick; Faivre, Laurence; Attié-Bitach, Tania; Thauvin-Robinet, Christel

2013-06-01

344

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.  

PubMed

Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis resulting from a deficiency of 7-dehydrocholesterol (7DHC) reductase encoded by DHCR7. SLOS is inherited in an autosomal recessive pattern. It is characterized by prenatal and postnatal growth retardation, microcephaly, a variable degree of intellectual disability that encompasses normal intelligence to severe intellectual deficiency, and multiple major and minor malformations. External malformations include distinctive facial features, cleft palate, postaxial polydactyly, 2-3 syndactyly of the toes, and underdeveloped external genitalia in males, while internal anomalies may affect every organ system. The clinical spectrum is wide, and rare individuals have been described with normal development and only minor malformations. The clinical diagnosis of SLOS is confirmed by demonstrating an abnormally elevated concentration of the cholesterol precursor, 7DHC, in serum or other tissues, or by the presence of two DHCR7 mutations. The enzymatic deficiency results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these two factors. This review discusses the physical and behavioral phenotype of SLOS, the diagnostic approaches, the natural history from the prenatal period to adulthood, and current understanding of the pathophysiology of SLOS. PMID:23059950

Nowaczyk, Ma?gorzata J M; Irons, Mira B

2012-11-15

345

Radiographic manifestations of the temporomandibular joint in a case of Proteus syndrome  

PubMed Central

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

Yilmaz, E; Kansu, Ö; Özgen, B; Akçiçek, G; Kansu, H

2013-01-01

346

Physical and dental manifestations of oral-facial-digital syndrome type I.  

PubMed

Oral-facial-digital (OFD) syndrome is the collective name of a group of rare inherited syndromes characterized by malformations of the face, oral cavity, hands and feet. OFD syndrome type I, also known as the Papillon-League-Psaume syndrome warrants our attention because early diagnosis from an odontologic viewpoint will minimize the sequalae of developing physical and dental abnormalities. The present article highlights the clinical as well as the radiographic findings and the treatment that was done of a 10-year-old girl child diagnosed with OFD I. PMID:22169845

Tuli, A; Sachdev, V; Singh, A; Kumar, A

2011-12-01

347

Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion.  

PubMed

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy-Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. PMID:15849798

Vialard, F; Robyr, R; Hillion, Y; Molina Gomes, D; Selva, J; Ville, Y

2005-04-01

348

Metabolic Syndrome  

MedlinePLUS

... you know? One in five Americans has the metabolic syndrome. WhO is At risk fOr the metAbOlic syndrOme? The syndrome runs in families and is more ... High blood pressure Most people who have the metabolic syndrome feel healthy and may not have any signs ...

349

Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation  

PubMed Central

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

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

350

Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.  

PubMed

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

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

2012-08-01

351

Radiotherapy for intraarticular venous malformations of the knee.  

PubMed

Intraarticular venous malformation (IAVM) of the knee is a rare vascular disease that manifests with pain, swelling, and hemarthrosis. A young man with left knee pain and swelling was admitted to our institution for the treatment of the IAVM of the left knee which was diagnosed by a local orthopedic doctor via arthroscopy. A total dose of 40 Gy of radiotherapy was delivered with a daily dose of 2.0 Gy using 6 MV X-ray beams and a linear accelerator through anteroposterior portals. Fifteen months after radiotherapy, follow-up examination using radiologic imaging showed distinct shrinkage of the venous malformations. Swelling and pain of the left knee had decreased, and range of motion of the left knee was maintained. This report describes a case involving a 38-year-old man with IAVM of the left knee in whom favorable outcomes were obtained in response to radiotherapy. PMID:25017778

Fujita, Takeshi; Okimoto, Tomoaki; Ito, Katsuyoshi; Tanabe, Masahiro; Matsunaga, Naofumi

2014-11-01

352

Congenital umbilical arterio-venous malformation: a word of caution.  

PubMed

We report on an 18-month old girl who presented in good clinical shape with a pulsatile tumour in the umbilical area which had a shape and localization similar to that of an umbilical bowel hernia. The Doppler ultrasound of the umbilical tumour revealed a large arterio-venous vascular malformation with a haemodynamically significant blood shunting. Furthermore, the inferior caval vein and the hepatic veins were dilated. Computed tomography angiography revealed permeable umbilical veins and arteries communicating within a large dilated arterio-venous fistula. The growing tumour was excised without any perioperative complications. Further postoperative recovery was uneventful and the baby was discharged 10 days after surgery. We advocate careful antenatal ultrasound evaluation of these vascular malformations. Early surgical removal in newborns is vital in order to avoid severe complications. PMID:24550232

Gozar, Horea; Gozar, Liliana; Badiu, Catalin Constantin; Suciu, Horatiu

2014-05-01

353

Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment  

PubMed Central

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

Mouchtouris, Nikolaos; Chitale, Ameet; Starke, Robert M.; Tjoumakaris, Stavropoula I.; Rosenwasser, Robert H.; Jabbour, Pascal M.

2015-01-01

354

An unusual presentation of type II Abernethy malformation.  

PubMed

Abernethy malformation is a rare anomaly of the splanchnic venous system. We report a case of an unusual portosystemic shunt via a dilated inferior mesenteric vein. A 20-year-old woman was referred to our hospital with complains of nonspecific abdominal pain for almost 3 years and hematochezia since 15 months old. Computed tomography and further transhepatic splenoportography revealed a hypoplastic portal vein and a giant inferior mesenteric vein, via which part of the portal venous blood drained into the inferior vena cava. The patient underwent a surgical ligation of the portocaval shunt and recovered well. We believe that this is the first case of type II Abernethy malformation presenting as a portosystemic shunt via the giant inferior mesenteric vein. PMID:24530574

Lu, Jingbo; Lin, Zhiqi; Liu, Hao; Liu, Zhengjun

2014-08-01

355

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

PubMed Central

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

2011-01-01

356

A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.  

PubMed

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

Lederer, Damien; Shears, Debbie; Benoit, Valérie; Verellen-Dumoulin, Christine; Maystadt, Isabelle

2014-05-01

357

A gene prenature ovarian failure associated with eyelid malformation maps to chromosomes 3q22-q23  

SciTech Connect

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.

NONE

1996-05-01

358

[Pasqualini's syndrome: hypoandrogenism with spermatogenesis].  

PubMed

Pasqualini and Bur published the first case of eunuchoidism with preserved spermatogenesis in 1950 in Revista de la Asociación Médica Argentina. The hypoandrogenism with spermatogenesis syndrome included: (a) eunuchoidism, (b) testis with normal spermatogenesis and full volume, with mature spermatozoa in a high proportion of seminiferous tubes and undifferentiated and immature Leydig cells (c) full functional compensation through the administration of chorionic gonadotropin hormone, while hCG is administered (d) total urinary gonadotrophins within normal limits (e) this definition supposes the normal activity of the pituitary and the absence of congenital malformations in general. A first step in the understanding of the physiopathogeny of Pasqualini syndrome or the so called "fertile eunuch" syndrome was the absence of LH in plasma and urine of patients. The second breakthrough was the functional and genetic studies that validated the hypothesis of a functional deficit of LH in these men: it will then also be described in some women. Different groups including ours demonstrated in these cases a LH with varying degrees of immunological activity but biologically inactive in most of the patients, due to one or more inactivating mutations in the LHB gene. Finally, the full comprehension of Pasqualini syndrome allowed to reverse the hypoandrogenic phenotype and to restore fertility in these patients through the use of chorionic gonadotropin and the modern in-vitro fertility techniques. This article is an historical review and a tribute to the memory of Rodolfo Q. Pasqualini. PMID:25637904

Valdés Socin, Hernán; Beckers, Albert

2015-01-01

359

Goldenhar Syndrome - Review with Case Series  

PubMed Central

Goldenhar’s syndrome is a rare condition which was described initially in the early 1950s. It is characterized by a combination of anomalies: dermal epibulbar cysts, auricular appendices and malformations of the ears. In 1963, Gorlin suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition and he also included vertebral anomalies as signs of this syndrome. The aetiology of this rare disease has not been fully understood, as it has shown itself to be variable genetically and to be caused due to unclear reasons. Here, we are reporting two cases of Goldenhar’s syndrome, where almost all the classical signs of this rare condition were present. PMID:24959523

Sreenivasan, Arathi; Saraswathy, Gopal K

2014-01-01

360

Epidemiology, diagnostics and treatment of vascular tumours and malformations.  

PubMed

Vascular tumours and vascular malformations are common vasculose anomalies characteristic for dissimilar clinical course, specific biological as well as immune cytological and histological properties. Vascular lesions classification system and their detailed division into groups and subgroups were elaborated and implemented in Rome, in 1996, during meeting of the International Society for the Study of Vascular Anomalies (ISSVA). It was based on modification of an earlier going division by Mullikien and G?owacki from 1982. Infantile hemangiomas are the most numerous group of benign tumours of mesenchymal origin. Vascular malformations appear definitely less often. They are composed of normal endothelium lined displastic vessels which originate from vascular tissue abnormal morphogenesis. In contrast, in hemangiomas, at the proliferation stage, increased, multiplication of endothelial cells is observed as well as of fibroblasts, mastocytes and macrophages. Infantile hemangiomas are usually not present at the moment of birth and white chloasma with superficial teleangiectasis appears which increases within 3-4 weeks and gets bright red colour and reveal very characteristic clinical course basing on intensive growth period and involution long process. Vascular malformations are observed most often at the delivery moment or they may appear at an early childhood. They enlarge proportionally along with the child's growth and their sudden expansion may be triggered by an infection, hormonal changes or trauma. Contrary to hemangiomas, they do not subside spontaneously and their abrupt increase may result in impairment or deformation of important anatomical structures. Infantile hemangiomas and vascular malformations require different and individual treatments which are often multi-stage procedures carried on in specialistic centres of plastic surgery, vascular surgery or maxillofacial surgery. PMID:24979522

Wójcicki, Piotr; Wójcicka, Karolina

2014-01-01

361

Parenting children with anorectal malformations: implications and experiences  

Microsoft Academic Search

Parents play a crucial role in the life of a child suffering from an anorectal malformation (ARM), since their guidance contributes\\u000a to the degree to which the child learns to cope with his or her disability. We investigated whether they experience stress\\u000a in parenting such a child and also attempted to identify somatic or behavioral characteristics in the child that

E. A. M. Hassink; A. T. M. Brugman-Boezeman; L. M. H. Robbroeckx; P. N. M. A. Rieu; E. M. van Kuyk; P. M. A. Wels; C. Festen

1998-01-01

362

VATER association: report of a case with three unreported malformations.  

PubMed Central

The VATER association is the sporadic non-random association of Vertebral anomalies, Anal atresia, Tracheo-oesophageal fistula with Esophageal atresia, Renal defects, and Radial limb dysplasia. Cardiac defects are common, as are other limb malformations. The present report describes a premature infant with most of the known major and minor defects of the association as well as agenesis of the bladder and penis and an askeletal rudimentary tail. The latter have not previously been described. Images PMID:3351894

Dusmet, M; Fête, F; Crusi, A; Cox, J N

1988-01-01

363

Novel Image-Guided Management of a Uterine Arteriovenous Malformation  

SciTech Connect

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.

Przybojewski, Stefan J., E-mail: drstefanp@hotmail.com; Sadler, David J. [University of Calgary, Diagnostic Imaging Department, Foothills Hospital (Canada)

2011-02-15

364

Risk of Endovascular Treatment of Brain Arteriovenous Malformations  

Microsoft Academic Search

Background and Purpose—Independently assessed data on frequency, severity, and determinants of neurological deficits after endovascular treatment of brain arteriovenous malformations (AVMs) are scarce. Methods—From the prospective Columbia AVM Study Project, 233 consecutive patients with brain AVM receiving1 endovascular treatments were analyzed. Neurological impairment was assessed by a neurologist using the Rankin Scale before and after completed endovascular therapy. Multivariate logistic

A. Hartmann; J. Pile-Spellman; C. Stapf; R. R. Sciacca; A. Faulstich; J. P. Mohr; H. C. Schumacher; H. Mast

2002-01-01

365

Clinical and genetic distinction between Walker-Warburg syndrome and muscle- eye- brain disease  

Microsoft Academic Search

Article abstract—Background: Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle- eye-brain disease (MEB), Walker- Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. Lack of consistent ocular abnormalities in FCMD has allowed a clear clinical

B. Cormand; H. Pihko; M. Bayés; L. Valanne; P. Santavuori; B. Talim; R. Gershoni-Baruch; A. Ahmad; H. van Bokhoven; H. G. Brunner; T. Voit; H. Topaloglu; W. B. Dobyns; A.-E. Lehesjoki

366

Odontostomatological aspects in patients with Goldenhar syndrome: a series of 9 patients.  

PubMed

The authors observed and followed nine patients with Goldenhar syndrome to identify the variability and severity malformations mainly affecting the orofacial district, but also other systems. Considering the severity of the lesions and the affected organs and tissues, the authors report preventive and therapeutic approaches, which present considerable difficulties in timing and quality of interventions. PMID:24217685

Cingano, L; Cohen, E; Cohen, A; Giordanetto, J; Loria, P; Calcagno, E

2013-10-01

367

Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation.  

PubMed

We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis. PMID:24998021

Brodsky, Michael C; Turan, Kadriye Erkan; Khanna, Cheryl L; Patton, Alice; Kirmani, Salman

2014-08-01

368

Klippel-Trenaunay-Weber syndrome and intramedullary cervical cavernoma: a very rare association. Case report  

Microsoft Academic Search

BackgroundKlippel-Trenaunay-Weber syndrome is a rare mesodermal phakomatosis characterized by cutaneous hemangiomata, venous varicosities, and osseous–soft tissue hypertrophy of the affected limb. As the pathologic aspect of KTWS arises from the site in which malformations occur, the clinical picture varies widely from patients who complain for cosmetic reasons to patients with life-threatening lesions.

Angelo Pichierri; Manolo Piccirilli; Emiliano Passacantilli; Alessandro Frati; Antonio Santoro

2006-01-01

369

Speech and Language in Wolf-Hirschhorn Syndrome: A Case-Study  

ERIC Educational Resources Information Center

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…

Van Borsel, John; De Grande, Sigrid; Van Buggenhout, Griet; Fryns, Jean-Pierre

2004-01-01

370

Mild Degree of Poland’s Syndrome Reconstruction with Customized Silicone Prosthesis  

Microsoft Academic Search

Poland’s Syndrome consists of unilateral absence of the pectoralis major muscle, ipsilateral symbrachydaktylia, and occasionally associated other malformations of the anterior chest wall and breast. Mild Poland’s Syndrome is characterized by asymmetry of the breasts with partial absence of the pectoralis major muscle. This report describes a 19-year-old man with unilateral hypoplasia of the breast, absence of the anterior axillary

G. Avc?; A. M?s?rl?o?lu; G. Eker; T. Aköz

2003-01-01

371

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy.  

PubMed

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

Rad, Elaheh Malakan

2014-09-01

372

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy  

PubMed Central

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

Rad, Elaheh Malakan

2014-01-01

373

Right Bochdalek Hernia Associated with Kartagener Syndrome: Developmental and Clinical Observations  

PubMed Central

We present a novel case of the association of right-sided Bochdalek hernia, a diaphragmatic life-threatening malformation, and Kartagener syndrome, which is characterized by congenital bronchiectasis, chronic sinusitis, and situs inversus. The developmental and clinical findings are discussed. When an association of diaphragmatic hernia with situs viscerum inversus is encountered, physicians should be mindful of the possibility of Kartagener syndrome because this condition could significantly affect the morbidity of the patient.

Romeo, Carmelo; Turiaco, Nunzio; Gitto, Eloisa; Borruto, Francesca Astra; Santoro, Giuseppe

2013-01-01

374

[Clinical diagnosis of Kabuki syndrome: phenotype and associated abnormalities in two new cases].  

PubMed

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

Andersen, María Soledad; Menazzi, Sebastián; Brun, Paloma; Cocah, Cecilia; Merla, Giuseppe; Solari, Andrea

2014-02-01

375

Costello Syndrome and the Ras-Extracellular Signal Regulated Kinase (ERK) Pathway  

Microsoft Academic Search

\\u000a Costello syndrome is a multiple congenital malformation\\/ mental retardation (MCA\\/MR) syndrome (OMIM # 218040) characterized by prenatally increased\\u000a growth with subsequent (postnatal) growth retardation (usually as a result of severe postnatal feeding difficulties), distinctive\\u000a coarse face (full lips, large mouth) with macrocephaly, loose skin resembling cutis laxa, diffuse hypotonia and laxity of\\u000a the small joints with ulnar deviation of the

Ignacio Pascual-Castroviejo; Martino Ruggieri

376

Malformations of cortical development: clinical features and genetic causes.  

PubMed

Malformations of cortical development are common causes of developmental delay and epilepsy. Some patients have early, severe neurological impairment, but others have epilepsy or unexpected deficits that are detectable only by screening. The rapid evolution of molecular biology, genetics, and imaging has resulted in a substantial increase in knowledge about the development of the cerebral cortex and the number and types of malformations reported. Genetic studies have identified several genes that might disrupt each of the main stages of cell proliferation and specification, neuronal migration, and late cortical organisation. Many of these malformations are caused by de-novo dominant or X-linked mutations occurring in sporadic cases. Genetic testing needs accurate assessment of imaging features, and familial distribution, if any, and can be straightforward in some disorders but requires a complex diagnostic algorithm in others. Because of substantial genotypic and phenotypic heterogeneity for most of these genes, a comprehensive analysis of clinical, imaging, and genetic data is needed to properly define these disorders. Exome sequencing and high-field MRI are rapidly modifying the classification of these disorders. PMID:24932993

Guerrini, Renzo; Dobyns, William B

2014-07-01

377

Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis  

SciTech Connect

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.

Sundelin, B.; Eriksson, A.K. [Stockholm Univ. (Sweden). Inst. of Applied Environmental Research

1995-12-31

378

Guidelines for the treatment of head and neck venous malformations  

PubMed Central

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

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

379

Surgical treatment for kyphoscoliosis in Cohen syndrome.  

PubMed

Cohen syndrome is a very rare disease. Complication by spinal deformity has been reported, but management and surgery for spinal deformity in Cohen syndrome has not been previously described. The objective of this study was to examine the outcome of surgical treatment for kyphoscoliosis of Cohen syndrome with a literature review. The patient was a 14-year-old male with the characteristics of Cohen syndrome: truncal obesity, mental retardation, arachnodactyly, microcephalia, and a facial malformation. Scoliosis was conservatively treated with a brace at 13 years of age, but the spinal deformity rapidly progressed within a year. Plain radiographs before surgery showed scoliosis of 47 degrees (T5-T11) and 79 degrees (T11-L3), and kyphosis of 86 degrees (T7-L1). One-stage anteroposterior corrective fusion of T4-L3 was scheduled after 2-week Halo traction. Postoperative respiratory management was carefully performed because of Cohen syndrome-associated facial malformation, obesity, and reduced muscle tonus. Respiration was managed with intubation until the following day and no respiratory problems occurred. After surgery, thoracolumbar scoliosis was 28 degrees (correction rate: 65%). Kyphosis was markedly improved from 86 degrees to 20 degrees, achieving a favorable balance of the trunk. The outcome is favorable at 6.5 years after surgery. In conclusion, Cohen syndrome is often complicated by spinal deformity, particularly kyphosis, that is likely to progress even in adulthood. In our patient, spinal deformity progressed within a short period, even with brace treatment. Surgery should be required before progression to the severe spinal deformity with careful attention to general anesthesia. PMID:24640185

Imagama, Shiro; Tsuji, Taichi; Ohara, Tetsuya; Katayama, Yoshito; Goto, Manabu; Ishiguro, Naoki; Kawakami, Noriaki

2013-08-01

380

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.  

PubMed

A 2 ½-year-old girl with multiple congenital anomalies and a de novo 5.6-Mb deletion on chromosome 13q12.11-13q12.13 is reported. She showed choanal atresia, scalp aplasia cutis, mild dysmorphic features, severe malformation of the hands and feet, Sylvian aqueductal stenosis, hydrocephalus, small cerebellum with pointed cerebellar tonsils, cervical, lumbar and sacral clefting, single central incisor and mild developmental delay. The girl's anomalies were compared with: (A) one boy reported by each of Der Kaloustian et al. [2011] and Tanteles et al. [2011] with similar, albeit smaller, 2.1 to 2.9?Mb deletions in which the abnormalities consisted of mild facial dysmorphism, mild malformations of the fingers and/or toes, and developmental delay; (B) one girl reported by Friedman et al. [2006] with similar, albeit larger, 5.7?Mb deletion with mild developmental delay and haematological abnormalities; (C) one girl reported by Slee et al. [1991] with a deletion of band q12.2 in chromosome 13, who had Moebius syndrome with facial dysmorphism, high arched palate, micrognathia, and small tongue with no abnormalities of the extremities; and (D) seven additional individuals recorded in the DECIPHER 6.0 database who all had dysmorphic features and developmental delay plus a spectrum of clinical manifestations including deafness, ataxia/oculomotor apraxia, spasticity, small testes, and mild fingers' anomalies. The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome. PMID:24807585

Pavone, Piero; Briuglia, Silvana; Falsaperla, Raffaele; Warm, Amiel; Pavone, Vito; Bernardini, Laura; Novelli, Antonio; Praticò, Andrea D; Salpietro, Vincenzo; Ruggieri, Martino

2014-07-01

381

Refined localization of the Prieto-syndrome locus  

SciTech Connect

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.

Martinez, F.; Prieto, F. [Unidad de Genetica, Valencia (Spain)] [Unidad de Genetica, Valencia (Spain); Gal, A. [Universitaets-Krankenhaus Eppendorf, Hamburg (Germany)] [Universitaets-Krankenhaus Eppendorf, Hamburg (Germany)

1996-07-12

382

Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.  

PubMed

Cranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure. Herein, we describe a new patient with cranio-ectodermal dysplasia. Unlike previously reported cases, this 4-year-old child presented with tubulo-interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes. PMID:17022080

Zaffanello, Marco; Diomedi-Camassei, Francesca; Melzi, Maria Luisa; Torre, Giuliano; Callea, Francesco; Emma, Francesco

2006-11-01

383

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation  

PubMed Central

Dandy-Walker malformation (DWM), the most common human cerebellar malformation, has only one characterized associated locus1,2. Here we characterize a second DWM-linked locus on 6p25.3, showing that deletions or duplications encompassing FOXC1 are associated with cerebellar and posterior fossa malformations including cerebellar vermis hypoplasia (CVH), mega-cisterna magna (MCM) and DWM. Foxc1-null mice have embryonic abnormalities of the rhombic lip due to loss of mesenchyme-secreted signaling molecules with subsequent loss of Atoh1 expression in vermis. Foxc1 homozygous hypomorphs have CVH with medial fusion and foliation defects. Human FOXC1 heterozygous mutations are known to affect eye development, causing a spectrum of glaucoma-associated anomalies (Axenfeld-Rieger syndrome, ARS; MIM no. 601631). We report the first brain imaging data from humans with FOXC1 mutations and show that these individuals also have CVH. We conclude that alteration of FOXC1 function alone causes CVH and contributes to MCM and DWM. Our results highlight a previously unrecognized role for mesenchyme-neuroepithelium interactions in the mid-hindbrain during early embryogenesis. PMID:19668217

Aldinger, Kimberly A; Lehmann, Ordan J; Hudgins, Louanne; Chizhikov, Victor V; Bassuk, Alexander G; Ades, Lesley C; Krantz, Ian D; Dobyns, William B; Millen, Kathleen J

2010-01-01

384

Multiple skeletal anomalies in the "13q-" syndrome.  

PubMed

A patient with the "13q-" syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved. PMID:668715

Chemke, J; Fishel, E; Zalish, M; Sagiv, M

1978-05-22

385

Successful use of spinal anesthesia in a patient with severe Klippel–Trénaunay syndrome associated with upper airway abnormalities and chronic Kasabach–Merritt coagulopathy  

Microsoft Academic Search

Klippel–Trénaunay syndrome is a rare disorder characterized by the triad of capillary or cavernous hemangiomas, venous varicosities\\u000a or malformations, and soft tissue or bone hypertrophy. Neuraxial anesthesia in patients with Klippel–Trénaunay syndrome has\\u000a been infrequently described and has not been previously reported when accompanied by consumptive coagulopathy with thrombocytopenia\\u000a (Kasabach–Merritt syndrome). The authors describe their clinical management of a 23 year-old

Elena J. HolakPaul; Paul S. Pagel

2010-01-01

386

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities  

PubMed Central

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

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

387

Al-Awadi/Raas-Rothschild Syndrome in a Newborn with Additional Anomalies  

PubMed Central

Al-Awadi/Raas-Rothschild (AARR) syndrome is a rare phocomelia syndrome characterized by limb/pelvic hypoplasia/aplasia, renal anomalies such as horseshoe and polycystic kidney, and abnormal facial features including cleft palate, hypertelorism and micro-retrognatia. Autosomal recessive inheritance has been proposed for AARR syndrome. In this report a boy affected with AARR syndrome is presented. The previous pregnancy of the mother was terminated because of lower limb agenesis detected at 14th week of gestation. This report emphasizes the importance of recognizing severe pelvic and limb deficiencies in newborns with AARR syndrome and differentiating the syndrome from other multiple malformation syndromes. Fetal ultrasonography at 15th week of gestation is helpful in diagnosing the major extremity anomalies in the fetus. Conflict of interest:None declared. PMID:21274338

Alp, Esma; Atabek, Mehmet Emre; Pirgon, Özgür

2010-01-01

388

Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome.  

PubMed

Stewart-Bluefarb acroangiodermatitis is the occurrence of pseudo-kaposiform changes with an underlying arterio-venous malformation. Parkes-Weber syndrome is a triad of arterio-venous malformation with varicose veins with bony and soft-tissue hypertrophy involving the extremity. A 13 year-old-female presented with ulcerated growth with bleeding episodes on right leg since past four years. A reddish discoloration over right leg was noticed at four years of age which remained unchanged until nine years of age, after which it showed rapid increase in size along with disproportionate increase in length and girth of right lower limb. Examination revealed hyperpigmented soft verrucous plaque over the right lower one-third of leg, along with presence of ulcers and dilated tortuous veins in the right lower leg with thrill and bruit over the right popliteal and inguinal region. A differential diagnosis of verrucous hemangioma and arterio-venous malformation with pseudo-kaposiform change was considered. Skin biopsy showed multiple fenestrated capillaries with perivascular lymphocyte infiltrate suggestive of capillary malformations. X-ray showed osteolytic defect in right tibia. Duplex ultrasound and magnetic resonance imaging of right leg showed multiple fast flowing small and medium sized arterio-venous malformations of small to moderate size. Thus, on the basis of clinical and radiological features, we made a diagnosis of Stewart-Bluefarb type of acroangiodermatitis with Parkes-Weber syndrome. She was managed conservatively with compression stockings. PMID:25071266

Ghia, Deepti H; Nayak, Chitra S; Madke, Bhushan S; Gadkari, Reshma P

2014-07-01

389

Stewart-Bluefarb Acroangiodermatitis in a Case of Parkes-Weber Syndrome  

PubMed Central

Stewart-Bluefarb acroangiodermatitis is the occurrence of pseudo-kaposiform changes with an underlying arterio-venous malformation. Parkes-Weber syndrome is a triad of arterio-venous malformation with varicose veins with bony and soft-tissue hypertrophy involving the extremity. A 13 year-old-female presented with ulcerated growth with bleeding episodes on right leg since past four years. A reddish discoloration over right leg was noticed at four years of age which remained unchanged until nine years of age, after which it showed rapid increase in size along with disproportionate increase in length and girth of right lower limb. Examination revealed hyperpigmented soft verrucous plaque over the right lower one-third of leg, along with presence of ulcers and dilated tortuous veins in the right lower leg with thrill and bruit over the right popliteal and inguinal region. A differential diagnosis of verrucous hemangioma and arterio-venous malformation with pseudo-kaposiform change was considered. Skin biopsy showed multiple fenestrated capillaries with perivascular lymphocyte infiltrate suggestive of capillary malformations. X-ray showed osteolytic defect in right tibia. Duplex ultrasound and magnetic resonance imaging of right leg showed multiple fast flowing small and medium sized arterio-venous malformations of small to moderate size. Thus, on the basis of clinical and radiological features, we made a diagnosis of Stewart-Bluefarb type of acroangiodermatitis with Parkes-Weber syndrome. She was managed conservatively with compression stockings. PMID:25071266

Ghia, Deepti H; Nayak, Chitra S; Madke, Bhushan S; Gadkari, Reshma P

2014-01-01

390

Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings  

Microsoft Academic Search

Loeys-Dietz syndrome (LDS) is an increasingly recognized autosomal-dominant connective tissue disorder with distinctive radiological\\u000a manifestations, including arterial tortuosity\\/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits\\u000a a more aggressive course than similar disorders, such as Marfan or the vascular subtype of Ehlers-Danlos syndrome, with morbidity\\u000a and mortality typically resulting from complications of aortic\\/arterial dissections. Early diagnosis, short-interval follow-up\\u000a imaging and prophylactic

Vivek B. Kalra; John W. Gilbert; Ajay Malhotra

391

Cervico-oculo-acoustic (Wildervanck) syndrome: clinicoradiological findings  

PubMed Central

We describe a girl presented with facial asymmetry and oral mucosal cleft and with further investigations other anomalies were found including hearing loss, Duane syndrome, Klippel-Feil anomaly, Chiari malformation and accessory bone mass in mandibular ramus leading to the clinical diagnosis of cervico-oculo-acoustic (Wildervanck) syndrome (COAS). The patient underwent surgical occipital decompression by preforming suboccipital craniectomy and C1 posterior laminectomy to relieve the cerebellar tonsillar herniation. Surgical removal of mandibular bony mass was done and the patient is now under orthodontic treatment to correct facial asymmetry and malocclusion. PMID:23616324

Rihani, Farouk Bassam

2013-01-01

392

Marfan Syndrome  

MedlinePLUS

... doctors discovered a connective tissue disorder known as Loeys-Dietz syndrome, which has several characteristics that overlap with those ... the two is different. A diagnostic test for Loeys-Dietz syndrome is available. What Types of Doctors Treat Marfan ...

393

Morquio syndrome  

MedlinePLUS

Morquio syndrome is an inherited disease of metabolism in which the body is missing or doesn't have ... Morquio syndrome is an autosomal recessive trait. If both parents carry the defective gene related to this condition, ...

394

Reye Syndrome  

MedlinePLUS

... What to Expect Reye Syndrome KidsHealth > Parents > Infections > Bacterial & Viral Infections > Reye Syndrome Print A A A ... include: frequent vomiting tiredness or sleepiness in babies, diarrhea and rapid breathing irritability or aggressive behavior Other ...

395

Myelodysplastic Syndromes  

MedlinePLUS

... with blood clotting. If you have a myelodysplastic syndrome, the stem cells do not mature into healthy ... lead to infection, anemia, or easy bleeding. Myelodysplastic syndromes often do not cause early symptoms and are ...

396

Down Syndrome  

MedlinePLUS

... Digestive System How the Body Works Main Page Down Syndrome KidsHealth > Kids > Health Problems > Birth Defects & Genetic Problems > ... skills. Continue Do a Lot of People Have Down Syndrome? About 1 out of every 800 babies born ...

397

Klinefelter Syndrome  

MedlinePLUS

... Information Clinical Trials Resources and Publications Klinefelter Syndrome (KS): Condition Information Skip sharing on social media links Share this: Page Content What is KS? The term "Klinefelter (pronounced KLAHYN-fel-ter ) syndrome," ...

398

Tourette Syndrome  

MedlinePLUS

If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics ... words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. ...

399

Sotos Syndrome  

MedlinePLUS

NINDS Sotos Syndrome Information Page Synonym(s): Cerebral Gigantism Table of Contents (click to jump to sections) What is Sotos Syndrome? Is there any treatment? What is the prognosis? What research is ...

400

Mutations in ?- and ?-tubulin encoding genes: implications in brain malformations.  

PubMed

The tubulin gene family is mainly expressed in post-mitotic neurons during cortical development with a specific spatial and temporal expression pattern. Members of this family encode dimeric proteins consisting of two closely related subunits (? and ?), representing the major constituents of microtubules. Tubulin genes play a crucial role in the mechanisms of the Central Nervous System development such as neuronal migration and axonal guidance (axon outgrowth and maintenance). Different mutations in ?/?-tubulin genes (TUBA1A, TUBA8, TUBB2A, TUBB4A, TUBB2B, TUBB3, and TUBB) might alter the dynamic properties and functions of microtubules in several ways, effecting a reduction in the number of functional tubulin heterodimers and causing alterations in GTP binding and disruptions of the binding of other proteins to microtubules (motor proteins and other microtubule interacting proteins). In recent years an increasing number of brain malformations has been associated with mutations in tubulin genes: malformations of cortical development such as lissencephaly and various grades of gyral disorganization, focal or diffuse polymicrogyria and open or closed-lips schizencephaly as likely consequences of an altered neuronal migration process; abnormalities or agenesis of the midline commissural structures (anterior commissure, corpus callosum and fornix), hypoplasia of the oculomotor and optic nerves, dysmorphisms of the hind-brain as expression of axon guidance disorders. Dysmorphisms of the basal ganglia (fusion between the caudate nucleus and putamen with absence of the anterior limb of the internal capsule) and hippocampi were also observed. A rare form of leukoencephalopathy characterized by hypomyelination with atrophy of the basal ganglia an cerebellum (H-ABC) was also recently described. The present review, describing the structural and functional features of tubulin genes, aims to revise the main cerebral associated malformations and related clinical aspects, suggesting a genotype-phenotype correlation. PMID:25008804

Romaniello, Romina; Arrigoni, Filippo; Bassi, Maria Teresa; Borgatti, Renato

2015-03-01

401

Late presentation of congenital cystic adenomatoid malformation of the lung  

SciTech Connect

Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change.

Hulnick, D.H.; Naidich, D.P.; McCauley, D.I.; Feiner, H.D.; Avitabile, A.M.; Greco, M.A.; Genieser, N.B.

1984-06-01

402

[Some features of the nose in craniofacial malformations].  

PubMed

In craniofacial malformations, the nose is variably affected: in its location, its shape or by lack of development. In this short chapter, some of the common problems encountered by the specialized teams are summarized. Craniofacial astronomies can modify the skeleton of the nose during growth, sometime at an early age. However, most rhinoplasties are performed at adulthood. The nasal pyramid may present deformations that produce functional and aesthetics impairment that should be treated when necessary. Respiratory problems should be recognized as early as possible and treated in priority. PMID:25303936

Arnaud, E

2014-12-01

403

Polypoid Arteriovenous Malformation Presenting with Jejunojejunal Intussusceptions in an Adult  

PubMed Central

Jejunal polypoid arteriovenous malformations (AVMs) and jejunojejunal intussusceptions are both rare. Here, we present the case of a 61-year-old woman who suffered intermittent episodes of abdominal pain over the course of 13 years. A computed tomography scan of her abdomen and pelvis revealed a distal jejunojejunal intussusception. A suspected low density mass was observed at the tip of the intussusception. Treatment comprised laparoscopic small bowel resection with end-to-end jejunostomy. The final diagnosis was a polypoid AVM measuring 5×3.5×3 cm. We suggest that polypoid AVM should be considered as a differential diagnosis in patients presenting with small intestinal neoplasms. PMID:25505727

Lim, Doo-Ho; Seo, Myeongsook; Yun, Ji Hyun; Kim, Tae Hyung; Jung, Hwoon-Yong; Kim, Jin-Ho; Park, Young Soo

2014-01-01

404

Treatment of vascular malformation of the gastrointestinal tract  

NASA Astrophysics Data System (ADS)

Vascular malformations of the gastrointestinal tract are rare phenomenon. They are generally manifested by upper or lower GI - bleeding and do not resolve spontaneously. Emergency intervention is necessary. This paper reports on 10 cases, treated in the Dept. of Pediatric surgery of the FU Berlin, recorded from 1981 to 1999. We use the Nd:YAG laser 1064 nm, Fibertom 5100, Dornier, Germany, with a 600nm barefiber. Reduction in size of the hemangiomas and stop of the GI-bleeding was achieved in all cases.

Waldschmidt, Juergen; Stroedter, L.; Doede, T.; Kischkel, A.

2000-06-01

405

Down syndrome  

MedlinePLUS

Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46. ... In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. ...

406

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

Velocardiofacial syndrome (VCFS), also known as DiGeorge, conotruncal anomaly face, and Cayler syndromes, is caused by a microdeletion in the long arm of Chromosome 22. We review the history of the syndrome from the first clinical reports almost half a century ago to the current intriguing molecular findings associating genes from the…

Gothelf, Doron; Frisch, Amos; Michaelovsky, Elena; Weizman, Abraham; Shprintzen, Robert J.

2009-01-01

407

Rowell syndrome  

PubMed Central

Rowell syndrome is a rare disease consisting of erythema multiforme-like lesions associated with lupus erythematosus. The syndrome occurs mostly in middle-aged women. The authors describe the syndrome in a 15-year-old boy who responded well to systemic steroids and hydroxychloroquine. PMID:25506561

Bhat, Ramesh Y; Varma, Chaitanya; Bhatt, Sonia; Balachandran, C

2014-01-01

408

Clinical features and revised diagnostic criteria in Joubert syndrome.  

PubMed

The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the "molar tooth sign"--deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. The central nervous system malformation spectrum observed in radiologic and neuropathologic studies accounts for many clinical features of Joubert syndrome. The developmental delay and cognitive impairment cannot be fully explained by the hindbrain malformation and probably result from dysfunction of the cerebral hemispheres. Although related conditions with vermian hypoplasia or aplasia (including Arima; Senior-Loken; and cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndromes) can mimic Joubert syndrome, detailed imaging data are lacking in such cases. We propose a revision in diagnostic criteria for Joubert syndrome. PMID:10488903

Maria, B L; Boltshauser, E; Palmer, S C; Tran, T X

1999-09-01

409

Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome  

PubMed Central

We report a 15-year-old girl who presented with spinal malsegmentation, associated with other skeletal anomalies. The spinal malsegmentation was subsequently discovered to be part of the spondylocarpotarsal synostosis syndrome. In addition, a distinctive craniocervical malformation was identified, which included atlanto-axial rotatory fixation. The clinical and the radiographic findings are described, and we emphasise the importance of computerised tomography to characterize the craniocervical malformation complex. To the best of our knowledge, this is the first clinical report of a child with spondylocarpotarsal synostosis associated with atlanto-axial rotatory fixation. PMID:17042937

Al Kaissi, Ali; Ben Chehida, Farid; Gharbi, Hassan; Ben Ghachem, Maher; Grill, Franz; Klaushofer, Klaus

2006-01-01

410

A newborn with overlapping features of AEC and EEC syndromes.  

PubMed

Ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome is the prototype of several p63 conditions, which include ankyloblepharon, ectodermal dysplasia, clefting (AEC) syndrome, limb-mammary syndrome (LMS), Rapp-Hodgkin syndrome (RHS), ADULT syndrome, and others. All these disorders include combinations of ectodermal dysplasia, orofacial clefting and limb malformations in variable severity. A newborn patient is presented with diffuse erythematous and desquamating skin lesions and anal atresia. She also had sparse and lightly colored thin hair, deeply set eyes, hypoplastic alae nasi, and a short philtrum. Cleft lip/palate and ankyloblepharon were not present. Complete cutaneous syndactyly was present on both hands in between the third and fourth fingers. Mild ectrodactyly was evident on all four extremities in between first and second digits. There was post-axial polydactyly on both feet. Anal atresia was present and defecation occurred through a rectovaginal fistula. The patient represented an interesting overlapping clinical condition between AEC and EEC syndromes. Diffuse skin lesions with excoriation and desquamation suggest AEC syndrome, despite the absence of ankyloblepharon, however; ectrodactyly and polydactyly strongly suggest the EEC syndrome. C308Y mutation in exon 8 of TP63 gene was detected, which was previously described to lead only to EEC syndrome and not to any of the other allelic conditions. These data emphasize the large degree of clinical variability that may be seen for specific TP63 mutations. PMID:22065614

Celik, Tolga Hasan; Buyukcam, Ayse; Simsek-Kiper, Pelin Ozlem; Utine, Gulen Eda; Ersoy-Evans, Sibel; Korkmaz, Ayse; Yntema, Helger G; Bodugroglu, Koray; Yurdakok, Murat

2011-12-01

411

[Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers].  

PubMed

Three sibs with Roberts syndrome SC-phocomelia are presented. The first one, a nine years old girl, with a malformative syndrome consistent with SC-phocomelia: symmetrical reductive malformations of the upper limbs; flexion contractures of both knee joints; multiple minor anomalies, including hemangioma of the face, hypoplastic nose, dysplastic ears and scanty, silvery blond hair; intrauterine and extrauterine growth retardation; psychomotor and mild mental retardation. Cytogenetic study reveals a centromeric abnormality consistent with an unusual sister chromatid disjunction in all metaphases, that can also be a useful tool in prenatal diagnosis. Next two sibs were males and offspring of a twin pregnancy and were found to have a malformative syndrome consistent with Roberts syndrome: low birth weight; dysplastic ears; hypertelorism, exophthalmos and cloudy corneas; bilateral cleft lip and cleft palate; severe reductive defects in both upper limbs and only syndactylia in the lower ones. Both sibs died soon after delivery. Autosomic recessive pattern of inheritance of this disorder, presentation in the same sibship of Roberts and SC-phocomelia syndromes, as different degrees of expression of the same disorder, and relationship of cytogenetic findings with cell division are discussed. PMID:3057982

Antiñolo Gil, G; Borrego López, S; Cañadas García de León, M; Sánchez García, J

1988-09-01

412

COMPARING THE EFFECTS OF RETINOIC ACID ON AMPHIBIAN LIMB DEVELOPMENT AND LETHALITY: CHRONIC EXPOSURE RESULTS IN LETHALITY NOT LIMB MALFORMATIONS  

EPA Science Inventory

Recently, high frequencies of malformations have been reported in amphibians across the United States. It has been suggested that the malformations may be the result of xenobiotic disruption of retinoid signaling pathways during embryogenesis and tadpole development. Therefore, a...

413

Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain  

PubMed Central

Congenital malformations the human hindbrain, including the cerebellum, are poorly understood largely because their recognition is a relatively recent advance for imaging diagnostics. Cerebellar malformations are the most obvious and best characterized hindbrain malformations due to their relative ease to view by MRI and the recent identification of several causative genes1. Malformations of the pons and medulla have also been described both in isolation and in association with cerebellar malformations2. Although little is understood regarding the specific developmental pathologies underlying hindbrain malformations in humans, much is known regarding the mechanisms and genes driving hindbrain development in vertebrate model organisms. Thus, studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to inform our thinking regarding disrupted developmental processes and candidate genes. Here we survey the basic principles of vertebrate hindbrain development and integrate our current knowledge of human hindbrain malformations into this framework. PMID:19778712

Aldinger, Kimberly A.; Elsen, Gina E.; Prince, Victoria E.; Millen, Kathleen J.

2009-01-01

414

Leaping lopsided: a review of the current hypotheses regarding etiologies of limb malformations in frogs  

USGS Publications Warehouse

Recent progress in the investigation of limb malformations in free-living frogs has underlined the wide range in the types of limb malformations and the apparent spatiotemporal clustering of their occurrence. Here, we review the current understanding of normal and abnormal vertebrate limb development and regeneration and discuss some of the molecular events that may bring about limb malformation. Consideration of the differences between limb development and regeneration in amphibians has led us to the hypothesis that some of the observed limb malformations come about through misdirected regeneration. We report the results of a pilot study that supports this hypothesis. In this study, the distal aspect of the right hindlimb buds of X. laevis tadpoles was amputated at the pre-foot paddle stage. The tadpoles were raised in water from a pond in Minnesota at which 7% of surveyed newly metamorphosed feral frogs had malformations. Six percent (6 of 100) of the right limbs of the tadpoles raised in pond water developed abnormally. One truncated right limb was the only malformation in the control group, which was raised in dechlorinated municipal water. All unamputated limbs developed normally in both groups. Three major factors under consideration for effecting the limb malformations are discussed. These factors include environmental chemicals (primarily agrichemicals), encysted larvae (metacercariae) of trematode parasites, and increased levels of ultraviolet light. Emphasis is placed on the necessary intersection of environmental stressors and developmental events to bring about the specific malformations that are observed in free-living frog populations.

Loeffler, I.K.; Stocum, D.L.; Fallon, J.F.; Meteyer, C.U.

2001-01-01

415

A review of contemporary options for medical management of hemangiomas, other vascular tumors, and vascular malformations.  

PubMed

Vascular anomalies include vascular tumors and vascular malformations. With growing pharmacologic options and parallels to cancer treatment and biology, the hematologist-oncologist has assumed a more prominent role in clinical care and research relating to these diagnoses. This also is a growing area for targeted therapies and drug repositioning. We performed a review of contemporary options for medical management of these lesions. PubMed was searched for "vascular anomaly", "hemangioma", "vascular malformation", "arteriovenous malformation", "capillary malformation", "cerebral cavernous malformation", "lymphatic malformation", and "venous malformation", each with "drug treatment" as a modifier. Manuscripts were reviewed to verify diagnoses, indications for treatment, dose-schedules, evidence of effectiveness, toxicities, and mechanisms of action. ClinicalTrials.gov also was reviewed for relevant trials. More than 20 agents were identified which have been used to treat vascular anomalies. Rigorous studies are lacking for many of these. The rarity of these tumors has limited development of medical approaches to treatment. Cooperative group trials will be needed to prove the effectiveness of drugs which have shown promise in cases and small series. The observant clinician remains a powerful tool for identifying potential new treatments for vascular tumors and malformations. PMID:23665062

Blatt, Julie; McLean, Thomas W; Castellino, Sharon M; Burkhart, Craig N

2013-09-01

416

Congenital malformations in offspring of women with hyperglycemia first detected during pregnancy  

Microsoft Academic Search

Objectives: Our aim was to determine risk factors for congenital malformations in offspring of women with hyperglycemia first detected during pregnancy (i.e., women with gestational diabetes). Study Design: A total of 3743 pregnancies complicated by gestational diabetes mellitus delivered at >20 weeks of gestation were reviewed for the presence of congenital malformations diagnosed before hospital discharge. Anomalies were categorized as

Ute M. Schaefer; Giulana Songster; Anny Xiang; Kathleen Berkowitz; Thomas A. Buchanan; Siri L. Kjos

1997-01-01

417

Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach  

Microsoft Academic Search

Genetic malformations of the cerebral cortex are important causes of neurologic morbidity in children because they are often associated with developmental delay, motor disturbances (cerebral palsy), and epilepsy. Primary autosomal recessive microcephaly is a cortical malformation with a low incidence of epilepsy. One of its causative genes, ASPM, might play an important role in regulating proliferation of neuronal progenitor cells.

Ganeshwaran H. Mochida

2004-01-01

418

Topical Review: Cortical Malformation and Pediatric Epilepsy: A Molecular Genetic Approach  

Microsoft Academic Search

Genetic malformations of the cerebral cortex are important causes of neurologic morbidity in children because they are often associated with developmental delay, motor disturbances (cerebral palsy), and epilepsy. Primary autosomal recessive microcephaly is a cortical malformation with a low incidence of epilepsy. One of its causative genes, ASPM, might play an important role in regulating proliferation of neuronal progenitor cells.

Ganeshwaran H. Mochida

2005-01-01

419

The cyclops and the mermaid: an epidemiological study of two types of rare malformation  

Microsoft Academic Search

Infants with cyclopia or sirenomelia are born at an approximate rate of 1 in 100,000 births. Eight malformation monitoring systems around the world jointly studied the epidemiology of these rare malformations: 102 infants with cyclopia, 96 with sirenomelia, and one with both conditions were identified among nearly 10.1 million births. Maternal age is somewhat increased for cyclopia, indicating the likely

B Källén; E E Castilla; P A Lancaster; O Mutchinick; L B Knudsen; M L Martínez-Frías; P Mastroiacovo; E Robert

1992-01-01

420

Long-time octreotide in an adolescent with severe haemorrhagic gastrointestinal vascular malformation  

Microsoft Academic Search

Gastrointestinal vascular malformations are a rare cause of acute or chronic blood loss. Usually they are treated by endoscopic obliteration or surgical resection. When such a therapy is inapplicable, pharmacotherapy may be required. At the age of 15 years, our female patient suffered from transfusion dependent recurrent gastrointestinal haemorrhage due to multiple gastrointestinal vascular malformations. Gastroscopy, coloscopy and capsule endoscopy

Carl Friedrich Classen; Dieter Haffner; Christina Hauenstein; Ricarda Wolf; Ulrike Kyank

2011-01-01

421

Brainstem auditory evoked potential abnormalities in vascular malformations of the posterior fossa  

Microsoft Academic Search

Recent reports indicate that malformations of arteries and veins in the posterior fossa are a common cause of facial spasm and trigeminal neuralgia. More rarely they may also cause facial nerve paresis and hearing loss. When vascular malformations are present, brainstem auditory evoked potentials (BAEPs) sometimes show abnormalities similar to those usually recorded in patients with tumours in the cerebellopontine

U. W. Buettner; M. Stöhr; E. Koletzki

1983-01-01

422

[Spain, New Spain and the autopsy of an anatomic malformation].  

PubMed

Almost 250 years ago the autopsy of Agustin de Ahumada y Villalon was performed by Domingo Russi, Chief Surgeon at the Royal Hospital for Natives in Mexico City. This situation will be unimportant if the former wasn't the 42nd Viceroy of New Spain; his autopsy showed a situs inversus totalis, and probably this is the first scientific report of such malformation. For many years the report by Mathew Baillie (1761-1823) of an autopsy with the same findings as the first of its kind was believed, but actually the former almost three decades earlier was performed. In 1688 Jean M. Mery (1645-1722) at the Paris Academy of Medicine gave a talk reporting autopsy findings of the same malformations. Some aspects of the life of both personages are described, the autopsy report is showed and a short history about postmortem studies are mentioned mainly those made in Spain and New Spain. Through many centuries a very close relationship has been kept and medicine has not been the exception, in the field of human pathology in the middle third of the 20th century a distinguished pathologist, Dr. Isaac Costero-Tudanca, migrated to Mexico and gave flowering to pathology and a great generation of Mexican pathologists was generated headed by Dr. Ruy Perez-Tamayo. PMID:18807740

de la Garza-Villaseñor, J Lorenzo; Pantoja-Millán, Juan Pablo

2008-01-01

423

PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations  

PubMed Central

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype. PMID:25354366

Cigoli, Maria Sole; Avemaria, Francesca; De Benedetti, Stefano; Gesu, Giovanni P.; Accorsi, Lucio Giordano; Parmigiani, Stefano; Corona, Maria Franca; Capra, Valeria; Mosca, Andrea; Giovannini, Simona; Notturno, Francesca; Ciccocioppo, Fausta; Volpi, Lilia; Estienne, Margherita; De Michele, Giuseppe; Antenora, Antonella; Bilo, Leda; Tavoni, Antonietta; Zamponi, Nelia; Alfei, Enrico; Baranello, Giovanni; Riva, Daria; Penco, Silvana

2014-01-01

424

Dural arteriovenous malformations in the anterior cranial fossa.  

PubMed

Two cases of dural arteriovenous malformation (DAVM) fed by the anterior ethmoidal artery in the anterior cranial fossa are reported, one of them examined by magnet resonance imaging (MRI). Only one other case with MRI findings so far has been published. Fourty-eight previously reported cases are reviewed. One of our patients presented with subdural haematoma (SDH) without subarachnoid or intracerebral haemorrhage. The other patient had a nasal bleed without any neurological manifestations. In comparison with previously reported cases, the clinical manifestation of our cases is infrequent (1 patient with nasal bleed, and 2 patients with pure SDH that is 2 and 4%, respectively, in the literature). Feeder was the anterior ethmoidal artery either unilateral or bilateral. Drainage of DAVMs was through a markedly dilated vascular sac into the superior sagittal sinus (SSS). The high incidence of haemorrhage from DAVM in the anterior fossa is related to this vascular sac. Magnetic resonance imaging (MRI) showed a flow void area in the left frontal region on T 1-weighted images in one case. These cases were treated by surgical excision of the malformation with good results. Aetiology, clinical presentation, and treatment of these rare DAVMs in the anterior cranial fossa is discussed. PMID:7847155

Ba?kaya, M K; Suzuki, Y; Seki, Y; Negoro, M; Ahmed, M; Sugita, K

1994-01-01

425

Morphological and functional aspects of progenitors perturbed in cortical malformations  

PubMed Central

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

Bizzotto, Sara; Francis, Fiona

2015-01-01

426

Cardiovascular malformations and organic solvent exposure during pregnancy in Finland  

SciTech Connect

In order to investigate the possible association between cardiovascular malformations and maternal exposure to organic solvents during the first trimester of pregnancy, 569 cases and 1,052 controls were retrospectively studied. The cases represented all infants with diagnosed cardiovascular malformations born in Finland in 1982-1984, and the controls were randomly selected from all normal births in the country during the same period. All mothers were interviewed approximately 3 months after delivery by a midwife using a structured questionnaire. Exposures to organic solvents at work during the first trimester of pregnancy were slightly more prevalent among the mothers of affected infants (10.4%) than among those of controls (7.8%). Logistic regression analysis of exposure to organic solvents showed an adjusted relative odds ratio of 1.3 (95% confidence interval, 0.8-2.2). In the analysis of ventricular septal defect, exposure to organic solvents showed an adjusted relative odds ratio of 1.5 (95% confidence interval, 1.0-3.7).

Tikkanen, J.; Heinonen, O.P.

1988-01-01

427

The surgical management and outcome of congenital mediastinal malformations  

PubMed Central

We reviewed our institutional experience with congenital mediastinal masses and compared the postnatal management and outcome of patients with or without prenatal diagnosis. Between January 1997 and August 2011, 24 patients underwent surgical procedures for congenital mediastinal mass. For eight patients, the mass was detected by prenatal ultrasonography at 27 weeks of gestation (range 22–35). Postnatal management consisted in open surgery for seven patients at a mean age of 9 months (range 1 day–20 months) and sclerotherapy for one lymphangioma at 5 months of life. Sixteen patients had postnatal diagnosis at 137 months (±194) of median age. Eight bronchogenic cysts, seven bronchopulmonary foregut malformations, five teratomas, three lymphangiomas and one haemangioma were operated on. The median age at resection was 28 months (1 day–15 years). There were four emergency procedures and no surgical mortality. The median follow-up was 45 months (3–144). The duration of mechanical ventilation and hospital stay was, respectively, 4.6 h and 7.5 days for antenatal patients and 24.3 h and 14.3 days for postnatal diagnosed patients. Prenatal diagnosis allows early management of congenital mediastinal malformations. Early resection can be performed prior to the occurrence of symptoms ?1 year of life and is associated with an excellent outcome and less morbidity. PMID:22394988

Ballouhey, Quentin; Galinier, Philippe; Abbo, Olivier; Andrieu, Guillaume; Baunin, Christiane; Sartor, Agnès; Rittié, Jean Luc; Léobon, Bertrand

2012-01-01

428

Split cord malformation associated with spinal open neural tube defect  

PubMed Central

Objective: To illustrate the clinical and radiological findings of split cord malformation (SCM) in patients with spinal open neural tube defect (SONTD), and report the outcome of their treatment. Methods: A retrospective study of the clinical and radiological findings of 11 patients diagnosed with SCM, identified among 83 patients with SONTD at King Khalid University Hospital, in Riyadh, Saudi Arabia between 1995 and 2010. Results: There were 6 girls and 5 boys; their age ranged from less than a year to 9 years (mean 4.2 years). Six patients had type I SCM, and 5 patients type II SCM. The CT and MRI imaging showed characteristic bony, cartilaginous, or fibrous septum, and other SONTD-associated anomalies. Seven patients were graded A & B according to the Frankel grading score, and none of them required surgery, while worsening neurology led to surgical intervention in 3 patients, with clinical improvement after surgery, and one patient that underwent cord untethering remained stable. Conclusion: Split cord malformation is not uncommon among patients with SONTD. It tends to involve mainly the lumbar spine, and female predominance is more remarkable in type I. Neurological manifestations of SCM may be superimposed with SONTD. Surgery is effective for symptomatic patients, and not indicated in the severely disabled. PMID:25551111

Elgamal, Essam A.; Hassan, Hamdy H.; Elwatidy, Sherif M.; Altwijri, Ikhllas; Alhabib, Amro F.; Jamjoom, Zain B.; Murshid, Waleed R.; Salih, Mustafa A.

2014-01-01

429

Segmental ulcerated perineal hemangioma of infancy: a complex case of PELVIS syndrome successfully treated using a multidisciplinary approach.  

PubMed

We report a case of PELVIS (perineal hemangioma, external genital malformations, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus and skin tag) syndrome in which hemangioma in the perineal area was misdiagnosed at birth as diaper rash. Investigations revealed associated vesicorenal and spinal abnormalities. We emphasize careful diagnosis of suspicious lesions at birth and confirm the successful use of propranolol in treating ulcerated segmental hemangiomas. PMID:23278237

Kaushik, Shivani B; Kwatra, Shawn G; McLean, Thomas W; Powers, Alexander; Atala, Anthony J; Yosipovitch, Gil

2013-01-01

430

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?  

PubMed

We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome. PMID:1376967

Stoll, C; Kieny, J R; Dott, B; Alembik, Y; Finck, S

1992-02-15

431

The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches  

Microsoft Academic Search

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations (MURCS association). The phenotypic

Daniel Guerrier; Thomas Mouchel; Laurent Pasquier; Isabelle Pellerin

2006-01-01

432

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3  

Microsoft Academic Search

Miller-Dieker syndrome (MDS) is a multiple malformation syndrome characterized by classical lissencephaly and a characteristic facies. It is associated with visible or submicroscopic deletions within chromosome band 17p13.3. Lissencephaly without facial dysmorphism has also been observed and is referred to as isolated lissencephaly sequence (ILS). Apparently partial and non-overlapping deletions of the 54 or 34 end of a candidate gene

Samuel S. Chong; Svetlana D. Pack; Anna V. Roschke; Akira Tanigami; Romeo Carrozzo; Ann C. M. Smith; William B. Dobyns; David H. Ledbetter

1997-01-01

433

A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210  

PubMed Central

Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna. PMID:24024059

Prasad, K. N. Venkateshwara; Rajha, Arvind; Vegi, Pradeep Kumar

2013-01-01

434

A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome-OMIM%164210.  

PubMed

Goldenhar syndrome is a rare developmental disorder characterised by hemifacial microsomia, epibulbar tumours, ear malformation, and vertebral anomalies. As monozygotic (MZ) twins are believed to be genetically identical, discordance for disease phenotype between MZ twins varies with craniofacial anomalies, cardiac, vertebral, and central nervous system defects sporadically. We report a case of monozygotic female twins discordant for Goldenhar syndrome with hemifacial microsomia and the dysplasia of auricular pinna. PMID:24024059

Prasad, K N Venkateshwara; Rajha, Arvind; Vegi, Pradeep Kumar

2013-01-01

435

Prediction of the hazard of foetal malformation in pregnant women with epilepsy.  

PubMed

The data collected in the Australian Register of antiepileptic drugs in pregnancy have been studied in the hope of defining simple items of information that could be recorded at initial interview of pregnant women with epilepsy, and which might allow estimation of the risk of the pregnancy resulting in a malformed foetus. Analysis of the data showed that dose of valproate, but not intake of other commonly used antiepileptic drugs, in the current pregnancy, and a past history of a pregnancy involving a malformed foetus, statistically significantly increased the malformation hazard in the current pregnancy, and that continuing alcohol intake might decrease it. Plotting the hazard against valproate dose in monotherapy, with or without histories of (i) previous pregnancies with foetal malformations (FMs), and (ii) continuing alcohol intake, provided quantitative information concerning the degree of increased risk. It is hoped that this information may help in advising about the risk of foetal malformation (FM) in individual pregnancies. PMID:24880523

Vajda, F J E; O'Brien, T J; Graham, J; Lander, C M; Eadie, M J

2014-08-01

436

Cerebral volumetric analysis over time in children with malformations of cortical development: a quantitative investigation.  

PubMed

Malformations of cortical development are common neurological disorders characterized by disruptions in the normal development of cerebral gray and white matter during fetal life. We performed a quantitative, partly longitudinal investigation of cerebral volumes in a cohort of children with cortical malformations to investigate how their anatomical abnormalities change over time. Cortical malformation subjects showed volumetric curves that were comparable with those reported for healthy individuals, and reached peak cerebral volume, gray matter volume, and white matter volume at ages similar to those reported for healthy children. Volumes of heterotopic gray matter, however, demonstrated increases that were out of proportion to changes in cortical volume or caudate nucleus volume, suggesting that misplaced gray matter can have a unique pattern of maturation. Our findings demonstrate that overall brain growth in children with cortical malformations appears to mirror that of the healthy population, although malformed regions can show distinct growth patterns. PMID:21189336

Walker, Linsey M; Poduri, Annapurna; Chang, Bernard S

2011-02-01

437

Pitt-Hopkins Syndrome  

PubMed Central

Pitt-Hopkins syndrome (PTHS, MIM #610954) is characterized by severe intellectual disability, typical facial features and tendency to epilepsy, panting-and-holding breathing anomaly, stereotypic movements, constipation, and high myopia. Growth is normal or only mildly retarded, but half of the patients have postnatal microcephaly. Remarkably, congenital malformations are practically nonexistent. The cause of PTHS is de novo haploinsufficiency of the TCF4 gene (MIM *602272) at 18q21.2. Altogether 78 PTHS patients with abnormalities of the TCF4 gene have been published since 2007 when the etiology of PTHS was revealed. In addition, 27 patients with 18q deletion encompassing the TCF4 gene but without given PTHS diagnosis have been published, and thus, the number of reported patients with a TCF4 abnormality exceeds 100. The mutational spectrum includes large chromosomal deletions encompassing the whole TCF4 gene, partial gene deletions, frameshift (including premature stop codon), nonsense, splice site, and missense mutations. So far, almost all patients have a private mutation and only 2 recurrent mutations are known. There is no evident genotype-phenotype correlation. No familial cases have been reported. Diagnosis of PTHS is based on the molecular confirmation of the characteristic clinical features. Recently, a Pitt-Hopkins-like phenotype has been assigned to autosomal recessive mutations of the CNTNAP2 gene at 7q33q36 and the NRXN1 gene at 2p16.3. PMID:22670138

Peippo, M.; Ignatius, J.

2012-01-01

438

The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research.  

PubMed

Microtia is a term used to describe a wide array of phenotypic presentations of the outer ear. Although the majority of the cases are isolated in nature, much of our understanding of the causes of microtia has been driven by the identification of genes underlying syndromic forms where the anomaly co-presents with various other craniofacial and extra-craniofacial structural defects. In this review we discuss recent findings in mice deficient in Hoxa2, a key regulator of branchial arch patterning, which has necessitated a revision to the canonical model of pinna morphogenesis. The revised model will likely impact current classification schemes for microtia and, as we argue in this review, the interpretation of the developmental basis for various auricular malformations. In addition, we highlight recent studies in other mammalian species that are providing the first clues as to possible causes of at least some isolated anomalies and thus should now accelerate the search for the more elusive genetic contributions to the many isolated and non-syndromic cases of microtia. These findings, together with the application of new genome-level sequencing technologies and more thorough quantitative assessment of available mutant mouse resources, promise an exciting future for genetic studies in microtia. PMID:24880027

Cox, Timothy C; Camci, Esra D; Vora, Siddharth; Luquetti, Daniela V; Turner, Eric E

2014-08-01

439

Serous retinal detachment and cystoid macular edema in a patient with wyburn-mason syndrome.  

PubMed

Abstract Wyburn-Mason syndrome is a rare phacomatosis characterized by unilateral arteriovenous malformations (AVMs) involving the brain, retina, and (rarely) the skin. The diagnosis is concluded with dilated fundus examination and markedly dilated tortuous vascular loops with arteriovenous communications on fluorescent angiography. We present a 14-year-old male patient with Wyburn-Mason syndrome who developed serous macular neuroretinal detachment, cystoid macular edema (CME), and consequent visual deterioration in the left eye. To the best of our knowledge, this is the first report of a patient with Wyburn-Mason syndrome who developed serous retinal detachment and CME. PMID:24171831

Onder, Halil Ibrahim; Alisan, Sibel; Tunc, Murat

2015-03-01

440

The archipelago of Fernando de Noronha: an intriguing malformed toad hotspot in South America.  

PubMed

Malformed anurans raise concern among scientists, because deformities may relate to the recent global crisis among amphibian populations, although declining populations also may be associated with other causes (e.g., diseases, over-exploitation, and land use/land cover change). We examined a sample of toads (Rhinella jimi, Bufonidae) from an introduced population in the Archipelago of Fernando de Noronha, Brazil where malformations of anurans were thought to be high. Our sample of 159 specimens from the site revealed that 44.6% of all specimens had one or more malformations. Incidence of malformed toads on the mainland sites was substantially lower: 10.5% at Itamaracá, and 3.7% at Propriá. We describe the malformations observed, including six undescribed types of malformation of anurans, and we pose possible hypotheses to explain this high incidence of malformed toads. In addition to existing hypotheses, we suggest for the first time the hypothesis that lack of predation pressures contributes to numbers of malformed toads. We indicate the need of specific studies to understand the causes of malformations in the R. jimi population of Fernando de Noronha, which is thought to be extreme foci of malformed amphibians in the world. Our results may improve local conservation action plans as this is an alien population that may be affecting endemic fauna, and may affect populations in other parts of the world, because toad species of the genus Rhinella are recognized as exceptional colonizers. More importantly, unknown variables in these toads' environment are evidently affecting toads during development, which should be a concern for all species that inhabit the area, perhaps even humans. PMID:20112047

Toledo, Luís Felipe; Ribeiro, Ricardo S

2009-09-01

441

Hind limb malformations in free-living northern leopard frogs (Rana pipiens) from Maine, Minnesota, and Vermont suggest multiple etiologies  

USGS Publications Warehouse

Background Reports of malformed frogs have increased throughout the North American continent in recent years. Most of the observed malformations have involved the hind limbs. The goal of this study was to accurately characterize the hind limb malformations in wild frogs as an important step toward understanding the possible etiologies. Methods During 1997 and 1998, 182 recently metamorphosed northern leopard frogs (Rana pipiens) were collected from Minnesota, Vermont, and Maine. Malformed hind limbs were present in 157 (86%) of these frogs, which underwent necropsy and radiographic evaluation at the National Wildlife Health Center. These malformations are described in detail and classified into four major categories: (1) no limb (amelia); (2) multiple limbs or limb elements (polymelia, polydactyly, polyphalangy); (3) reduced limb segments or elements (phocomelia, ectromelia, ectrodactyly, and brachydactyly; and (4) distally complete but malformed limb (bone rotations, bridging, skin webbing, and micromelia). Results Amelia and reduced segments and/or elements were the most common finding. Frogs with bilateral hind limb malformations were not common, and in only eight of these 22 frogs were the malformations symmetrical. Malformations of a given type tended to occur in frogs collected from the same site, but the types of malformations varied widely among all three states, and between study sites within Minnesota. Conclusions Clustering of malformation type suggests that developmental events may produce a variety of phenotypes depending on the timing, sequence, and severity of the environmental insult. Hind limb malformations in free-living frogs transcend current mechanistic explanations of tetrapod limb development.

Meteyer, C.U.; Loeffler, I.K.; Fallon, J.F.; Converse, K.A.; Green, E.; Helgen, J.C.; Kersten, S.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

2000-01-01

442

Clinical differentiation between Proteus syndrome and hemihyperplasia: description of a distinct form of hemihyperplasia.  

PubMed

Proteus syndrome is a rare and highly variable hamartomatous syndrome that can affect multiple organ systems. It is characterized by hyperplastic lesions of connective tissue, vascular malformations, linear verrucous epidermal nevi, and hyperostoses. The cause of the disorder is unknown, but the current working hypothesis is that it is caused by a mosaic alteration that leads to a highly variable phenotype, equal sex ratio, sporadic occurrence, and discordant monozygotic twins. Herein we describe our experience with 18 patients with a referring diagnosis of Proteus syndrome. It was found that imaging studies are very useful for the characterization of the syndrome. One finding was that splenic hyperplasia can be a manifestation of Proteus syndrome. Analysis of the clinical data shows that Proteus syndrome is frequently confused with "hemihyperplasia." A distinct subtype of hemihyperplasia is defined that includes static or mildly progressive hemihyperplasia and multiple lipomata. PMID:9781913

Biesecker, L G; Peters, K F; Darling, T N; Choyke, P; Hill, S; Schimke, N; Cunningham, M; Meltzer, P; Cohen, M M

1998-10-01

443

Growing Dural Sinus Malformation with Associated Developmental Venous Anomaly, Multiple Cavernomas and Facial Venous Malformation in an Infant  

PubMed Central

Summary This is an unusual case report of an infant, who initially presented with a facial haemangioma and was later diagnosed to have a dural sinus malformation (DSM) involving the torcula. The DSM increased in size lateralising to the right transverse sinus at three months of age. Postnatal enlargement of the dural sinus has not been described before suggesting a delay in the maturation of the dural sinus which normally would occur antenatally. There was a further association with a complex developmental venous anomaly (DVA) draining the right cerebral hemisphere into the deep cerebral vein and multiple cavernous malformations. The DVA was not clearly demonstrated at age one month but was more obvious at age three months. This would be the first reported case of DSM associated with a DVA. Increasing venous hypertension probably contributed to the poor opacification of the DVA on follow-up angiography at age six months and to the haemorrhagic changes within the cavernomas on magnetic resonance imaging (MRI). The therapeutic goal was to correct venous hypertension by partially embolising the dural shunts to remodel the cerebral vasculature and preserve the patent sinus. The treatment strategy and possible link between the complex disease entities presented in this infant are discussed. Despite these attemps, the lesion continued to grow compressing the posterior fossa structures. The infant died at nine months of age. PMID:20594504

Mohamed, Z.; Batista, LL.; Sachet, M.; Mahadevan, J.; Alvarez, H.; Lasjaunias, P.

2002-01-01

444

[Klippel-Feil syndrome, a rare cervicalgia].  

PubMed

Cervicalgia is defined as the presence of pain in the neck region, and can radiate to the shoulders, upper limbs or back. It is a source of frequent visits to Primary Care, and more than half of the general population will suffer neck pain at some point in their life. Klippel-Feil syndrome is an exceptional cause of cervicalgia. It belongs to the group of so-called malformations of the hold-down skull-cervical congenital disease. Klippel-Feil syndrome is a complex disease entity characterized by the fusion of two or more vertebrae, and may also be associated with other bone and visceral disorders. The characteristic clinical triad consists of short-neck, implantation below the hair in the occipital region, and limitation of cervical mobility. However, this clinical picture is present in less than 50% of these patients. PMID:24315079

Palacios Martínez, D; Díaz Alonso, R A; Gutiérrez López, M; Gordillo López, F J

2013-01-01

445

Cornelia de Lange syndrome: a case study.  

PubMed

Cornelia de Lange syndrome (CDLS) is a relatively common multiple congenital anomaly/mental retardation disorder with an unknown genetic and molecular pathogenesis. The essential features of this developmental malformation syndrome are retardation in growth, developmental delay, various structural limb abnormalities, and distinctive facial features. Most cases are sporadic and are thought to result from a new dominant mutation. Consequently, hypotheses regarding the pathogenetic mechanisms underlying the two distinct phenotypes, classic and mild, are purely speculative. The recent discovery of molecular techniques and identification of the NIPBL gene has allowed etiologic diagnosis of this disorder. In this article, we describe a patient with CDLS in whom conventional cytogenetics, fluorescence in situ hybridization, and NIPBL gene mutation analysis determined an etiologic diagnosis, providing precise genetic counseling and facilitated the family to make an evidence-based decision for conception and also alleviated the extreme degree of anxiety associated with the thought of having a second child in this set of circumstances. PMID:19309268

Kalal, Goud Iravathy; Raina, Vimarsh P; Nayak, Veerabhadra S; Teotia, Pooja; Gupta, Bhushan V

2009-02-01

446

A familial syndromal form of omphalocele.  

PubMed

Omphalocele is a relatively common developmental anomaly of the abdominal wall. Isolated omphalocele is generally regarded as a sporadic malformation with a negligible recurrence risk, although rare familial occurrences have been reported, compatible with AD, AR and XLR inheritance. Omphaloceles occurring in a syndromal context are strongly correlated with various types of chromosomal anomalies. Few monogenic syndromes have a high frequency of omphalocele. We report a family with facial dysmorphism somewhat reminiscent of Robinow syndrome (flat face, very short, upturned nose, very long and unusually wide philtrum, and flattened maxillary arch), observed in 3 generations. Four sibs in the second generations had large omphaloceles. One child had ectrodactyly. Genomic rearrangements, and WNT5A or ROR2 mutations were excluded in this family. At this point, we feel reasonable to consider this family as expressing a "new" syndrome related but different from Robinow syndrome, associating facial dysmorphism and abdominal wall defect, and compatible with dominant inheritance with variable expressivity, although recessively inherited omphalocele occurring in a family showing independently some dominant craniofacial peculiarities cannot be ruled out. PMID:21333766

Port-Lis, Marylin; Leroy, Camille; Manouvrier, Sylvie; Escande, Fabienne; Passemard, Sandrine; Perrin, Laurence; Capri, Yline; Gérard, Bénédicte; Verloes, Alain

2011-01-01

447

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity.  

PubMed

Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebellar hemispheres. Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations. Gómez-López-Hernández syndrome combines rhombencephalosynapsis with parietal/temporal alopecia and sometimes trigeminal anaesthesia, towering skull shape and dysmorphic features. Rhombencephalosynapsis can also be seen in patients with features of vertebral anomalies, anal atresia, cardiovascular anomalies, trachea-oesophageal fistula, renal anomalies, limb defects (VACTERL) association. Based on a comprehensive evaluation of neuroimaging findings in 42 patients with rhombencephalosynapsis, we propose a spectrum of severity, ranging from mild (the partial absence of nodulus, anterior and posterior vermis), to moderate (the absence of posterior vermis with some anterior vermis and nodulus present), to severe (the absence of posterior and anterior vermis with some nodulus present), to complete (the absence of the entire vermis including nodulus). We demonstrate that the severity of rhombencephalosynapsis correlates with fusion of the tonsils, as well as midbrain abnormalities including aqueductal stenosis and midline fusion of the tectum. Rhombencephalosynapsis is also associated with multiple forebrain abnormalities including absent olfactory bulbs, dysgenesis of the corpus callosum, absent septum pellucidum and, in rare patients, atypical forms of holoprosencephaly. The frequent association between rhombencephalosynapsis and aqueductal stenosis prompted us to evaluate brain magnetic resonance images in other patients with aqueductal stenosis at our institution, and remarkably, we identified rhombencephalosynapsis in 9%. Strikingly, subjects with more severe rhombencephalosynapsis have more severely abnormal neurodevelopmental outcome, as do subjects with holoprosencephaly and patients with VACTERL features. In summary, our data provide improved diagnostic and prognostic information, and support disruption of dorsal-ventral patterning as a mechanism underlying rhombencephalosynapsis. PMID:22451504

Ishak, Gisele E; Dempsey, Jennifer C; Shaw, Dennis W W; Tully, Hannah; Adam, Margaret P; Sanchez-Lara, Pedro A; Glass, Ian; Rue, Tessa C; Millen, Kathleen J; Dobyns, William B; Doherty, Dan

2012-05-01

448

Rhombencephalosynapsis: a hindbrain malformation associated with incomplete separation of midbrain and forebrain, hydrocephalus and a broad spectrum of severity  

PubMed Central

Rhombencephalosynapsis is a midline brain malformation characterized by missing cerebellar vermis with apparent fusion of the cerebellar hemispheres. Rhombencephalosynapsis can be seen in isolation or together with other central nervous system and extra-central nervous system malformations. Gómez-López-Hernández syndrome combines rhombencephalosynapsis with parietal/temporal alopecia and sometimes trigeminal anaesthesia, towering skull shape and dysmorphic features. Rhombencephalosynapsis can also be seen in patients with features of vertebral anomalies, anal atresia, cardiovascular anomalies, trachea–oesophageal fistula, renal anomalies, limb defects (VACTERL) association. Based on a comprehensive evaluation of neuroimaging findings in 42 patients with rhombencephalosynapsis, we propose a spectrum of severity, ranging from mild (the partial absence of nodulus, anterior and posterior vermis), to moderate (the absence of posterior vermis with some anterior vermis and nodulus present), to severe (the absence of posterior and anterior vermis with some nodulus present), to complete (the absence of the entire vermis including nodulus). We demonstrate that the severity of rhombencephalosynapsis correlates with fusion of the tonsils, as well as midbrain abnormalities including aqueductal stenosis and midline fusion of the tectum. Rhombencephalosynapsis is also associated with multiple forebrain abnormalities including absent olfactory bulbs, dysgenesis of the corpus callosum, absent septum pellucidum and, in rare patients, atypical forms of holoprosencephaly. The frequent association between rhombencephalosynapsis and aqueductal stenosis prompted us to evaluate brain magnetic resonance images in other patients with aqueductal stenosis at our institution, and remarkably, we identified rhombencephalosynapsis in 9%. Strikingly, subjects with more severe rhombencephalosynapsis have more severely abnormal neurodevelopmental outcome, as do subjects with holoprosencephaly and patients with VACTERL features. In summary, our data provide improved diagnostic and prognostic information, and support disruption of dorsal–ventral patterning as a mechanism underlying rhombencephalosynapsis. PMID:22451504

Dempsey, Jennifer C.; Shaw, Dennis W. W.; Tully, Hannah; Adam, Margaret P.; Sanchez-Lara, Pedro A.; Glass, Ian; Rue, Tessa C.; Millen, Kathleen J.; Dobyns, William B.; Doherty, Dan

2012-01-01

449

Quantitative Trait Loci (QTL) Study Identifies Novel Genomic Regions Associated to Chiari-Like Malformation in Griffon Bruxellois Dogs  

PubMed Central

Chiari-like malformation (CM) is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB) breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF) flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL) approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls). Linear and mixed regression analyses identified associated single nucleotide polymorphisms (SNPs) on 5 Canis Familiaris Autosomes (CFAs): CFA2, CFA9, CFA12, CFA14 and CFA24. A reconstructed haplotype of 0.53 Mb on CFA2 strongly associated to the height of the cranial fossa (diameter F) and an haplotype of 2.5 Mb on CFA14 associated to both the height of the rostral part of the caudal cranial fossa (AE) and the height of the brain (FG) were significantly associated to CM after 10 000 permutations strengthening their candidacy for this disease (P?=?0.0421, P?=?0.0094 respectively). The CFA2 QTL harbours the Sall-1 gene which is an excellent candidate since its orthologue in humans is mutated in Townes-Brocks syndrome which has previously been associated to Chiari malformation I. Our study demonstrates the implication of multiple traits in the etiology of CM and has successfully identified two new QTL associated to CM and a potential candidate gene. PMID:24740420

Lemay, Philippe; Knowler, Susan P.; Bouasker, Samir; Nédélec, Yohann; Platt, Simon; Freeman, Courtenay; Child, Georgina; Barreiro, Luis B.; Rouleau, Guy A.; Rusbridge, Clare; Kibar, Zoha

2014-01-01

450

AKT hyper-phosphorylation associated with PI3K mutations in lymphatic endothelial cells from a patient with lymphatic malformation.  

PubMed

Lymphatic malformations (LM) are characterized by abnormal formation of lymphatic vessels and tissue overgrowth. The lymphatic vessels present in LM lesions may become blo