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1

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

PubMed Central

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

2009-01-01

2

Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.  

PubMed

Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genome-wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria. PMID:21077203

Martínez-Glez, Víctor; Romanelli, Valeria; Mori, María A; Gracia, Ricardo; Segovia, Mabel; González-Meneses, Antonio; López-Gutierrez, Juan C; Gean, Esther; Martorell, Loreto; Lapunzina, Pablo

2010-12-01

3

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

4

Syndromes associated with vascular tumors and malformations: a pictorial review.  

PubMed

Use of the International Society for the Study of Vascular Anomalies (ISSVA) classification system has been strongly recommended in recent years because of the need for separate therapeutic measures for patients with vascular tumors and malformations. In the ISSVA classification system, vascular tumors, which are neoplastic, are distinguished from vascular malformations, which are caused by vascular structural anomalies and are not neoplastic, on the basis of the presence or absence of neoplastic proliferation of vascular endothelial cells. It is important that radiologists be familiar with the development, diagnosis, and treatment of vascular tumors and malformations, especially the imaging features of low- and high-flow vascular malformations. Some vascular tumors and malformations develop in isolation, whereas others develop within the phenotype of a syndrome. Syndromes that are associated with vascular tumors include PHACE syndrome. Syndromes that are associated with vascular malformations include Sturge-Weber, Klippel-Trénaunay, Proteus, blue rubber bleb nevus, Maffucci, and Gorham-Stout syndromes, all of which demonstrate low flow, and Rendu-Osler-Weber, Cobb, Wyburn-Mason, and Parkes Weber syndromes, all of which demonstrate high flow. Because imaging findings may help identify such syndromes as systemic, it is important that radiologists familiarize themselves with these conditions. PMID:23322836

Nozaki, Taiki; Nosaka, Shunsuke; Miyazaki, Osamu; Makidono, Akari; Yamamoto, Asako; Niwa, Tetsu; Tsutsumi, Yoshiyuki; Aida, Noriko; Masaki, Hidekazu; Saida, Yukihisa

2013-01-01

5

Genetics Home Reference: Megalencephaly-capillary malformation syndrome  

MedlinePLUS

... Registry: Megalencephaly cutis marmorata telangiectatica congenita M-CM Network: How is M-CM Diagnosed? You might also find information on the diagnosis or management of megalencephaly-capillary malformation syndrome in Educational resources ...

6

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

7

Malformation syndromes associated with disorders of sex development.  

PubMed

When embryological development of the internal and/or external genitalia is disrupted, the patient presents with a disorder of sex development (DSD) in the neonatal period or sometime later in life. Some of these patients have other, nongenital malformations, which makes their overall management more complex than if they just had a DSD. This Review summarises these malformation syndromes and discusses the recent research into their aetiology. The genetic causes of these malformation syndromes, when they are known, will also be described. Many specific genetic mutations are now known in malformation syndromes with a defect in hormonal function. By contrast, the genetic causes remain unknown in many nonhormonal morphological anomalies that affect the genitalia. PMID:24913517

Hutson, John M; Grover, Sonia R; O'Connell, Michele; Pennell, Samuel D

2014-08-01

8

Venous thoracic outlet syndrome caused by a congenital rib malformation  

PubMed Central

Summary Venous thoracic outlet syndrome (VTOS) represents a rare disorder. Hypertrophy of the anterior scalene musculature is the cause of the compression syndrome in most cases. To our knowledge, we describe the first reported case worldwide of a venous compression syndrome caused by a congenital malformation of the 1st and 2nd ribs. Treatment by transaxillary partial rib resection was necessary and a very good postoperative result was achieved. PMID:22544354

Kirschbaum, Andreas; Palade, Emanuel; Csatari, Zoltan; Passlick, Bernward

2012-01-01

9

Chiari I malformation, caudal regression syndrome, and Pierre Robin Syndrome: a previously unreported combination  

Microsoft Academic Search

Case   The authors report a child born with a constellation of findings including Chiari I malformation, Pierre Robin syndrome, and caudal regression syndrome. In addition, this child was found to have a fatty-infiltrated filum terminale and a low conus medullaris.Discussion and conclusion  In isolation, the Chiari I malformation has been reported in patients with caudal regression and Pierre Robin syndrome. Speculation

R. Shane Tubbs; W. Jerry Oakes

2006-01-01

10

A syndrome including thumb malformations, microcephaly, short stature, and hypogonadism  

Microsoft Academic Search

We report on eight patients from seven different families affected with a syndrome which includes thumb defects, short stature, microcephaly, and mental retardation. Most of the patients had additional malformations, in particular amenorrhoea and azoospermia in the adults. There were no haematological manifestations and the chromosomes were normal without evidence of breakage even after stimulation. In five of the cases

J Zlotogora; J Dagan; A Ganen; M Abu-Libdeh; Z Ben-Neriah; T Cohen

1997-01-01

11

Malformations and the Manx Syndrome in Cats  

PubMed Central

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

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

1979-01-01

12

[Chiari type I malformation in a patient with Poland's syndrome].  

PubMed

Chiari malformation type I and Poland's syndrome are two rare diseases and their simultaneous presentation had not been previously described in the literature. We report the case of a 27 year old male with history of Poland's syndrome, who referred headache and motor impairment of the intrinsic muscles of the left hand. In a cervical spine MR a Chiari I malformation with syringomyelia from C1 to T2 was found, which was treated by foramen magnum decompression, dural plasty and removal of the posterior arch of the atlas. A discussion of the embryological mechanisms that might be involved in the coexistence of these two entities is presented, emphasizing the role of para-axial mesoderm. PMID:22167290

Apellido, Nombre; Alcalá-Cerra, G; Sabogal-Barrios, R; Niño-Hernández, L M; Gutiérrez-Paternina, J J; Moscote-Salazar, L R; Preciado-Mesa, E

2011-12-01

13

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

14

Clinical Features: Goldberg-Shprintzen megacolon syndrome (GOSHS, OMIM #609460) is a multiple malformation disorder  

E-print Network

malformation disorder characterized by Hirschsprung megacolon, microcephaly, hypertelorism, submucous cleft:185-189. 2. Hurst, JA., et al. Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma

Ober, Carole

15

Clinical Features Microcephaly-Capillary Malformation syndrome [MICCAP, OMIM#614261] is characterized by severe progressive  

E-print Network

4/13 Clinical Features Microcephaly-Capillary Malformation syndrome [MICCAP, OMIM#614261] is characterized by severe progressive microcephaly, early-onset refractory epilepsy, profound developmental delay Analysis for Microcephaly-Capillary Malformation Syndrome #12;4/13 References: 1. Carter MT, Geraghty MT

Das, Soma

16

Cervical spine malformation in cornelia de lange syndrome: a report of three patients.  

PubMed

Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an unusual malformation in the CdLS phenotypic spectrum. PMID:24668777

Bettini, Laura Rachele; Locatelli, Laura; Mariani, Milena; Cianci, Paola; Giussani, Carlo; Canonico, Francesco; Cereda, Anna; Russo, Silvia; Gervasini, Cristina; Biondi, Andrea; Selicorni, Angelo

2014-06-01

17

A cloverleaf skull syndrome probably of Beare-Stevenson type associated with Chiari malformation  

Microsoft Academic Search

A case of cloverleaf skull (CLS) syndrome with Chiari malformation was reported. The patient developed congenital hydrocephalus, upper airway obstruction and breath holding spells. Ventriculo-peritoneal shunt improved the hydrocephalus, but the patient progressively developed apneic episodes in spite of intubation. Brain magnetic resonance imaging (MRI) disclosed severe Chiari malformation. Laminectomy of the cervical vertebrae and craniectomy at the occipital bone

Shuichi Ito; Kiyoshi Matsui; Etsuro Ohsaki; Akiko Goto; Kimiyo Takagi; Mitsuhiko Koresawa; Susumu Ito; Kenichi Sekido; Masami Suzuki; Katsuyuki Torikai; Noriko Aida

1996-01-01

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

[Management of gastrointestinal malformations in children with asplenia syndrome].  

PubMed

Asplenia syndrome (AS) is a complex disorder that includes a variety of cardiovascular and gastrointestinal malformations (GMs), and its prognosis remains poor. We treated 40 AS patients between 2000 and 2010, 10 of whom underwent surgery to correct GMs. These comprised 7 hiatus hernias (HH), 1 intestinal malrotation (IM), 1 stomach volvulus, and 1 ompalocele. In this review, we consider the optimal surgical timing and methods of management, especially for HH and IM. Surgery was performed in 6 of 7 HH patients. Four of those underwent laparotomy, 1 thoracotomy, and 1 laparoscopy. The Toupet method or fixation of the His angle or hiatus closure was selected in each case. Because the stomach intruding into the mediastinum may cause pulmonary venous obstruction and respiratory impairment, surgical repair is preferably performed prior to Glenn surgery. Among the 9 IMs, 8 were nonrotational and required no treatment, and only 1 required surgical treatment. GMs in AS are difficult to manage because of the unique anatomy, meaning there are no fixed surgical techniques. Each patient must be carefully examined preoperatively, and the optimum surgical method selected. Close collaboration with cardiovascular surgeons is vital when determining the timing and method of surgery. PMID:21819015

Mitsunaga, Maki; Urushihara, Naoto; Fujimoto, Yoshifumi; Sakamoto, Kisaburo

2011-07-01

20

Nursery care of the newborn with malformation syndrome  

Microsoft Academic Search

Congenital malformations are not so rare, and represent a relevant challenge to health care providers. We delineate a methodology for the clinical approach to the malformed newborn, that takes into account the needs of the patient as single person and as part of a familiar and social context. We consider first the medical problem that the neonatologists face in the

Francesca Romana Pluchinotta; Luigi Memo

2009-01-01

21

Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome  

Microsoft Academic Search

The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echocardiography including Doppler were performed.

C O Gøtzsche; B Krag-Olsen; J Nielsen; K E Sørensen; B O Kristensen

1994-01-01

22

The Chiari Pseudotumor Cerebri Syndrome: Symptom Recurrence after Decompressive Surgery for Chiari Malformation Type I  

Microsoft Academic Search

Introduction: The etiology of Chiari malformation type I (CM1) as well as other anomalies associated with CM1 remains poorly defined. We have noted the presence of elevated CSF pressures with small ventricles, consistent with the pseudotumor cerebri (PTC) syndrome in a group of CM1 patients that did not respond over the long term to posterior fossa decompression. In order to

Lisa H. Fagan; Sherise Ferguson; Reza Yassari; David M. Frim

2006-01-01

23

Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome.  

PubMed

The combination of Dandy-Walker malformation, other central nervous system anomalies, and postaxial polydactyly has been reported previously in two pairs of siblings. We propose the name 'Pierquin syndrome' for this combination and we report a new patient with this disorder. PMID:23324646

Passalacqua, Cristóbal A; Villegas, Victor P; Aracena, Mariana I; Mellado, Cecilia X

2013-04-01

24

Corpus callosum hematoma secondary to cerebral venous malformation presenting as alien hand syndrome.  

PubMed

A 26-year-old right-handed female presented with alien hand syndrome (AHS) secondary to corpus callosum (CC) hematoma. The patient had abnormal feelings in the left upper limb and exhibited intermanual conflict. Imaging studies demonstrated acute hemorrhage in the genu and body of the CC secondary to cerebral venous malformation. Callosal hemorrhage is usually caused by head trauma or a ruptured arteriovenous that extends beyond the CC. We report what may be the first case of AHS caused by callosal hemorrhage due to venous malformation. PMID:22784383

Huang, Ying; Jia, Jianping

2013-08-01

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

Gowers' intrasyringeal hemorrhage associated with Chiari type I malformation in Noonan syndrome  

PubMed Central

Background: Idiopathic hemorrhage in a syrinx is a rare entity known as Gowers’ intrasyringeal hemorrhage. Bleeding confined to the syrinx cavity causes severe, sometimes acute, neurological deficits. We report a case of intrasyringeal hemorrhage into a preexisting lumbosacral syrinx associated with Chiari type I malformation. Case Description: A 39-year-old female with Noonan syndrome underwent foramen magnum decompression and a cervical syrinx-subarachnoid shunt for Chiari type I malformation-associated syringomyelia 7 years ago. She presented progressive gait deterioration and acute urinary dysfunction, indicating conus medullaris syndrome. Initial magnetic resonance imaging revealed massive hemorrhage in the intrasyringeal cavity of the conus medullaris. The patient underwent surgical removal of the intrasyringeal hematoma and her neurological symptoms improved postoperatively. Conclusion: Although Gowers’ intrasyringeal hemorrhage is rare, this entity should be taken into consideration in patients with syringomyelia showing acute neurological deterioration. PMID:24575321

Mitsuhara, Takafumi; Yamaguchi, Satoshi; Takeda, Masaaki; Kurisu, Kaoru

2014-01-01

27

Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome.  

PubMed

We report on clinical and molecular findings of two brothers that both presented with sagittal craniosynostosis, hydrocephalus, Chiari I malformation, blepharophimosis, small low-set ears, hypoplastic philtrum, radioulnar synostosis, kidney malformation, and hypogenitalism. Their father presented mild brachydactyly. Conventional cytogenetic and array CGH screening did not show any chromosomal gains or losses. Furthermore, molecular genetic screening of genes involved in different craniosynostosis syndromes, namely FGFR1, FGFR2, FGFR3, TWIST, RECQL4, and POR genes failed to detect any mutations in genomic DNA. The unique range of clinical manifestations in these two patients and the negative findings of the molecular genetic screening suggest the hypothesis of a previously unrecognized syndrome. PMID:19022412

Capra, Valeria; De Marco, Patrizia; Merello, Elisa; Baffico, Ave Maria; Baldi, Maurizia; Divizia, Maria Teresa; Gimelli, Stefania; Mallet, Delphine; Raso, Alessandro; Mascelli, Samantha; Tomà, Paolo; Rossi, Andrea; Pavanello, Marco; Cama, Armando; Magnani, Cinzia

2009-01-01

28

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

PubMed Central

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

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

2013-01-01

29

The Ehlers-Danlos syndrome, type IV, with an unusual combination of organ malformations  

Microsoft Academic Search

A patient having type IV Ehlers-Danlos syndrome is described because of an uncommon combination of malformations. He had multiple\\u000a aneurysms, a hepatic artery-to-portal vein fistula, and diverticula of the biliary passages, the sigmoid colon, and bladder.\\u000a He also suffered from scoliosis and dilatation of inner and outer cerebral spinal fluid containing spaces.

Thomas Kahn; Maximilian Reiser; Josef Gmeinwieser; Andreas Heuck

1988-01-01

30

Cleft lip and palate, pili torti, malformed ears, partial syndactyly of fingers and toes, and mental retardation: a new syndrome?  

Microsoft Academic Search

Two sibs with a syndrome including cleft lip and palate, sparse scalp hair, malformed protruding ears, and partial syndactyly of the fingers and toes are reported. The older child also has mental retardation and pili torti. This syndrome is most probably inherited as an autosomal recessive disorder.

J Zlotogora; Y Zilberman; A Tenenbaum; M R Wexler

1987-01-01

31

Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy.  

PubMed

Williams-Beuren syndrome (WBS) is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. We report a severely affected WBS patient with cerebral and cerebellar dysplasia as well as hypertrophic cardiomyopathy. Microarray comparative genomic hybridization (aCGH) detected a deletion on 7q11.23 expanding from RP11-614D7 to RP11-137E8, which is a typical deletion in WBS. To the best of our knowledge, this is the first case report of a WBS patient with severe congenital central nervous system anomaly and progressive hypertrophic cardiomyopathy. The relationship between the genes deleted in WBS and a CNS anomaly plus hypertrophic cardiomyopathy requires further analysis. PMID:23899771

Okamoto, Noriko; Yamagata, Takanori; Yada, Yukari; Ichihashi, Ko; Matsumoto, Naomichi; Momoi, Mariko Y; Mizuguchi, Takeshi

2014-06-01

32

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

33

Facial phenotype at different ages and cardiovascular malformations in children with Williams-Beuren syndrome: a study from India.  

PubMed

Williams-Beuren syndrome (WBS) is one of the microdeletion syndromes associated with distinct facial features, characteristic behavior phenotype (overfriendly behavior), congenital heart disease, and other malformations. Clinical features in WBS are age dependent. It is important to be aware of variable age dependent phenotype, especially facial phenotype due to its crucial role in diagnosis. Here we describe the facial phenotype of WBS at different ages (3 months to 15.1 years) and congenital heart malformations in 27 patients FISH positive for 7q11.23 microdeletion. PMID:22628065

Patil, Siddaramappa J; Madhusudhan, B G; Shah, Sejal; Suresh, P V

2012-07-01

34

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

PubMed Central

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

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

2013-01-01

35

Amelioration of Chiari type 1 malformation and syringomyelia following posterior calvarial distraction in Crouzon's syndrome--a case report.  

PubMed

Multisutural craniosynostosis as seen in Crouzon's syndrome can result in raised intracranial pressure, Chiari malformation (CM) and syringomyelia. Posterior calvarial distraction (PD) is a technique for addressing cranio-cephalic disproportion, and this case report describes the reversal of both CM and syrinx in a 6-year-old child who underwent PD initially for raise intracranial pressure. PMID:23780407

Ahmad, Fateh; Evans, Martin; White, Nicholas; Nishikawa, Hiroshi; Dover, Stephen; Solanki, Guirish; Rodrigues, Desiderio

2014-01-01

36

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome  

PubMed Central

Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (CMS). Although not always reported in the literature, frontal polymicrogyria and gray matter heterotopia are uniformly present, whereas cerebellar dysplasia, ventriculomegaly, and arachnoid cysts are nearly invariant. Despite these striking brain malformations, individuals with CMS generally do not present with significant neurodevelopmental abnormalities, except for hearing loss. Homozygosity mapping and whole-exome sequencing of DNA from affected individuals in eight families (including the family in the first report of CMS) revealed four molecular variations (two single-base deletions, a nonsense mutation, and a canonical splice-site mutation) in the G protein-signaling modulator 2 gene, GPSM2, that underlie CMS. Mutations in GPSM2 have been previously identified in people with profound congenital nonsyndromic hearing loss (NSHL). Subsequent brain imaging of these individuals revealed frontal polymicrogyria, abnormal corpus callosum, and gray matter heterotopia, consistent with a CMS diagnosis, but no ventriculomegaly. The gene product, GPSM2, is required for orienting the mitotic spindle during cell division in multiple tissues, suggesting that the sensorineural hearing loss and characteristic brain malformations of CMS are due to defects in asymmetric cell divisions during development. PMID:22578326

Doherty, Dan; Chudley, Albert E.; Coghlan, Gail; Ishak, Gisele E.; Innes, A. Micheil; Lemire, Edmond G.; Rogers, R. Curtis; Mhanni, Aizeddin A.; Phelps, Ian G.; Jones, Steven J.M.; Zhan, Shing H.; Fejes, Anthony P.; Shahin, Hashem; Kanaan, Moien; Akay, Hatice; Tekin, Mustafa; Triggs-Raine, Barbara; Zelinski, Teresa

2012-01-01

37

The neurophysiological balance in Chiari type 1 malformation (CM1), tethered cord and related syndromes.  

PubMed

The Chiari malformation (CM) is a syndrome embodied in heterogeneous groups of malformations, spanning from the more benign and known, the CM1, to more complex syndromes such as the rare association with the tethered cord, as spinal lipomas, and the CM2, associated to open spina bifida. The clinical picture may be well expressed and detected at birth or even during intrauterine life, as for CM2, but in the other cases they may run a rather subtle clinical course. The diagnosis of these syndromes is driven by clinical examination and MRI, and it usually requires a multidisciplinary approach in order to plan the therapeutic strategies, such as surgery. Among the diagnostic investigations, the imaging techniques represent the most useful, for their capabilities to detect subclinical lesions, such as syringomyielia and lipoma; the urological investigation is useful to evaluate the urogenital dysfunctions. The neurophysiological investigations represent a non invasive diagnostic procedure to investigate the peripheral nerve, the spinal cord, the brainstem functionalities and more higher brain functions; the nerve conduction studies and the cranial reflexes, the brainstem (BAEP) and the somatosensory (SEPs) evoked potentials (EPs), alone or in combination, can be used for the diagnosis, follow-up and intraoperative monitoring. The most useful diagnostic tools in CM1 are likely represented by the brainstem auditory evoked potentials (BAEPs) and the blink-reflex (BR), while the usefulness of SEPs is still doubtful and debated; in CM2 and tethered cord the neurophysiological techniques can be combined in different ways in order to make a functional balance and to answer specific questions. BAEPs and BR can be useful to investigate the brain stem functionality and SEP to evaluate whether the ascending sensory pathway to the cortex can be hampered at some level; the visual EPs are particularly useful to evaluate the integrity of posterior visual pathway and visual cortex in the case of associated hydrocephalus. In the tethered cord, both nerve conduction study and somatosensory evoked potentials (SEPs) are useful to evaluate motor and sensory dysfunction of the lombosacral roots and nerves and spinal cord for their capability to detect subclinical impairment of conduction along the sensory and motor pathway. Finally, last but not the least, the neurophysiological techniques are remarkably useful during surgery; the intraoperative monitoring (IOM) by means of electromyography and direct nerve stimulation and recordings are able to detect early nerve damage, minimize nerve lesions and optimise the surgical techniques. In the operated children with incomplete removal of lipoma and/or persistent tethering, the recordings of SEP and BAEP are useful to demonstrate a conduction deterioration along the ascending sensory pathway due to increasing tethering of the spinal cord due to somatic growth. PMID:22012627

Vidmer, Scaioli; Sergio, Curzi; Veronica, Saletti; Flavia, Tripaldi; Silvia, Esposito; Sara, Bulgheroni; Valentini, Laura Grazia; Daria, Riva; Solero, Carlo Lazzaro

2011-12-01

38

Intracranial hypotension syndrome in a patient due to suboccipital craniectomy secondary to Chiari type malformation.  

PubMed

Intracranial hypotension syndrome (IHS) is a rare disorder characterized by a decrease in cerebrospinal fluid pressure to less than 60 mm H2O. The syndrome is associated with occipital headache radiating to the frontal and temporal zones. The current clinical case describes the manifestation of IHS in a twenty-five year old female with a history of suboccipital craniectomy due to Chiari I malformation nine years earlier. The patient was admitted to the hospital complaining about postural, mainly occipital, headache during the last three months, aggravated by being in an upright position. The magnetic resonance imaging (MRI) revealed engorgement of the dural venous sinuses, significant enlargement of the pituitary gland and download displacement or sagging of the brain with effacement of the perichiasmatic cisterns and the prepontine cistern, while the spinal T2W MRI revealed a 7 mm × 2.5 mm dural defect with an extradural cerebrospinal fluid collection at the dorsal soft tissues of the cervical spine. The previous imaging did not reveal subdural effusions. PMID:24364025

Dora, Barkoula; Nikolaos, Bontozoglou; Stylianos, Gatzonis; Damianos, Sakas

2013-12-16

39

Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis.  

PubMed

There seems to be an association between type 1 Chiari malformation (CM) and some congenital craniosynostosis syndromes. Type 2 Pfeiffer syndrome is a condition associated with premature fusion of multiple cranial sutures, cloverleaf skull (kleeblatschädel deformity), prominent ptosis, thumb and first toe abnormalities, variable syndactyly, and mutated genes for type 1 or 2 fibroblast growth factor receptor. These children generally do poorly because of significant often severe neurologic and cognitive defects, and many die very young. Roughly half of all patients with Pfeiffer syndrome, and virtually all with type 2 disease, also have type 1 CM. Chiari malformation may not be congenital but acquired as a consequence of the skull deformities and other associated intracranial factors in patients with craniosynostosis. We report a term male infant with type 2 Pfeiffer syndrome, who was not noted to have any CM on initial brain imaging done at 2 months but in whom repeated imaging demonstrated clear evidence of CM by 4 months, despite reconstructive craniotomies and unilateral ventriculoperitoneal shunt insertion. Posterior fossa decompression yielded a good result. This patient provides further evidence to support the concept of acquired tonsillar herniation in patients with craniosynostosis syndromes. The etiology seems multifactorial and related to (1) the disproportionately slow growth of the skull relative to the brain, particularly in the posterior fossa, secondary to early fusion of skull sutures, in turn secondary to congenital deficiencies in fibroblast growth factor receptors; (2) impaired venous sinus drainage; (3) hydrocephalus; and (4) resultant elevations in intracranial pressure. PMID:20186072

Ranger, Adrianna; Al-Hayek, Ali; Matic, Damir

2010-03-01

40

Atypical cerebellar slump syndrome and external hydrocephalus following craniocervical decompression for Chiari I malformation: case report.  

PubMed

Symptomatic cerebellar slump (CS) and external hydrocephalus (EH) are amongst the rarer complications of foramen magnum decompression (FMD) for Chiari I malformation (CM). CS typically presents with delayed onset headache related to dural traction or with neurological deficit offsetting the benefit of FMD. EH, consisting of ventriculomegaly along with subdural fluid collection(s) (SFCs), has been related to cerebrospinal fluid egress from a tiny breach in an otherwise intact arachnoid. We describe the case of a 21-year-old man with CM and syringomyelia who presented with impaired gag, spastic quadriparesis, and raised intracranial pressure 1 week following an uneventful FMD during which the arachnoid had been widely fenestrated. Magnetic resonance imaging (MRI) showed an infratentorial SFC, dilated aqueduct and triventriculomegaly, features of CS, and a residual but resolving syrinx. His symptoms resolved following a high pressure ventriculo-peritoneal shunt. At a 6-month follow-up visit, he was asymptomatic and demonstrated partial resolution of the syrinx, with no recurrence of the SFC. The unusual features in the clinical course of this patient were an atypical CS syndrome presenting with concomitantly resolving syringomyelia, and the development of EH after a wide arachnoidal fenestration. This is the first case in indexed literature describing such a combination of unusual postoperative complications of a FMD. A hypothesis is presented to explain the clinico-radiological findings of the case. PMID:24257499

Thakar, Sumit; Dadlani, Ravi; Tawari, Manish; Hegde, Alangar S

2014-01-01

41

A case of paradoxical worsening of dural-sinus arteriovenous malformation syndrome after neurosurgery.  

PubMed

The authors present a case of a patient with the syndrome of paradoxical worsening of dural-sinus cavernous arteriovenous malformation which was a iatrogenic consequence of embolization of the basal branches of a dural shunt with Yvalon. It is presumed that the thrombogenous Yvalon reached the basal branches of the medial meningeal artery to the superior ophthalmic vein, where it caused complete thrombosis. The impaired ocular and orbital venous outflow caused a dramatic worsening of the ocular congestive symptoms: venous stasis retinopathy with dilated veins, flame-and dot-shaped hemorrhages and a secondary increase in intraocular pressure. The diagnosis of thrombosis of the entire superior ophthalmic vein was confirmed by color Doppler imaging. The mechanism is discussed. Although the ocular pathology is usually self-limiting following the establishment of collateral venous outflow channels, in view of the patient's serious congestive ocular symptoms argon laser photocoagulation and conservative antiglaucomatous local therapy were applied. Once orbital collateral venous drainage was established, the ocular symptoms improved. In the one-year follow-up there was no other complication. PMID:8963165

Nagy, Z Z; Németh, J; Süveges, I; Lányi, F

1995-01-01

42

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.  

PubMed

Split-hand/foot malformation (SHFM), or ectrodactyly, is characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM occurs as both an isolated finding and a component of many syndromes. SHFM is a heterogeneous condition caused by multiple loci, including SHFM1 (chromosome region 7q21-q22), SHFM2 (Xq26), SHFM3 (10q24), SHFM4 (3q27), and SHFM5 (2q31). Mutations in TP63 at the SHFM4 locus are known to underlie both syndromic and non-syndromic forms SHFM, but the causes of most non-syndromic SHFM cases remain unknown. The recent identification of submicroscopic tandem chromosome duplications affecting the SHFM3 locus in seven families with non-syndromic SHFM has helped to further unravel the molecular basis of this malformation. In our ongoing studies of the SHFM3 locus in 44 additional cases of syndromic and non-syndromic SHFM, we have identified similar chromosome rearrangements in eight additional cases (18%), using pulsed-field gel electrophoresis (PFGE). We have also utilized real-time quantitative PCR (qPCR) to test for the duplications. Seven of the cases with rearrangements were non-syndromic. The current findings bring the total of SHFM3-associated cases with chromosome rearrangements to 15, which constitute 29% (15 of 51) of the cases screened to date. This includes 9 of 9 cases (100%) with known linkage to the SHFM3 locus, all of whom have non-syndromic SHFM, and 6 of 42 additional cases (14%), four of whom have non-syndromic SHFM. Thus, SHFM3 abnormalities underlie a substantial proportion of SHFM cases and appear to be a more frequent cause of non-syndromic SHFM than mutations in TP63. PMID:16761290

Everman, David B; Morgan, Chad T; Lyle, Robert; Laughridge, Mary E; Bamshad, Michael J; Clarkson, Katie B; Colby, Randall; Gurrieri, Fiorella; Innes, A Micheil; Roberson, Jacquelyn; Schrander-Stumpel, Connie; van Bokhoven, Hans; Antonarakis, Stylianos E; Schwartz, Charles E

2006-07-01

43

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.  

PubMed

Several brain malformations have been described in rare patients with the deletion 22q11.2 syndrome (DEL22q11) including agenesis of the corpus callosum, pachygyria or polymicrogyria (PMG), cerebellar anomalies and meningomyelocele, with PMG reported most frequently. In view of our interest in the causes of PMG, we reviewed clinical data including brain-imaging studies on 21 patients with PMG associated with deletion 22q11.2 and another 11 from the literature. We found that the cortical malformation consists of perisylvian PMG of variable severity and frequent asymmetry with a striking predisposition for the right hemisphere (P = 0.008). This and other observations suggest that the PMG may be a sequela of abnormal embryonic vascular development rather than a primary brain malformation. We also noted mild cerebellar hypoplasia or mega-cisterna magna in 8 of 24 patients. Although this was not the focus of the present study, mild cerebellar anomalies are probably the most common brain malformation associated with DEL22q11. PMID:17036343

Robin, Nathaniel H; Taylor, Clare J; McDonald-McGinn, Donna M; Zackai, Elaine H; Bingham, Peter; Collins, Kevin J; Earl, Dawn; Gill, Deepak; Granata, Tiziana; Guerrini, Renzo; Katz, Naomi; Kimonis, Virginia; Lin, Jean-Pierre; Lynch, David R; Mohammed, Shehla N; Massey, Roger F; McDonald, Marie; Rogers, R Curtis; Splitt, Miranda; Stevens, Cathy A; Tischkowitz, Marc D; Stoodley, Neil; Leventer, Richard J; Pilz, Daniela T; Dobyns, William B

2006-11-15

44

Exceptional Multiplicity of Cerebral Arteriovenous Malformations Associated with Hereditary Hemorrhagic Telangiectasia (Osler Weber-Rendu Syndrome)  

Microsoft Academic Search

PURPOSE: To describe the clinical and imaging features of seven patients with hereditary hem- orrhagic telangiectasia and an exceptional number of cerebral arteriovenous malformations (AVMs). METHODS: One hundred thirty-six patients from a dedicated hereditary hemorrhagic telangiectasia clinic were screened systematically for cerebral AVMs by means of MR imaging. Thirty-one were found to have abnormalities suggestive of a vascular malformation. Eighteen

Christopher M. Putman; John C. Chaloupka; Robert K. Fulbright; Issam A. Awad; Robert I. White; Pierre B. Fayad

45

Abernethy malformation type II with nephrotic syndrome and other multisystemic presentation: an illustrative case for understanding pathogenesis of extrahepatic complication of congenital portosystemic shunt.  

PubMed

Abernethy malformation, an extrahepatic congenital portosystemic shunt, is more often diagnosed based on associated cardiac or pulmonary malformation. Although predominately a pediatric diagnosis, "late diagnoses" in adulthood have been reported especially in type II malformations that involve only a partial shunt of portal circulation directly into the inferior vena cava. Aside from the cardiac-related presentation, Abernethy malformation is also associated with multiple liver nodules, either benign or malignant, and pulmonary hypertension. In this report, we present immunoglobulin A glomerulonephritis with nephrotic syndrome as a hitherto unrecognized manifestation of this malformation outside the pediatric population, in a patient who also had pulmonary hypertension and multiple liver tumors. We also propose a pathogenetic basis for this multisystemic presentation that includes release into the systemic circulation of unfiltered bacteria, vasoactive substances, and immunoglobulin A-antigen complexes. PMID:23245671

Schaeffer, David F; Laiq, Simin; Jang, Hyun-Jung; John, Rohan; Adeyi, Oyedele A

2013-03-01

46

Outcomes of the modified norwood procedure: hypoplastic left heart syndrome versus other single-ventricle malformations.  

PubMed

Recent studies have suggested that survival after the modified Norwood procedure is influenced by anatomy and is worse for patients with hypoplastic left heart syndrome (HLHS) than for patients with other forms of functional single ventricle. This study aimed to compare the outcomes of the modified Norwood procedure for these two groups at a single center. A retrospective chart review compared modified Norwood procedure outcomes between children with HLHS (n = 40) and children with other single-ventricle malformations (n = 19) from January 2002 to August 2012. The HLHS patients had a lower mean age (10.0 ± 13.2 days) at the time of operation than the non-HLHS patients (16.5 ± 18.5 days). The difference was not significant. The number of patients with a Sano modification was significantly higher in the HLHS group (HLHS 85 % vs non-HLHS 32 %; p < 0.001). The follow-up data did not differ between the groups (HLHS 3.6 ± 3.2 years vs non-HLHS 4.8 ± 3.3 years, nonsignificant difference). The overall operative survival was 85 %: 83 % for the patients with HLHS and 89 % for the patients with non-HLHS (nonsignificant difference). The Kaplan-Meier transplant-free survival estimate at 10 years was 73 % and did not differ between the HLHS patients (67 %) and the non-HLHS patients (84 %, nonsignificant difference). The timing of stages 2 and 3 palliation (bidirectional Glenn and external conduit Fontan) did not differ significantly (HLHS, 7.0 ± 2.8 months and 3.0 ± 0.5 years vs non-HLHS 6.1 ± 1.7 months and 2.8 ± 0.8 years). The two groups were similar with respect to the need for post-Norwood extracorporeal membrane oxygenation support, aortic arch reinterventions, atrioventricular valve repair, pulmonary artery reconstruction, pacemaker implantation, and progression to bidirectional Glenn and Fontan completion. The modified Norwood reconstruction provides good palliation for HLHS as well as other forms of functional single-ventricle anatomy. Survival, postoperative morbidity, and progression to Glenn and Fontan are not significantly different. PMID:23925414

Fortuna, Randall S; Ruzmetov, Mark; Geiss, Dale M

2014-01-01

47

CHD7 Deficiency in "Looper", a New Mouse Model of CHARGE Syndrome, Results in Ossicle Malformation, Otosclerosis and Hearing Impairment  

PubMed Central

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

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

2014-01-01

48

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

PubMed

Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four-year-old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the HNF1B (hepatocyte nuclear factor beta). It is hypothesized that HNF1B may play a role in intestinal differentiation and development. Our clinical report further expands the pre-and post-natal presentation of this rare microdeletion syndrome. © 2014 Wiley Periodicals, Inc. PMID:25256560

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

2014-12-01

49

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 ...

50

Syndromes of asplenia and polysplenia. A review of cardiac and non-cardiac malformations in 60 cases withspecial reference to diagnosis and prognosis  

Microsoft Academic Search

This review presents the cardiac and non-cardiac malformations in 60 cases with asplenia and polysplenia with special reference to distinguishing factors which may be helpful in the clinical recognition of these syndromes. The asplenia cases were predominantly male and presented with cyanosis. They frequently had transposition of the great arteries (72%) with pulmonary stenosis or atresia (88%) and total anomalous

V Rose; T Izukawa; C A Moës

1975-01-01

51

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)  

Microsoft Academic Search

Johanson-Blizzard syndrome (OMIM 243800) is an autosomal recessive disorder that includes congenital exocrine pancreatic insufficiency, multiple malformations such as nasal wing aplasia, and frequent mental retardation. We mapped the disease-associated locus to chromosome 15q14-21.1 and identified mutations, mostly truncating ones, in the gene UBR1 in 12 unrelated families with Johanson-Blizzard syndrome. UBR1 encodes one of at least four functionally overlapping

Julia Mayerle; Markus M Lerch; Andreas Tagariello; Klaus Zerres; Peter R Durie; Matthias Beier; Georg Hülskamp; Celina Guzman; Helga Rehder; Frits A Beemer; Ben Hamel; Philippe Vanlieferinghen; Ruth Gershoni-Baruch; Marta W Vieira; Miroslav Dumic; Ron Auslender; Vera L Gil-da-Silva-Lopes; Simone Steinlicht; Manfred Rauh; Stavit A Shalev; Christian Thiel; Andreas Winterpacht; Yong Tae Kwon; Alexander Varshavsky; André Reis; Martin Zenker

2005-01-01

52

Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review  

Microsoft Academic Search

Background  Syndromic craniosynostoses (Saethre–Chotzen, Pfeiffer 1, 2, 3, Apert, Crouzon, mainly) are particular in this that a single\\u000a gene defect (mostly fibroblast growth factor receptor [FGFR] 2) generates different clinical phenotypes that characterize\\u000a these syndromes. Significant brain abnormalities have been reported in all syndromes. However, whether these abnormalities\\u000a are secondary to the bone disease or primary (e.g. callosal agenesis) is still

Charles Raybaud; Concezio Di Rocco

2007-01-01

53

Omphalocele and gastroschisis and associated malformations.  

PubMed

The etiology of gastroschisis and omphalocele is unclear and their pathogenesis is controversial. Because previous reports have inconsistently noted the type and frequency of malformations associated with omphalocele and gastroschisis, we assessed these associated malformations ascertained between 1979 and 2003 in 334,262 consecutive births. Of the 86 patients with omphalocele, 64 (74.4%) had associated malformations. These included patients with chromosomal abnormalities (25, 29.0%); non-chromosomal syndromes including Beckwith-Wiedemann syndrome, Goltz syndrome, Marshall-Smith syndrome, Meckel-Gruber syndrome, Oto-palato-digital type II syndrome, CHARGE syndrome, and fetal valproate syndrome; malformation sequences, including ectopia cordis, body stalk anomaly, exstrophy of bladder, exstrophy of cloaca, and OEIS (Omphalocele, Exstrophy of bladder, Imperforate anus, Spinal defect); malformation complexes including Pentalogy of Cantrell, and non-syndromic multiple congenital anomalies (MCA) (26, 30.2%). Malformations of the musculoskeletal system (31, 23.5%), urogenital system (27, 20.4%), cardiovascular system (20, 15.1%), and central nervous system (12, 9.1%) were the most common other congenital malformations in patients with omphalocele and non-syndromic MCA. Of the 60 patients with gastroschisis, 10 (16.6%) had associated malformations. In contrast to omphalocele, gastroschisis was rarely associated with a complex pattern of malformation, that is, one each (1.7%) with a chromosomal abnormality (trisomy 21), sequence (amyoplasia congenita), unspecified dwarfism, and 7 (11.7%) with MCA. We observed a striking difference in the prevalence of total malformations (74.4% vs. 16.6%, P < 0.001) and specific patterns of malformations associated with omphalocele and gastroschisis which emphasizes the need to evaluate all patients with omphalocele and gastroschisis for possible associated malformations. Malformation surveillance programs should be aware that the malformations associated with omphalocele can be often classified into a recognizable malformation syndrome or pattern (44.2%). PMID:18386803

Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

2008-05-15

54

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

55

Ruptured vascular malformation masquerading as battered\\/shaken baby syndrome: A nearly tragic mistake  

Microsoft Academic Search

Battered\\/shaken baby syndrome is a clinical and pathologic diagnosis based on clinical examination, central nervous system dysfunction, and intracranial, optic nerve sheath, and retinal hemorrhages in infants under the age of three years. This report describes a case in which the battered\\/shaken baby syndrome was suspected because of an unusual parental reaction to an acute, mortal illness in their seven-week-old

Jonathan Wirtschafter; David J. Weissgold; Donald L. Budenz; Ian Hood; Lucy B. Rorke

1995-01-01

56

Diagnosis of Pulmonary Arteriovenous Malformation by Ultrafast Chest Computed Tomography in Rendu-Osler-Weber Syndrome with Cerebral Ischemia—A Case Report  

Microsoft Academic Search

Pulmonary arteriovenous malformations occur in 15-20% of patients with Rendu-Osler-Weber syndrome and can be the source of paradoxical emboli caus ing cerebral ischemia, septic emboli leading to brain abscesses, or polycythemia causing hyperviscosity and cerebral ischemia. The diagnosis of these malforma tions may be elusive, since classic clinical or radiologic findings may be absent in some patients. The authors report

Betsy B. Love; José Biller; Steve K. Landas; William W. Hoover

1992-01-01

57

Clinical Features: Goldberg-Shprintzen megacolon syndrome (GOSHS, OMIM #609460) is a multiple malformation disorder  

E-print Network

Sequencing for Goldberg-Shprintzen megacolon syndrome #12;12/11 Prenatal testing for a known mutation with GOSHS but is a genetically distinct disorder caused by mutations in the ZEB2 gene [5]. Distinctive of or underdeveloped thymus and parathyroid glands [7] Molecular Genetics: Mutations in the KIAA1279 gene (OMIM #609367

Gilad, Yoav

58

Femoral–facial syndrome with malformations in the central nervous system  

Microsoft Academic Search

The femoral hypoplasia–unusual facies syndrome (FFS) is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum.

Evelia Leal; Nelly Mac??as-Gómez; Lisa Rodr??guez; F. Miguel Mercado; Patricio Barros-Núñez

2003-01-01

59

Multiple cerebral arteriovenous malformations (AVMs)  

Microsoft Academic Search

From our series of 203 patients with cerebral vascular lesions, 18 (9%) could be included in the multiple arteriovenous malformation category. There were five patients with Rendu-Osler-Weber, one with Wyburn-Mason syndromes and two with concurrent arteriovenous malformations. The remaining ten patients (4%) had multiple brain arteriovenous malformations. Careful angiography with magnification is necessary to try to diagnose multiple brain AVMs,

R. A. Willinsky; P. Lasjaunias; K. Terbrugge; P. Burrows

1990-01-01

60

Pontine malformation, undecussated pyramidal tracts and regional polymicrogyria: a new syndrome  

PubMed Central

BACKGROUND Horizontal gaze palsy and progressive scoliosis (HGPPS) is caused by mutations in the ROBO3 gene, which plays a role in axonal guidance during brain development. HGPPS is characterized by the congenital absence of conjugate lateral eye movements with preserved vertical gaze and progressive scoliosis, as well as dysgenesis of brainstem structures and ipsilateral projection of the pyramidal tract. PATIENT A 4-year-11-month-old girl presented with psychomotor retardation and autistic traits. Magnetic resonance imaging revealed hypoplasia and malformation of the ventral portion of the pons and medulla oblongata. Diffusion tensor imaging revealed the absence of decussation of the bilateral pyramidal tracts. These findings were similar to the typical findings for HGPPS. However, restriction of horizontal eye movement was minimal, and bilateral polymicrogyria were also noted in the occipitotemporal cortex in the present patient. These findings have not been previously reported in patients with HGPPS. No mutations in the ROBO3, SLIT1, SLIT2, NTN1, SEMA3A and SEMA3F genes were identified. CONCLUSION This patient may have a disorder caused by an unidentified factor, other than a mutation in the genes analyzed, involved in corticogenesis, axonal guidance, and brainstem morphogenesis. PMID:24507697

Irahara, Kaori; Saito, Yoshiaki; Sugai, Kenji; Nakagawa, Eiji; Saito, Takashi; Komaki, Hirofumi; Nakata, Yasuhiro; Sato, Noriko; Baba, Kazumi; Yamamoto, Toshiyuki; Chan, Wai-Man; Andrews, Caroline; Engle, Elizabeth C; Sasaki, Masayuki

2014-01-01

61

Posterior fossa malformations.  

PubMed

Understanding embryologic development of the cerebellum and the 4th ventricle is essential for understanding posterior fossa malformations. Posterior fossa malformations can be conveniently classified into those that have a large posterior fossa and those with normal or small posterior fossa. Disorders associated with a large posterior fossa include classic Dandy-Walker malformation, Blake's pouch cyst, mega cisterna magna, and posterior fossa arachnoid cyst. Disorders associated with normal or small posterior fossa include Dandy-Walker variant, Joubert syndrome, tecto-cerebellar dysraphia, rhombencephalosynapsis, the neocerebellar hypoplasias, and cerebellar atrophy. Neuro-imaging features should enable the imager to provide the referring physician a logical approach to these complex posterior fossa malformations. PMID:21596278

Shekdar, Karuna

2011-06-01

62

Femoral-facial syndrome with malformations in the central nervous system.  

PubMed

The femoral hypoplasia-unusual facies syndrome (FFS) is a very rare association of femoral and facial abnormalities. Maternal diabetes mellitus has been mainly involved as the causal agent. We report the second case of FFS with anomalies in the central nervous system (CNS) including corticosubcortical atrophy, colpocephaly, partial agenesis of corpus callosum, hypoplasia of the falx cerebri and absent septum pellucidum. The psychomotor development has been normal. We propose that the CNS defects observed in these patients are part of the spectrum of abnormalities in the FFS. PMID:12504316

Leal, Evelia; Macías-Gómez, Nelly; Rodríguez, Lisa; Mercado, F Miguel; Barros-Núñez, Patricio

2003-01-01

63

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.

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

2014-01-01

64

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

PubMed Central

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

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

2009-01-01

65

Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.  

PubMed

The Simpson-Golabi-Behmel syndrome type 1 (SGBS1, OMIM #312870) is an X-linked overgrowth condition comprising abnormal facial appearance, supernumerary nipples, congenital heart defects, polydactyly, fingernail hypoplasia, increased risk of neonatal death and of neoplasia. It is caused by mutation/deletion of the GPC3 gene. We describe a macrosomic 27-week preterm newborn with SGBS1 who presents a novel GPC3 mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd-3rd finger syndactyly. PMID:22807161

Garavelli, Livia; Gargano, Giancarlo; Simonte, Graziella; Rosato, Simonetta; Wischmeijer, Anita; Melli, Nives; Braibanti, Silvia; Gelmini, Chiara; Forzano, Francesca; Pietrobono, Roberta; Pomponi, Maria Grazia; Andreucci, Elena; Toutain, Annick; Superti-Furga, Andrea; Neri, Giovanni

2012-09-01

66

Aspects cliniques des malformations capillaires  

Microsoft Academic Search

Capillary malformations (CM) are defects of the dermal capillary bed. These slow-flow malformations can affect any part of the body and are always lateralized, despite Unna's naevus. Present at birth, they grow proportionally with the child. In rare instance, they can be part of a more complex syndrome such as Sturge-Weber syndrome. Ectatic CMs of telangiectatic types can be cutaneous,

A.-C. Bataille; L.-M. Boon

2006-01-01

67

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

PubMed Central

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

2013-01-01

68

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

PubMed

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

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

2012-01-01

69

[Pulmonary arteriovenous malformation: two sibling cases].  

PubMed

Pulmonary arteriovenous malformations, are abnormal connections between pulmonary arteries and veins. However it can be presented as an isolated single anomaly, also may be multiple when accompanying with autosomal dominant hereditary hemorrhagic telengiectasia (Rendu-Osler-Weber Syndrome; ROWS). In this case report, two patients operated with the diagnosis of multiple pulmonary arteriovenous malformation familial screening done with the possibility of ROWS and pulmonary arteriovenous malformation found in her sister, are presented. PMID:21554236

Yenigün, Bülent Mustafa; Yüksel, Cabir; Enön, Serkan; Kay? Cang?r, Ayten; Atasoy, Kayhan Cetin

2011-01-01

70

Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations.  

PubMed

We describe clinical manifestations and historical data on ten patients with Kabuki make-up syndrome. All patients are of European ancestry and all have the characteristics of the syndrome, including typical face, retarded physical development, and mild to moderate mental retardation. Two of the probands have low-normal intelligence. Prominent and broad philtrum was described as an important component manifestation of the syndrome. In three families some clinical manifestations of Kabuki make-up syndrome were observed in parents and some other relatives of the probands in three generations. Some phenotypic differences between Asian and non-Asian patients were noted. The possible cause of the syndrome is discussed. The present observations and a literature review suggest autosomal dominant inheritance with different expressivity of the Kabuki make-up syndrome. PMID:7625432

Ilyina, H; Lurie, I; Naumtchik, I; Amoashy, D; Stephanenko, G; Fedotov, V; Kostjuk, A

1995-03-27

71

Anorectal malformations  

Microsoft Academic Search

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,

Marc A Levitt; Alberto Peña

2007-01-01

72

Epidemiology of Noncomplex Left Ventricular Outflow Tract Obstruction Malformations (Aortic Valve Stenosis, Coarctation of the Aorta, Hypoplastic Left Heart Syndrome) in Texas, 1999 -2001  

PubMed Central

BACKGROUND The left ventricular outflow tract (LVOT) malformations aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) contribute significantly to infant mortality due to birth defects. Previous epidemiology data showed rate differences between male and female and white and black ethnic groups. The Texas Birth Defects Registry, an active surveillance program, enables study in a large, diverse population including Hispanics. METHODS Records of children up to 1 year old with AVS, CoA, and HLHS born in Texas from 1999 to 2001, were collected from the registry. Those including additional heart defects or a chromosomal anomaly were excluded. Multivariate analysis included: infant sex; United States–Mexico border county residence; and maternal age, race/ethnicity, birthplace, and education. RESULTS There were 910 cases among 1.08 million live births, of which 499 met inclusion criteria. Multivariate modeling of all LVOT malformations combined demonstrated lower prevalence rate ratios (PRRs) for black males (0.26) and Hispanic males (0.70). Similar results were found for CoA but not AVS or HLHS. Higher PRRs were noted for increased maternal age for LVOT (1.3 for 24–34 years; 1.7 for >34 years), AVS, and HLHS, but not CoA, and higher PRRs across all diagnoses for males (LVOT PRR, 2.4) were noted. CoA PRRs were higher in border county vs. non–border county residents (PRR, 2.1). Maternal education and birthplace were not significant factors. CONCLUSIONS There are rate differences for males among all 3 ethnic groups. Sex and ethnic differences suggest genetic etiologies, where the ethnic differences could be used to find susceptibility loci with mapping by admixture linkage disequilibrium. Increased CoA rates along the U.S.–Mexico border suggest environmental causes that will require further monitoring. PMID:16007587

McBride, Kim L.; Marengo, Lisa; Canfield, Mark; Langlois, Peter; Fixler, David; Belmont, John W.

2006-01-01

73

Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.  

PubMed

Costello syndrome is a rare multiple congenital anomaly syndrome caused by heterozygous germline HRAS mutations, which is characterized by intellectual disability, growth retardation, distinctive facies, loose skin, cardiomyopathy and a preposition to malignancies. Although teeth abnormalities have been encountered in nearly two-thirds of the patients in literature, the evaluation tended to be limited to the extent which can be obtained from physical examination. We investigated detailed craniofacial, oral and dental findings in four patients with Costello syndrome. In this study, images reconstructed by multi-detector row computed tomography (MDCT) were used as substitutes for dental cast study and panoramic and lateral cephalometric radiograph studies to evaluate dental arches, tooth size, relationships between craniofacial and dental structures, and hypodontia. All four patients showed true/relative macrocephaly with facial bone hypoplasia and gingival hypertrophy. Occlusal attrition, malocclusion, small dental arches, microdontia, and convex face were noted in three patients. In addition, one patient showed dental caries, conic tooth and gingivitis, and another patient showed hypodontia. Our study suggests that craniofacial and dental abnormalities are common in Costello syndrome patients and comprehensive dental care should be provided from early infancy. To our knowledge, this is the first study of thorough craniofacial and dental evaluation by using MDCT in Costello syndrome. MDCT is a useful tool for precise evaluation of craniofacial and oral manifestations in patients with congenital anomaly/intellectual disability syndromes. PMID:23751039

Takahashi, Masashi; Ohashi, Hirofumi

2013-06-01

74

Arteriovenous Malformation  

Microsoft Academic Search

\\u000a Intracranial arteriovenous malformations (AVMs) are congenital lesions arising from abnormal blood vessel formation [1]–[3]. Whereas normal embryogenesis results in the differentiation of primordial vascular channels into mature arteries, veins,\\u000a and capillaries, patients with AVMs develop direct arteriovenous shunts without the appropriate intervening vascular beds.\\u000a Recent large, prospective, population-based studies have determined the incidence of newly diagnosed AVM patients to range

Bruce E. Pollock

75

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) ...

76

Animal models for human craniofacial malformations.  

PubMed

Holoprosencephaly malformations, of which the fetal alcohol syndrome appears to be a mild form, can result from medial anterior neural plate deficiencies as demonstrated in an ethanol treated animal model. These malformations are associated with more medial positioning of the nasal placodes and resulting underdevelopment or absence of the medial nasal prominences (MNPs) and their derivatives. Malformations seen in the human retinoic acid syndrome (RAS) can be produced by administration of the drug 13-cis-retinoic acid in animals. Primary effects on neural crest cells account for most of these RAS malformations. Many of the malformations seen in the RAS are similar to those of hemifacial microsomia, suggesting similar neural crest involvement. Excessive cell death, apparently limited to trigeminal ganglion neuroblasts of placodal origin, follows 13-cis retinoic acid administration at the time of ganglion formation and leads to malformations virtually identical to those of the Treacher Collins syndrome (TCS). Secondary effects on neural crest cells in the area of the ganglion appear to be responsible for the TCS malformations. Malformations of the DiGeorge Syndrome are similar to those of the RAS and can be produced in mice by ethanol administration or by "knocking out" a homeobox gene (box 1.5). Human and animal studies indicate that cleft lips of multifactorial etiology may be generically susceptible because of small MNP)s or other MNP developmental alterations, such as those found in A/J mice, that make prominence contact more difficult. Experimental maternal hypoxia in mice indicates that cigarette smoking may increase the incidence of cleft lip by interfering with morphogenetic movements. Other human cleft lips may result from the action of a single major gene coding for TGF-alpha variants. A study with mouse palatal shelves in culture and other information suggest that a fusion problem may be involved. PMID:1812129

Johnston, M C; Bronsky, P T

1991-01-01

77

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

78

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

PubMed

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 (Mks1(del64-323)) 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 Mks1(del64-323) 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 Mks1(del64-323) 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

79

Pulmonary arteriovenous malformation: a rare anterior mediastinal mass.  

PubMed

Pulmonary arteriovenous malformations are rare pulmonary vascular lesions which are associated with Osler Weber Rendu syndrome (hereditary haemorrhagic telangectasia). They act as right-to-left shunts and have cardiovascular and embolic complications. We present a patient with an apparent anterior mediastinal mass secondary to a pulmonary arteriovenous malformations which was successfully treated percutaneously. PMID:23043574

Walklin, Ryan Patrick; Entwisle, James; Cheung, Ying Kei; Dayal, Viswas

2012-10-01

80

Congenital malformations in Shimla  

Microsoft Academic Search

Congenital malformations were studied over a period of five years in 10, 100 consecutive births including still births at\\u000a Indira Gandhi Medical College, Shimla. Out of these, 180 babies had one or the other congenital malformations and the overall\\u000a incidence was 1.78%. Amongst the 311 still born babies 47 had congenital malformations indicating that the incidence of congenital\\u000a malformations was

Neelam Grover

2000-01-01

81

[Hemangiomas and vascular malformations. Review and update].  

PubMed

In 1982, Mulliken and Glowacki classificated congenital vascular lesions in two biological groups with different treatment, evolution and prognosis: Haemangiomas and Vascular malformations. We have seen 230 patients, 145 with haemangiomas and 85 with vascular malformations (74 with low flow and 11 with high flow). We have reviewed clinical, evolutive and ecographic findings. Depending on the type and localization of the lesion, we completed the study with CT, MRI and angiography. Among all the patients with haemangiomas; 45 were treated with local or systemic steroids because of bleeding, ulceration or affection in functional areas. In two more, we used interferon alfa 2a because of Kassabach-Merritt Syndrome. 23 were operated on with good aesthetic results. Patients with vascular malformations were managed with embolization, sclerotherapy, surgical approach or conservatively. Capillary malformations were treated with lasertherapy. We emphasize in correct classification of vascular lesions prior to start diagnosis, treatment or parents information. PMID:9376236

Lobato, R; Martínez, L; Leal, N; Díaz, M; Díez-Pascual, R; Velasco, B; Ros, Z; López-Gutiérrez, J C

1997-07-01

82

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 ...

83

Management of pulmonary arteriovenous malformations.  

PubMed

Pulmonary arteriovenous malformations are rare lesions with significant clinical complications. These lesions are commonly seen in patients with hereditary hemorrhagic telangiectasia (formerly Osler-Weber-Rendu syndrome). Interventional radiologists are a key part of the treatment team in this complex disease, and a thorough understanding of the disease process is critical to providing good patient care. In this article, the authors review the disease course and its association with hereditary hemorrhagic telangiectasia, discusses the clinical evaluation and treatment of these complex patients, and outlines complications and follow-up. PMID:22379273

Meek, Mary E; Meek, James C; Beheshti, Michael V

2011-03-01

84

Pulmonary arteriovenous malformations.  

PubMed

Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular structures that most often connect a pulmonary artery to a pulmonary vein, bypassing the normal pulmonary capillary bed and resulting in an intrapulmonary right-to-left shunt. As a consequence, patients with PAVM can have hypoxemia and paradoxical embolization complications, including stroke and brain abscess. PAVMs may be single or multiple, unilateral or bilateral, and simple or complex. Most PAVMs are hereditary and occur in hereditary hemorrhagic telangiectasia, an autosomal dominant vascular disorder, and screening for PAVM is indicated in this subgroup. PAVMs may also be idiopathic, occur as a result of trauma and infection, or be secondary to hepatopulmonary syndrome and bidirectional cavopulmonary shunting. Diagnostic testing involves identifying an intrapulmonary shunt, with the most sensitive test being transthoracic contrast echocardiography. Chest CT scan is useful in characterizing PAVM in patients with positive intrapulmonary shunting. Transcatheter embolotherapy is the treatment of choice for PAVM. Lifelong follow-up is important because recanalization and collateralization may occur after embolization therapy. Surgical resection is rarely necessary and reserved for patients who are not candidates for embolization. Antibiotic prophylaxis for procedures with a risk of bacteremia (eg, dental procedures) is recommended in all patients with PAVM because of the risk of cerebral abscess. PMID:24008954

Cartin-Ceba, Rodrigo; Swanson, Karen L; Krowka, Michael J

2013-09-01

85

Screening for Systemic Manifestations of Vascular Malformations in Patients With Hereditary Haemorrhagic Telangiectasia (Osler Disease)  

Microsoft Academic Search

Hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) is a disease characterized by systemic vascular malformations. Typical clinical manifestations are recurrent epistaxis and telangiectases of the skin and the mucous membranes. The syndrome is furthermore characterized by its hereditary aspect. The disease seems to be much more complicated than previously thought, mainly because of the accompanying vascular malformations in vital organs, like the

Ana Cerra Pohl; Jochen Alfred Werner; Benedikt Josef Folz

86

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

87

Coil Embolization of a Neonatal Pulmonary Arteriovenous Malformation  

Microsoft Academic Search

Pulmonary arteriovenous malformation (PAVM), as a part of Osler-Weber-Rendu Syndrome, in the neonate, is a rare hereditary vascular malformation. Large intrapulmonary right-to-left shunting, causing hypoxaemia and cyanosis, can be a life-threatening condition. Repeated transcatheter coil embolization procedures proved to be a favorable strategy to improve systemic arterial oxygen saturation, with a good outcome in a newborn child. While the radiation

R. G. Bennhagen; G. Holje; S. Laurin; E. Pesonen

2002-01-01

88

Post-mortem examination of prenatally diagnosed fatal renal malformation  

Microsoft Academic Search

Objective:Renal malformations can be associated with genetic syndromes and chromosomal disorders. Fetal autopsy including histopathological examination of kidney is important to arrive at definite diagnosis. The objective was to assess importance of fetal autopsy and histopathology.Study Design:Retrospective analysis of cases with fetal renal malformations was done. All fetuses terminated were examined with whole body radiograph, external and internal examination and

N Kumari; M Pradhan; V H Shankar; N Krishnani; S R Phadke

2008-01-01

89

[Embolotherapy of recanalized symptomatic pulmonary arteriovenous malformations in a patient with Rendu-Osler-Weber syndrome: a case report and review of literature].  

PubMed

Rendu-Osler-Weber disease is a genetic disorder resulting in mucosal and celiac angiodysplastic lesions. We present a case of a 47-year-old woman with Rendu-Osler-Weber disease manifesting with telangiectasias on the skin and mucosa of the face and pulmonary and hepatic arteriovenous malformations (AVMs). Due to cardiovascular and neurological (recurrent brain abscess) complications of pulmonary AVMs, the patient was qualified for the embolization of a recanalized AVM in the right lung. Endovascular embolotherapy is the method of choice in treatment of pulmonary AVMs allowing for avoidance of complications and prolonged survival. Due to the risk of recanalization of embolized AVMs, a long-term follow up is necessary. PMID:23276025

?ezak, Aleksandra; Su?kowska, Katarzyna; Palczewski, Piotr; Swietlik, Emilia; Doboszy?ska, Anna; Rowi?ski, Olgierd

2012-01-01

90

CLOVES syndrome.  

PubMed

A cohort of patients with overgrowth syndromes has been identified with congenital lipomatous overgrowth, dysregulated fat deposits, and mixed vascular malformations. The acronym CLOVES was given on a heuristic basis to stand for congenital lipomatous overgrowth (CLO), vascular malformation (V), epidermal nevi (E), and scoliosis and spinal deformities (S). These patients have upper limb anomalies with variable phenotypes. Although hand anomalies alone cannot make the diagnosis, the foot, truncal, cutaneous and spinal anomalies are particularly diagnostic. CLOVES syndrome has emerged as a distinct clinical entity diagnosed by clinical and radiographic examinations. The overgrowth pattern is now easily distinguished from other overgrowth syndromes. PMID:24161472

Bloom, Jacob; Upton, Joseph

2013-12-01

91

Pelvic vascular malformations.  

PubMed

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

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

2013-12-01

92

Management of Vascular Malformations  

PubMed Central

Background: Even though vascular malformations are well categorized, further details are relatively unknown. Of treated patients regarding the frequency, demographic distributions, and other related factors by multivariate regression analyses in proportion to total vascular malformations, methods of treatment and how to manage them have not been elucidated thoroughly. Methods: From January 2006 to March 2012, consecutively treated patients with vascular anomalies were included in this investigation at least 1-year follow-up. Results: Of the total of 123 cases, 86 females and 37 males, the mean follow-up was 3.5?±?1.68 years, and the frequency of treatment was 1–8 times (1.8?±?1.30). Surgery was performed for 22 cases (17.9%) of venous malformations and arteriovenous malformations. In multivariate regression, the frequency of treatment was significantly correlated with the length of follow-up (P < 0.001), age (P < 0.05), and type of malformations (P < 0.05) (R2 = 0.18). Need for surgery was significantly increased with age at odds ratio (OR) of 1.06 [95% confidence interval (CI), 1.03–1.80] (P < 0.001), and head/face/neck, and upper limb are more performed at OR of 0.24 (95% CI, 0.07–0.85) (P < 0.05). The satisfaction score varied from 1 to 5 (3.9?±?0.68). Complications occurred in 3 cases (2.4%). In logistic regression of complications, the OR of the satisfaction score was 0.13 (95% CI, 0.02–0.80) (P < 0.05). Conclusions: Treatment of vascular malformations is an integral part of multidisciplinary approaches. Venous malformations are more frequent in combination surgery, and if there are fewer complications, the patients’ satisfaction increases.

Houbara, Seiji; Hirano, Akiyoshi

2014-01-01

93

Associated malformations in patients with limb reduction deficiencies.  

PubMed

Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696

Stoll, Claude; Alembik, Yves; Dott, Beatrice; Roth, Marie-Paule

2010-01-01

94

Phylogenetic and recombination analysis of the homing protein domain of grapevine fanleaf virus (GFLV) isolates associated with 'yellow mosaic' and 'infectious malformation' syndromes in grapevine.  

PubMed

The RNA2 of seven grapevine fanleaf virus (GFLV) isolates from vines with yellow mosaic (YM) symptoms from different origin were sequenced. These sequences showed a high variability in the homing protein (2A(HP)) and, in five of them, a putative recombination with arabis mosaic virus (ArMV) was detected. To investigate recombination frequency, the partial sequences of the 2A(HP) of 28 additional GFLV isolates from nine different countries, showing either YM or infectious malformations (MF) symptoms, were obtained and compared with those of GFLV isolates from GenBank. The analysis confirmed the high level of sequence variability (up to 41 % at the nucleotide level) among isolates. In phylogenetic trees constructed using different approaches, the sequenced isolates always clustered in four conserved groups, three of which comprised YM strains (groups 1, 2 and 3), and one (group 4) the MF strains. Potential interspecific recombination sites between GFLV and ArMV were predicted in the 2A(HP) gene of several isolates, all of which were associated with YM symptoms. PMID:24916055

Elbeaino, Toufic; Kiyi, Hulusi; Boutarfa, Reza; Minafra, Angelantonio; Martelli, Giovanni Paolo; Digiaro, Michele

2014-10-01

95

Genetics Home Reference: Capillary malformation-arteriovenous malformation syndrome  

MedlinePLUS

... disorder of the vascular system, which is the body's complex network of blood vessels. The vascular system consists of arteries, which carry oxygen-rich blood from the heart to the body's various organs and tissues; veins, which carry blood ...

96

Rare malformation of glans penis: arteriovenous malformation.  

PubMed

Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children. PMID:23771468

Akin, Y; Sarac, M; Yucel, S

2013-01-01

97

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

98

Single gene influences on radiologically-detectable malformations of the inner ear.  

PubMed

Inner ear malformations associated with hearing loss or vestibular dysfunction are discussed from the viewpoint of the etiologies of the malformation. Symptoms of classification of inner ear malformations are discussed. The significance of malformations of the cochlea and vestibular aqueduct to auditory function are discussed. Genetics features and characteristics of Branchio-oto-renal, Waardenburg's, Pendred's, DiGeorge's, Wildervanck, Fountain, and Treacher Collins syndromes are discussed in relation to ear abnormalities and hearing. Similar attention is given to genetic studies of nonsyndromic hearing loss. PMID:9777486

Smith, S D; Harker, L A

1998-01-01

99

Agenesis of the vermis cerebelli and malformations of the posterior fossa in childhood and adolescence.  

PubMed

Three cases of cerebellar vermis agenesis are reported and the relevant literature (19 other cases) is reviewed. Other posterior fossa malformations, such as a mega-cisterna magna, arachnoid cyst and Dandy-Walker syndrome, are discussed both from the pathological and clinical view point. We put forward a hypothesis that agenesis of the cerebellar vermis and Dandy-Walker syndrome could be regarded as two different stages of the same malformation. PMID:503277

Mercuri, S; Curatolo, P; Giuffrè, R; Di Lorenzo, N

1979-09-01

100

Spontaneous Regression of Cerebral Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia  

Microsoft Academic Search

Summary: Cerebral arteriovenous malformations (AVMs) are associated with hereditary hemorrhagic telangiectasia (HHT). I report a case of a patient with HHT with four cerebral AVMs in whom one AVM spontaneously regressed during a 5-year period. The spontaneous regression of this AVM in this patient with HHT supports the theory that AVMs associated with this syndrome have a different nat- ural

Harry J. Cloft

101

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

102

Large vestibular aqueduct syndrome.  

PubMed

Large Vestibular Aqueduct Syndrome is a congenital malformation of the temporal bone characterised by early onset of sensorineural hearing loss and vestibular disturbance. Familial large vestibular aqueduct syndrome suggests autosomal recessive or X-linked inheritance and accounts for non-syndromic sensorineural hearing loss in these patients. PMID:16570713

Dipak, S; Prepageran, N; Sazila, A S; Rahmat, O; Raman, R

2005-10-01

103

Congenital Chiari malformations.  

PubMed

Chiari malformation is the commonest anomaly of the craniovertebral junction involving both the skeletal as well as the neural structures. This entity has rapidly evolved over the past decade with newer visualization techniques, thus posing new challenges to diagnosis and management. This review includes the developmental theories, the latest nomenclature and existing treatment modalities of this interesting anomaly. Five theories tried to explain the malformation of the hindbrain and the neuraxis but no single theory completes the development of embryonic defects. Several atypical presentations have been reported with either incidental/asymptomatic features resulting in further classifications. The new magnetic resonance imaging flow techniques attempt to substantiate the clinical presentations and correlate with the abnormality which can be subtle in correlation. Surgical correction to improve the cranial volume, decrease the hydrocephalus and improve flow across the foramen magnum is the mainstay but needs to be tailored to a given type of malformation. Further clinical and imageological studies, especially longitudinal natural history, might improve our understanding of the atypical/asymptomatic presentations and the management that is currently available. PMID:20228456

Vannemreddy, Prasad; Nourbakhsh, Ali; Willis, Brian; Guthikonda, Bharat

2010-01-01

104

Imaging features of ductal plate malformations in adults.  

PubMed

Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis. PMID:21840516

Venkatanarasimha, N; Thomas, R; Armstrong, E M; Shirley, J F; Fox, B M; Jackson, S A

2011-11-01

105

Split cervical spinal cord malformation and vertebral dysgenesis.  

PubMed

We report a case of vertebral malformation associated with diplomyelia believed to be a type II split cord malformation. Cervicothoracic level cases are exceptional. This article reports the case of an 11-year-old boy with no neurological symptoms who had not undergone surgery. The diagnosis was made during pregnancy by prenatal screening with ultrasound and MRI. Several embryological theories have been offered to provide an explanation for this syndrome. Close follow-up is mandatory. Surgery must only be considered if neurological deterioration occurs. PMID:19837020

Andro, C; Pecquery, R; De Vries, P; Forlodou, P; Fenoll, B

2009-11-01

106

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

107

Anencephaly and its Associated Malformations  

PubMed Central

Introduction: Anencephaly is a serious neural tube defect in which parts of the brain and skull are not developed. But apart from this it is also associated with other malformations which are not related to neural tube in development. Aim: The present study was undertaken to find the associated congenital malformations in western region of India and establish a aetiological correlation. Materials and Methods: The study was conducted using 20 anencephalic fetuses. Results: Nearly 80% of fetuses had associated malformations. Spina bifida was seen in 9 fetuses and cleft palate in 8. Female fetus with cleft palate had other severe associated gastrointestinal and skeletal malformation. Conclusion: In cases of anencephaly other associated malfor–mations like spina bifida and cleft palate are commonly seen. PMID:25386414

Meshram, Pritee Madan; Hattangdi, Shanta Sunil

2014-01-01

108

[Complications in the evolution of haemangiomas and vascular malformations].  

PubMed

The differentiation of haemangiomas and vascular malformations is histological, clinical and prognostic. Although the majority of haemangiomas evolve towards spontaneous resolution, as many as 10% of cases can develop complications with ulceration, pain and haemorrhaging. Besides, the localisation of haemangiomas in the head and neck, next to vital structures, can compromise their functions. Hence, compression of the airway might be a vital emergency. Periorbital haemangiomas can give rise to amblyopia due to sensory deprivation or due to a restrictive strabismus. Lumbosacral haemangiomas must be studied with Nuclear Magnetic Resonance because of their frequent association with alterations in the midline at the level of the spine, anus, genitals or kidneys. Amongst visceral haemangiomas, hepatic haemangiomas are the most serious due to their association with congestive cardiac insufficiency. The association of extensive facial haemangiomas with anomalies of the central nervous system, vascular, cardiac, ocular and sternal anomalies, is denominated PHACE syndrome and is frequently complicated by mental deficiency, convulsions or ictus. Vascular malformations of trigeminal localisation are associated in up to 15% of cases with glaucoma or choroidal or leptomeningeal haemangiomas (Sturge-Weber syndrome). Combined vascular malformations localised in the extremities can become complicated with thrombophlebitis, regional osteolysis and even distant thromboembolisms (Klippel-Treneaunay Syndrome). On the other hand, there is a coagulopathy due to consumption (Kassabach-Merrit Syndrome) that can complicate some vascular tumours such as the Kaposiform haemangioendothelioma and the tufted angioma. Finally, the complications of the treatments employed are reviewed. PMID:15148512

Belzunce, A; Casellas, M

2004-01-01

109

Neurobiology of Disease Brain and Eye Malformations Resembling WalkerWarburg  

E-print Network

Neurobiology of Disease Brain and Eye Malformations Resembling Walker­Warburg Syndrome Durbeej,1,2 Tobias Willer,1,2 Amy Turner,1,2 Steven A. Moore,3 and Kevin P. Campbell1,2,4,5 1Howard Hughes 52242 Walker­Warburg syndrome (WWS) is a severe congenital disease that is characterized by brain

Campbell, Kevin P.

110

Vascular malformations of the gastrointestinal tract.  

PubMed

The advent of fiberoptic endoscopy, which became widespread in the evaluation of gastrointestinal bleeding throughout the late 1970s and 1980s, has dramatically changed both our understanding of the extent to which vascular malformations account for gastrointestinal blood loss and our ability to treat these lesions at the time of diagnosis. Colonic vascular malformations appear to be the single most common cause of acute or recurrent gastrointestinal bleeding episodes in patients over 60 years of age, being responsible for the bleeding in as many as 35% of such patients. Although less common as a cause of upper gastrointestinal bleeding, these lesions still account for 2% to 5% of bleeding lesions in older patients. Diagnosis is accomplished by endoscopy, and the vascular malformations can then be coagulated via the endoscope using one of a number of thermal systems. The argon laser, the heater probe, and the BICAP system are all effective and safe throughout the gastrointestinal tract, especially in the cecum and right colon, where the majority of sporadic vascular malformations occur. Monopolar cautery and the Nd:YAG laser are equally efficacious, but their greater and less predictable depth of coagulation make them much less safe in the cecum and right colon. There are no apparent advantages in terms of efficacy and safety between laser treatment and the other thermal modalities. The laser has the advantage of being quicker, which is especially important when treating large or multiple lesions. The other modalities have the advantages of portability and low relative cost. Endoscopic therapy with lasers or other thermal devices is nonspecific. The effects are achieved by thermally coagulating the mucosal vascular lesions, allowing the coagulated tissue to slough, and leaving a mucosal ulceration that subsequently heals with re-epithelialization. Endoscopic coagulation has thus been reported effective in the treatment of gastrointestinal mucosal vascular lesions regardless of their etiology or characteristics. It has been effective for sporadic vascular malformations, hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease), radiation proctocolitis, the blue rubber-bleb nevus syndrome, and diffuse gastric antral vascular ectasia (the watermelon stomach). As we move through the 1990s and beyond, these endoscopic modalities offer an effective, relatively safe, and clearly less invasive treatment option for the many patients who experience acute, recurrent, or chronic gastrointestinal bleeding from any of these lesions. PMID:1589831

Buchi, K N

1992-06-01

111

Neuroimaging of Dandy-Walker malformation: new concepts.  

PubMed

Dandy-Walker malformation (DWM) is the most common human cerebellar malformation, characterized by hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and an enlarged posterior fossa with upward displacement of the lateral sinuses, tentorium, and torcular. Although its pathogenesis is not completely understood, there are several genetic loci related to DWM as well as syndromic malformations and congenital infections. Dandy-Walker malformation is associated with other central nervous system abnormalities, including dysgenesis of corpus callosum, ectopic brain tissue, holoprosencephaly, and neural tube defects. Hydrocephalus plays an important role in the development of symptoms and neurological outcome in patients with DWM, and the aim of surgical treatment is usually the control of hydrocephalus and the posterior fossa cyst. Imaging modalities, especially magnetic resonance imaging, are crucial for the diagnosis of DWM and distinguishing this disorder from other cystic posterior fossa lesions. Persistent Blake's cyst is seen as a retrocerebellar fluid collection with cerebrospinal fluid signal intensity and a median line communication with the fourth ventricle, commonly associated with hydrocephalus. Mega cisterna magna presents as an extraaxial fluid collection posteroinferior to an intact cerebellum. Retrocerebellar arachnoid cysts frequently compress the cerebellar hemispheres and the fourth ventricle. Patients with DWM show an enlarged posterior fossa filled with a cystic structure that communicates freely with the fourth ventricle and hypoplastic vermis. Comprehension of hindbrain embryology is of utmost importance for understanding the cerebellar malformations, including DWM, and other related entities. PMID:24132069

Correa, Gustavo Gumz; Amaral, Lázaro Faria; Vedolin, Leonardo Modesti

2011-12-01

112

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions  

PubMed Central

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

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

2013-01-01

113

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

114

Brain arteriovenous malformations.  

PubMed

An arteriovenous malformation (AVM) is a particular abnormality of blood vessels. Brain AVMs are congenital, but symptoms usually do not appear until the second decade of life - if at all. The most common presenting symptom is a brain hemorrhage, but other possible symptoms include neurological deficits, seizures and headaches. Until recently, the gold standard for diagnosing AVM was conventional angiography. However, computed tomography and magnetic resonance angiography are now the first-line diagnostic tools for AVMs. This article reviews the presenting symptoms, diagnostic procedures and treatment options for brain AVMs, including embolization, micro-surgery and radiosurgery. This article is a Directed Reading. Your access to Directed Reading quizzes for continuing education credit is determined by your CE preference. For access to other quizzes, go to www.asrt.org/store. PMID:21771938

Ferrara, Adi R

2011-01-01

115

Radiosurgery for arteriovenous malformations.  

PubMed

Stereotactic radiosurgery is the term coined by Lars Leksell to describe the application of a single, high dose of radiation to a stereotactically defined target volume. In the 1970s, reports began to appear documenting the successful obliteration of arteriovenous malformations (AVMs) with radiosurgery. When an AVM is treated with radiosurgery, a pathologic process appears to be induced that is similar to the response-to-injury model of atherosclerosis. Radiation injury to the vascular endothelium is believed to induce the proliferation of smooth-muscle cells and the elaboration of extracellular collagen, which leads to progressive stenosis and obliteration of the AVM nidus thereby eliminating the risk of hemorrhage. The advantages of radiosurgery - compared to microsurgical and endovascular treatments - are that it is noninvasive, has minimal risk of acute complications, and is performed as an outpatient procedure requiring no recovery time for the patient. The primary disadvantage of radiosurgery is that cure is not immediate. While thrombosis of the lesion is achieved in the majority of cases, it commonly does not occur until two or three years after treatment. During the interval between radiosurgical treatment and AVM thrombosis, the risk of hemorrhage remains. Another potential disadvantage of radiosurgery is possible long term adverse effects of radiation. Finally, radiosurgery has been shown to be less effective for lesions over 10 cc in volume. For these reasons, selection of the optimal treatment for an AVM is a complex decision requiring the input of experts in endovascular, open surgical, and radiosurgical treatment. In the pages below, we will review the world's literature on radiosurgery for AVMs. Topics reviewed will include the following: radiosurgical technique, radiosurgery results (gamma knife radiosurgery, particle beam radiosurgery, linear accelerator radiosurgery), hemorrhage after radiosurgery, radiation induced complications, repeat radiosurgery, and radiosurgery for other types of vascular malformation. PMID:22004703

Friedman, William A; Bova, Frank J

2011-10-01

116

Patterns of anomalies in children with malformed ears.  

PubMed

Sixteen children with anomalies of the auricle and/or middle ear who presented malformations of the face, mouth, upper airway, spine, limbs, heart, gastrointestinal (GI), and/or genitourinary (GU) systems, were described. While clusters of anomalies suggested syndromes such as the oculo-auriculo-vertebral syndrome of Goldenhar, hamifacial microsomia, mandibulo-facial dysostosis (Treacher Collins syndrome), Pierre Robin, Klippel-Feil, Moebius, Duane, and/or VATER syndromes, many children did not fit what are usually considered even minimal criteria for these syndromes. Several children had malformations which fit the description of more than one syndrome. The importance of investigating the children for unsuspected anomalies, especially of the GU system, was emphasized. Life threatening problems in this group consisted of airway problems, congenital heart disease, and major anomalies of the GI and GU systems. Better management of sucking, swallowing and airway problems might have decreased the early morbidity and mortality (3/16) in this group. Children with multiple defacing anomalies may not be mentally retarded so that aggressive management of their visceral anomalies and hearing problems, and early educational intervention are mandatory. Delay in development may be due to hearing loss, vestibular impairment, ataxia, the consequences of early malnutrition, and multiple hospitalizations rather than to mental retardation. A pessimistic attitude in infancy is unwarranted since it is impossible to predict which children will end up competitive individuals. PMID:966914

Rapin, I; Ruben, R J

1976-10-01

117

Esotropia in Kabuki syndrome.  

PubMed

Kabuki syndrome is a mental retardation-malformation syndrome affecting multiple organ systems. The typical facies resembles the make-up worn in Japanese Kabuki theater. Although there are several clinical findings, the ocular findings affecting vision have been underreported. The current patient shows esotropia and previously unreported nummular corneal opacities. PMID:21214160

Sharma, Pradeep; Dave, Vivek

2010-01-01

118

Genetics Home Reference: Pendred syndrome  

MedlinePLUS

... the structure or function of pendrin, which disrupts ion transport. Impaired pendrin activity in the thyroid and inner ... chloride ; familial ; gene ; goiter ; hereditary ; incidence ; inherited ; ions ; ion transport ; malformation ; protein ; recessive ; sensorineural ; sensorineural hearing loss ; syndrome ; ...

119

Embolization of uterine arteriovenous malformation  

PubMed Central

Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment PMID:24639742

Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua

2013-01-01

120

Cerebral malformations without antenatal diagnosis  

Microsoft Academic Search

Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms),\\u000a or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in\\u000a utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered\\u000a in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital

Nadine J. Girard

2010-01-01

121

Cerebral Cavernous Malformations: Surgical Perspective  

Microsoft Academic Search

\\u000a Cerebral cavernous malformations (CCMs) are rare vascular lesions [1], [2]; however, because hemorrhage of CCMs can result in significant morbidity and mortality [3], [4], a great deal of effort has been devoted to their detection and treatment. Although previously thought to be solely congenital,\\u000a it is now well recognized that many cavernous malformations are acquired [5], arising de novo or

Robert L. Dodd; Gary K. Steinberg

122

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

123

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

124

Pancreatic Arteriovenous Malformation  

PubMed Central

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

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

2014-01-01

125

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

126

AUTISM WITH OPHTHALMOLOGIC MALFORMATIONS: THE PLOT THICKENS  

PubMed Central

ABSTRACT Purpose To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. Methods In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother’s pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt Results In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Conclusion Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome. PMID:15747750

Miller, Marilyn T; Stromland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher

2004-01-01

127

Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature  

Microsoft Academic Search

We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality\\u000a characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset\\u000a growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition,\\u000a he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the\\u000a cerebral

Hiroshi Kawame; Yoko Sugio; Yuichi Fuyama; Yoshihiro Hayashi; Hideaki Suzuki; Kenji Kurosawa; Kihei Maekawa

1999-01-01

128

Proteus Syndrome  

Microsoft Academic Search

\\u000a Proteus syndrome (OMIM # 176920) (OMIM™ 2005), a rare and highly variable congenital hamartomatous disorder (Gorlin et al. 2001), is a member of a group designated as local “overgrowth diseases ” (Cohen et al. 2002). It consists of asymmetric (mosaic), disproportionate and progressive overgrowth of body parts, connective tissue nevi,\\u000a epidermal nevi, dysregulated adipose tissue, vascular and lymphatic malformations, and

Martino Ruggieri; Ignacio Pascual-Castroviejo

129

Embolization of Arteriovenous Malformation  

PubMed Central

Summary Treatment options for cerebral arteriovenous malformation (AVM) are still controversial due to the recent result of stereotactic radiosurgery and the improved result of microsurgical resection. We investigated previously treated AVM cases and discussed the efficacy and safety of preoperative embolization especially for microsurgical resection of high-grade AVM in the Spetzler-Martin grading. Efficacy of preoperative embolization was evaluated based on 126 previously treated AVM cases at Shinshu University Hospital during the last 25 years. The safety of embolization was evaluated based on our previously-embolized 58 AVM cases (91 procedures) in the last 11 years after introduction of preoperative embolization for AVM. In all 126 cases, 82 were treated before introduction of embolization and 44 were treated after introduction of embolization. In 82 cases of the pre-embolization era, 63 lesions were removed totally in 63 AVMs (77%), partially resected in 11 (13%) and untreated in eight (10%). In 74 surgically removed cases, 11 (15%) cases showed severe intra/postoperative bleeding. In 44 cases of the embolization era, lesions were removed totally in 29 AVMs (66%), disappeared only with embolization in one (2%), disappeared with radiosurgery in seven (16%) and were untreated in five (11%). In 32 surgically removed cases, only one (2%) case showed severe intra/postoperative bleeding. In all 58 embolized cases, 44 were surgically removed, six were treated with radiosurgery, one was eliminated with embolization alone and six were partially obliterated and followed up for their location. In 91 procedures for 58 cases, two haemorrhagic and three ischemic complications occurred, three were transient and two remained having neurological deficits. The introduction of preoperative embolization improved the total removal rate and reduced the intra/postoperative bleeding rate in surgical removal of AVM. The total risk of embolization is low and well-designed preoperative embolization makes surgical resection safer even in high-grade AVM in the Spetzler-Martin grading. PMID:20587250

Nagashima, H.; Hongo, K.; Kobayashi, S.; Takamae, T.; Okudera, H.; Koyama, J.I.; Oya, F.; Matsumoto, Y.

2004-01-01

130

Meckel and Joubert Syndromes  

Microsoft Academic Search

\\u000a Both Meckel (Gruber) syndrome (MKS; MIM 249000) and Joubert syndrome and related disorders (JSRD; MIM 213300) are rare, autosomal\\u000a recessive genetic disorders that share congenital malformations of the posterior fossa or the hindbrain and are associated\\u000a with defects in the structure and\\/or the function of the primary cilium. The cardinal features of Meckel syndrome include\\u000a the triad of brain anomalies

Melissa A. Parisi; Laura S. Finn; Ian A. Glass

131

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

2014-01-01

132

Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review.  

PubMed

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 search of studies describing neurodevelopmental outcomes of cerebellar malformations between January 1997 and December 2007. Overall, the data suggested that children with isolated inferior vermis hypoplasia (IVH) and mega cisterna magna (MCM) have a good developmental outcome, whereas children with molar tooth sign/Joubert syndrome, vermis hypoplasia, pontocerebellar hypoplasia (PCH) type II, and cerebellar agenesis experience moderate to severe global developmental delays. Reports for Dandy-Walker malformation (DWM) were conflicting; however, the presence of a normally lobulated vermis and the absence of associated brain anomalies were associated with a more favourable outcome. Finally, children with isolated cerebellar hypoplasia experienced fewer impairments. Important methodological limitations highlighted include a lack of standardized outcome measure use in 79% of studies and the predominant use of retrospective study designs (85%), with 40% limited to case reports or case-series. In summary, rigorous outcome studies describing the spectrum of disabilities in survivors are urgently needed to accurately delineate the long-term neurodevelopmental consequences of cerebellar malformations. PMID:19191827

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-04-01

133

[Coexistence of Crouzon syndrome with ventricular septal defect].  

PubMed

The authors present the features of Crouzon syndrome and describe presently 17-year-old girl suffering from this syndrome coexisting with congenital heart malformation (ventricular septal defect, successfully surgically treated). We were not able to find any description of such congenital malformations coexistence in the accessible literature. PMID:14526492

Rokicki, W?adys?aw; Rokicka, Anna

2003-01-01

134

[Arteriovenous malformation in the mandibula].  

PubMed

A 15-year-old autistic boy of subnormal intelligence appeared at the office of his dental practitioner complaining about pain in the third quadrant. Investigation revealed that the second molar could be intruded easily. No other irregularities, such as caries or periodontal disease were apparent. Due to the severe pain it was decided that the tooth should be extracted. Extraction of the tooth induced massive bleeding. Hemostasis was achieved by repositioning the molar in its alveolus, according to the principle of putting a cork in a bottle. Radiographic investigation showed the presence of an intraosseous arteriovenous malformation. These malformations are potentially life-threatening lesions. Treatment of choice is a combination of transarterial embolization and surgical removal of the malformation. PMID:17715775

Kruizinga, E H W; Meijer, G J; Koole, R; van Es, R J J

2007-07-01

135

Glioblastoma Mimicking an Arteriovenous Malformation  

PubMed Central

Abnormal cerebral vasculature can be a manifestation of a vascular malformation or a neoplastic process. We report the case of a patient with angiography-negative subarachnoid hemorrhage (SAH) who re-presented 3?years later with a large intraparenchymal hemorrhage. Although imaging following the intraparenchymal hemorrhage was suggestive of arteriovenous malformation, the patient was ultimately found to have an extensive glioblastoma associated with abnormal tumor vasculature. The case emphasizes the need for magnetic resonance imaging to investigate angiography-negative SAH in suspicious cases to rule out occult etiologies, such as neoplasm. We also discuss diagnostic pitfalls when brain tumors are associated with hemorrhage and abnormal vasculature. PMID:24137154

Khanna, Arjun; Venteicher, Andrew S.; Walcott, Brian P.; Kahle, Kristopher T.; Mordes, Daniel A.; William, Christopher M.; Ghogawala, Zoher; Ogilvy, Christopher S.

2013-01-01

136

Glioblastoma mimicking an arteriovenous malformation.  

PubMed

Abnormal cerebral vasculature can be a manifestation of a vascular malformation or a neoplastic process. We report the case of a patient with angiography-negative subarachnoid hemorrhage (SAH) who re-presented 3?years later with a large intraparenchymal hemorrhage. Although imaging following the intraparenchymal hemorrhage was suggestive of arteriovenous malformation, the patient was ultimately found to have an extensive glioblastoma associated with abnormal tumor vasculature. The case emphasizes the need for magnetic resonance imaging to investigate angiography-negative SAH in suspicious cases to rule out occult etiologies, such as neoplasm. We also discuss diagnostic pitfalls when brain tumors are associated with hemorrhage and abnormal vasculature. PMID:24137154

Khanna, Arjun; Venteicher, Andrew S; Walcott, Brian P; Kahle, Kristopher T; Mordes, Daniel A; William, Christopher M; Ghogawala, Zoher; Ogilvy, Christopher S

2013-01-01

137

Arteriovenous malformation of the pancreas.  

PubMed

Pancreatic arteriovenous malformation (PAVM) is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented. PMID:21765845

Charalabopoulos, Alexandros; Macheras, Nikolas; Krivan, Sylvia; Petropoulos, Konstantinos; Misiakos, Evangelos; Macheras, Anastasios

2011-01-01

138

Rectorragía en el Síndrome de Klippel-Trenaunay- Weber: Presentación de un caso Rectorrage in the Klippel-Trenaunay-Weber syndrome: A case presentation  

Microsoft Academic Search

Klippel Trenaunay Weber Syndrome (KTWS) is a rare congenital vascular disorder, characterized by capillary malformations, venous malformations, capilary hemangioma or lymphangioma and the presence of hipertrophy of soft and bone tissue. A strange complication of this syndrome is the rescthorrage associated to colonic malformations. On next it is described a fifteen year old-black child case, who consults children's Hospital Club

Pedro Felipe Parra Velasco; Gonzalo Guerra; Abdelayis Yusef

139

Clinical Features: Rett syndrome [OMIM #312750] is a progressive neurodevelopmental disorder, primarily affecting females.  

E-print Network

, primarily affecting females. Classic Rett syndrome is characterized by acquired microcephaly, loss FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum

Das, Soma

140

Radiosurgery for Cerebral Arteriovenous Malformations  

Microsoft Academic Search

From September 1991 to May 1997, a total of 59 patients diagnosed with cerebral arteriovenous malformations were treated using radiosurgery. There were 29 men and 30 women, with an age range of 5 to 75 years (mean 36). Of these patients, 39 patients were treated using a LINAC-based system (group 1) and 20 using the Leksell ?-knife unit (group 2).

Lucia Zamorano; Amgad Matter; Laurie Caspar; Arturo Saenz; Razvan Buciuc; James Fontanesi; Azucena Garzon; Fernando Diaz

1998-01-01

141

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

142

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

143

Arteriovenous Malformation of the Oral Cavity  

PubMed Central

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

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

2014-01-01

144

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

Microsoft Academic Search

A pregnant woman presented with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) and a single pulmonary arteriovenous malformation (AVM) that had been embolized 5 years previously. Partly due to pregnancy, recanalization of the aneurysm occurred with subsequent hemoptysis. Despite successful therapeutic reembolization of the afferent pulmonary artery, hemoptysis recurred 5 days later. At this time, recanalization of the pulmonary artery was not

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

1996-01-01

145

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

146

The value of screening for multiple arterio-venous malformations in hereditary hemorrhagic telangiectasia: a diagnostic study  

Microsoft Academic Search

Occult visceral arterio-venous malformations (AVMs) may be a constant threat to patients suffering from hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome (M. ROW). HHT patients predominantly become symptomatic through chronic, recurrent epistaxis, a symptom that can alert physicians at an early stage of the disease. The purpose of this study was to investigate whether occult, visceral arterio-venous malformations

Benedikt J. Folz; Ana Cerra Wollstein; Heiko Alfke; Anja A. Dünne; Burkard M. Lippert; Konrad Görg; Hans-Joachim Wagner; Siegfried Bien; Jochen A. Werner

2004-01-01

147

Surgical management of a high-flow arteriovenous malformation of the upper extremity producing severe hemodynamic impairment  

Microsoft Academic Search

Peripheral arteriovenous (AV) malformations may present with a plethora of clinical symptoms such as paradoxical emboli, severe hypertension, nerve palsies or pain syndromes. Hemodynamically compromising lesions of the limbs are rare and involve high-flow AV fistulae with marked arteriovenous shunting. A female patient with a high-flow arteriovenous malformation of the left upper-extremity is presented. Preoperative assessment by magnetic resonance imaging

E. Polykandriotis; C. Böhner; R. Hess; U. Kneser; H. Seyhan; B. Loos; A. Bach; J. Kopp; R. E. Horch

2004-01-01

148

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

149

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).

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

2014-01-01

150

Cerebellar arteriovenous malformations in children  

Microsoft Academic Search

We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM).\\u000a This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques.\\u000a All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the\\u000a study had MRI. Of the

P. D. Griffiths; S. Blaser; D. Armstrong; S. Chuang; R. P. Humphreys; D. Harwood-Nash

1998-01-01

151

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

152

Cerebral arteriovenous malformations in children  

Microsoft Academic Search

The treatment of cerebral arteriovenous malformations (AVM) or vascular anomalies are challenging neurosurgical procedures\\u000a for an anaesthetist. Large AVMs are uncommon in children. Only 18% of AVMs become symptomatic before the age of 15 yr. This\\u000a series reviews the experience at this institution during the period of 1982 to 1992. The symptoms at the time of presentation\\u000a are varied and

Carol Millar; Bruno Bissonnette; R. P. Humphreys

1994-01-01

153

Endovascular Treatment of Arteriovenous Malformation  

Microsoft Academic Search

Vascular anomalies are common congenital or neonatal abnormalities. According to the approved classification of vascular lesions\\u000a by Glowacki and Mulliken, hemangiomas and vascular malformations are distinguishable. Hemangiomas usually appear during the\\u000a first days or weeks after birth and grow faster than the whole body of the infant. They are proliferating benign tumors that\\u000a often involute. The opposite of hemangiomas, vascular

Robert Juszkat; Bartosz ?abicki; Pawe? Ch?ci?ski; Marcin Gabriel; Nawal Matar

2009-01-01

154

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

PubMed

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

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

2014-04-01

155

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

156

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

PubMed Central

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

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

2012-01-01

157

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

158

Genetics Home Reference: Cerebral cavernous malformation  

MedlinePLUS

... Information Center Information about genetic conditions and rare diseases Additional NIH Resources ... cavernous malformations are collections of small blood vessels (capillaries) in the brain that are enlarged and ...

159

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

160

Chiari II Malformation and Occult Spinal Dysraphism  

Microsoft Academic Search

We report two cases of children with occult spinal dysraphism who were also found to have many associated brain anomalies seen in the Chiari II malformation. No previous report has commented on the possible association between the Chiari II malformation and the ‘closed’ form of neural tube defect. One child had symptoms referable to pathology at the craniocervical junction. Neither

R. Shane Tubbs; John C. Wellons III; Paul A. Grabb; W. Jerry Oakes

2003-01-01

161

[Ureteral triplication whitout other associates malformations].  

PubMed

We report a case of ureteral type III triplication according to Smith's classification, without associated anomalies of the urinary tract. The revision of the bibliography indicates the rarity of this maldformacion and its frequent association with other urinary and extraurinary malformations. The absence of associate malformations in this case increases his exceptionality. PMID:19537075

Diz Rodríguez, Ramón; Arance Gil, Ignacio; Vírseda Chamorro, Miguel; Quijano Barroso, Pablo; Alpuente Román, Carlos; Sáenz Benito, Domingo

2009-03-01

162

The Chiari II Malformation: A Surgical Series  

Microsoft Academic Search

Thirty patients between the ages of 7 months and 24 years were treated surgically for symptomatic Chiari II malformation at the Arkansas Children’s Hospital. All patients underwent at least bony decompression of the malformation. Assessments of the patients’ conditions were made at 6 weeks and 1 year after surgery, and complications of surgery were noted. For a majority of the

Charles Teo; Erik C. Parker; Sharon Aureli; Frederick A. Boop

1997-01-01

163

Congenital bronchopulmonary foregut malformations: concepts and controversies  

Microsoft Academic Search

This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions

Beverley Newman

2006-01-01

164

Cornelia de Lange syndrome.  

PubMed

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. We present here a case of newborn male who presented with the complaints of feed regurgitation, choking and cyanosis. There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism. The patient was diagnosed as having Cornelia de Lange syndrome on the recognition of distinctive facial features in addition to the pre- and postnatal growth retardation, feeding problems and physical malformations including limb defects. PMID:22630109

Noor, Nida; Kazmi, Zehra; Mehnaz, Ayesha

2012-06-01

165

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

PubMed Central

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

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

2011-01-01

166

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; Loffler, J; Bereuther, L; Fischer, H; Utermann, B; Utermann, G

1997-01-01

167

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

Demirdoven, Mehmet; Yazgan, Hamza; Korkmaz, Mevlit; Gebesce, Arzu; Tonbul, Alparslan

2014-01-01

168

Genetics Home Reference: Branchio-oculo-facial syndrome  

MedlinePLUS

... neck, malformations of the eyes and ears, and distinctive facial features. "Branchio-" refers to the branchial arches, which are ... Problems with development of the face lead to distinctive facial features in people with branchio-oculo-facial syndrome. Many ...

169

A casuistic report on the Gruber or Meckel syndrome  

Microsoft Academic Search

A case of Meckel or Gruber syndrome is reported, together with a survey of the relevant literature of recent years (1971–1977), in reference to a probably autosomal recessive inheritance of this malformation.

P. Altmann; P. Wagenbichler; A. Schaller

1977-01-01

170

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

171

Systemic supply to a pulmonary arteriovenous malformation: Potential explanation for recurrence  

Microsoft Academic Search

A pregnant woman presented with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) and a single pulmonary\\u000a arteriovenous malformation (AVM) that had been embolized 5 years previously. Partly due to pregnancy, recanalization of the\\u000a aneurysm occurred with subsequent hemoptysis. Despite successful therapeutic reembolization of the afferent pulmonary artery,\\u000a hemoptysis recurred 5 days later. At this time, recanalization of the pulmonary artery was not

Jean-François De Wispelaere; Jean-Paul Trigaux; Patrick Weynants; Monique Delos; Béatrice De Coene

1996-01-01

172

Early neurologic complications of pulmonary arteriovenous malformation in a newborn: an indication for surgical resection  

Microsoft Academic Search

A case report of a neonate with pulmonary arteriovenous malformation is described. The anomaly was prenatally diagnosed, and family history was positive for Rendu-Osler-Weber syndrome.Because neurologic symptoms developed during the second week of life, surgical resection was deemed the best curative option to avoid further embolic events and reoccurrence of the lesion. Previous reports detailing coil embolization therapy for pulmonary

Alessandro Borsellino; Claudio Giorlandino; Saverio Malena; Alessandro Trucchi; Roberta Cilio; Piero Bagolan

2006-01-01

173

Hereditary haemorrhagic telangiectasia with pulmonary arteriovenous malformations: a treatable cause of thromboembolic cerebral events  

Microsoft Academic Search

Hereditary haemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome is associated with mucocutaneous telangiectases and iron deficiency anaemia caused by epistaxis or blood loss from the gastrointestinal tract. We describe a 41-year-old Chinese man who presented with amaurosis fugax secondary to emboli from pulmonary arteriovenous malformations associated with HHT. He was diagnosed with the disorder in adolescence but follow-up in the outpatient

J K C Yoong; M M Htoo; V Jeyaseelan

174

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, Jose Mendes

2013-01-01

175

Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes.  

PubMed

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; Araujo Júnior, Edward; Drummond, Carolina Leite; Nardozza, Luciano Marcondes Machado; Moron, Antonio Fernandes; Aldrighi, José Mendes

2013-01-01

176

MR imaging of fetal brain malformations  

Microsoft Academic Search

MethodsFrom the generally accepted data on the morphogenesis of the brain, the principles for the classification of brain malformations are given, and the salient features of each malformation which may be considered as independent from the developmental stage and therefore practical for MR imaging in the fetus after mid-gestation, are discussed.Results and discussionHowever, the correlation with the clinical results in

Charles Raybaud; Olivier Levrier; Hervé Brunel; Nadine Girard; Philippe Farnarier

2003-01-01

177

Interdisciplinary management of craniofacial vascular malformations  

Microsoft Academic Search

Beside their sometimes unsightly appearance, vascular malformations of the head and neck area can lead to very severe functional\\u000a problems. Reduced field of vision and impairments in breathing and swallowing can occur and are serious problems to deal with.\\u000a During the last 4 years, 17 patients with vascular malformations of the head and neck region were treated in our department.\\u000a Initially,

H. Kubiena; M. Cejna; S. Kreuzer; E. Frey; M. Schoder; M. Frey

2007-01-01

178

Surgical Management of Patients with Chiari I Malformation  

PubMed Central

Chiari malformations (CMs) constitute a variety of four mainly syndromes (I, II, III, and IV), which describe the protrusion of brain tissue into the spinal canal through the foramen magnum. These malformations frequently occur in combination with other pathological entities such as myelomeningocele, hydrocephalus, and/or hydrosyringomyelia. The recent improvement of imaging techniques has increased not only the rate of CM diagnosis but also the necessity for its early treatment. Several different surgical techniques have been employed in the treatment of patients with symptomatic CM-I. In our current study, a systematic and critical review of the pertinent literature was made for identifying the most commonly employed surgical procedures in the management of these patients. Emphasis was given in outlining the advantages and disadvantages of each surgical approach. Moreover, an attempt was made for defining those parameters that may be prognostic factors for their surgical outcome. There is a consensus that surgical treatment is reserved only for symptomatic patients with CM-I. It has also been postulated that early surgically intervention is usually associated with better outcome. Despite the large number of previously published clinical series, further clinical research with large-scale studies is necessary for defining surgical treatment guidelines in these patients. PMID:22811732

Siasios, John; Kapsalaki, Eftychia Z.; Fountas, Kostas N.

2012-01-01

179

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, Tomas; Vigo, Rodolfo; Iacouzzi, Sebastian; Premoli, Jorge

2014-01-01

180

Joubert Syndrome and related disorders  

Microsoft Academic Search

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay\\/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD range between 1\\/80,000 and 1\\/100,000 live births, although these figures may represent an underestimate. The

Francesco Brancati; Bruno Dallapiccola; Enza Maria Valente

2010-01-01

181

Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).  

PubMed Central

Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely. Images PMID:8933348

Mingarelli, R; Castriota Scanderbeg, A; Dallapiccola, B

1996-01-01

182

Klippel-Trenaunay Syndrome  

Microsoft Academic Search

Klippel-Trenaunay syndrome is characterised by (a) combined vascular malformations of the capillary, venous, and lymphatic\\u000a types, (b) varicosities of unusual distribution, in particular a lateral venous anomaly observed during infancy or childhood,\\u000a and (c) limb enlargement with limb asymmetry (Berry et al. 1998; Cohen 2000, 2002, 2006; Cohen et al. 2002; Gorlin et al. 2001; Huang and Creath 1994).

Martino Ruggieri; Concezio Di Rocco; Orhan Konez

183

Treacher Collins syndrome.  

PubMed

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. It is a congenital malformation of first and second branchial arch which may affect the size and shape of the ears, eyelids, cheek bones, and jaws. The extent of facial deformity varies from one affected individual to another. A case of 20-year-old boy having TCS is briefly described in this article. PMID:22144845

Shete, Prachi; Tupkari, Jv; Benjamin, Tabita; Singh, Aarti

2011-09-01

184

Median facial cleft in amniotic band syndrome.  

PubMed

Amniotic band syndrome manifests at birth with a variety of malformations ranging from constriction ring to defects incompatible to life, in various parts of the body. Although some theories have been proposed for the development of this syndrome, the exact cause remains unknown. The median facial cleft is an extremely rare manifestation of amniotic band syndrome with a relative paucity of reports available in the literature. Here, we report one such case. PMID:21731335

Das, Debabrata; Das, Gobinda; Gayen, Sibnath; Konar, Arpita

2011-04-01

185

Coarctation of the aorta in Kabuki syndrome.  

PubMed Central

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 coarctation occurs with a frequency of 25%. Images PMID:8048822

Hughes, H E; Davies, S J

1994-01-01

186

Cornelia De Lange Syndrome: A Case Report  

Microsoft Academic Search

Cornelia de Lange syndrome (CdLS) is a rare syndrome characterized by multiple congenital anomalies, mental retardation, characteristic facial appearance, developmental delay, skeletal malformation, hirsutism, and various cardiac and ophthalmological problems. The diagnosis of this syndrome is clinical. The patient of the present case report was the second case of CdLS from Iran; only a few cases of CdLS have thus

Mohammad Yousef; Aarabi Moghaddam; Hojatollah Mortezaian; Seyed Reza Miri

187

Middle and inner ear malformations in two siblings exposed to valproic acid during pregnancy: A case report.  

PubMed

Valproic acid (VPA) is a known teratogenic drug. Exposure to VPA during the pregnancy can lead to a distinct facial appearance, a cluster of major and minor anomalies and developmental delay. In this case report, two siblings with fetal valproate syndrome and a mild conductive hearing loss were investigated. Radiologic evaluation showed middle and inner ear malformations in both children. Audiologic, vestibular and motor examination was performed. This is the first case report to describe middle and inner ear malformations in children exposed to VPA. PMID:25216807

Van Houtte, Evelyne; Casselman, Jan; Janssens, Sandra; De Kegel, Alexandra; Maes, Leen; Dhooge, Ingeborg

2014-11-01

188

Surgical treatment for venous malformation.  

PubMed

Sclerotherapy is generally the preferred treatment for venous malformation (VM) with surgery usually playing an adjunctive role. This study presents our experience with surgical treatment of VMs. Consecutive patients were identified from our vascular anomalies database 1996-2011 and patient demographics, location of the lesion, type of tissue(s) affected and symptoms were analysed. The patients completed a questionnaire to assess the impact of surgery on the severity of symptoms, appearance, function and overall quality of life (QoL), using a visual analogue scale of 0 (no symptom) to 10 (maximal symptom). They also rated their overall satisfaction of treatment using a scale of 0 (complete dissatisfaction) to 10 (complete satisfaction). Fifty patients with VM underwent a total of 58 procedures. Complication occurred in six patients (9.7% of operations), including transient sensory loss (n=3) and permanent frontal branch palsy (n=1), haematoma formation (n=1) and minor wound dehiscence (n=1). At least 50% improvement in symptoms of background pain, acute episodic pain, contour deformity and skin discolouration occurred in 88.9%, 92.3%, 83.3% and 75.0% of patients, respectively. At least 50% improvement in the appearance, function and overall QoL occurred in 54.3%, 71.4% and 70.4% of patients, respectively. The mean overall patient satisfaction with the treatment was 8.9 (range, 1-10). Surgery remains an important treatment modality for selected patients with VM having low complication rates and high patient satisfaction. It improves the appearance, function and overall QoL for the majority of the patients by reducing the severity of pain, contour deformity and skin discolouration. PMID:24012651

Steiner, Frederica; FitzJohn, Trevor; Tan, Swee T

2013-12-01

189

Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations.  

PubMed

We identified four girls with a consistent constellation of facial dysmorphism and malformations previously reported in a single mother-daughter pair. Toe syndactyly, telecanthus and anogenital and renal malformations were present in all affected individuals; thus, we propose the name 'STAR syndrome' for this disorder. Using array CGH, qPCR and sequence analysis, we found causative mutations in FAM58A on Xq28 in all affected individuals, suggesting an X-linked dominant inheritance pattern for this recognizable syndrome. PMID:18297069

Unger, Sheila; Böhm, Detlef; Kaiser, Frank J; Kaulfuss, Silke; Borozdin, Wiktor; Buiting, Karin; Burfeind, Peter; Böhm, Johann; Barrionuevo, Francisco; Craig, Alexander; Borowski, Kristi; Keppler-Noreuil, Kim; Schmitt-Mechelke, Thomas; Steiner, Bernhard; Bartholdi, Deborah; Lemke, Johannes; Mortier, Geert; Sandford, Richard; Zabel, Bernhard; Superti-Furga, Andrea; Kohlhase, Jürgen

2008-03-01

190

[High flow vascular malformations in children].  

PubMed

Unlike hemangiomas and low-flow vascular malformations which are very common in children, arterial anomalies have small incidence. Differential diagnosis is difficult, and needs a physician familiarized with vascular anomalies. Appropriate treatment must be planned by multidisciplinary team considering the patient's age, and anatomical location. Twenty-eight children with high flow vascular malformations have been treated since 1990 at La Paz Children's Hospital Vascular Anomalies Program. We excluded of the study group patients with central nervous system lesions. 85% of the patients had malformation in stage I or II (according the ISSVA accepted Schöbinger stating) and most of them were erroneously diagnosed as hemangioms with a variety of inappropriate treatments previously performed. Doppler Ultrasound and Magnetic Resonance confirmed malformation flow and extension. Angiography and selective embolization was only considered as therapeutic approach in candidates to surgical resection. 16 patients underwent complete resection of the malformation including one foot and two fingers amputation and five more incomplete resection of the ulcerate area. In conclusion, we did not find age at onset, sex and symptoms relationship. Laser, radiotherapy, surgical ligation or partial resection must be considered inappropriate therapies which may stimulate AVM exacerbation. Only radical surgical procedure after selective endovascular embolization will be successful but then reconstructive surgery should be performed to achieve good aesthetic and functional results. PMID:12601971

López Gutiérrez, J C; Ros, Z; Martínez, L; Díaz, M; Leal, N; Rivas, S; Hernández, F

2002-10-01

191

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, Francois; Ibarz, Jose M.; Francis, Fiona; Menendez de la Prida, Liset

2014-01-01

192

Treacher collins syndrome.  

PubMed

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

2012-05-01

193

Noonan Syndrome  

PubMed Central

Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available. PMID:24444506

BHAMBHANI, VIKAS; MUENKE, MAXIMILIAN

2014-01-01

194

Noonan syndrome.  

PubMed

Noonan syndrome is a common autosomal dominant condition, readily recognisable in childhood. It is characterised by a pattern of typical facial dysmorphism and malformations including congenital cardiac defects, short stature, abnormal chest shape, broad or webbed neck, and a variable learning disability. Mildly affected adults may not be diagnosed until the birth of a more obviously affected child. The phenotype is highly variable. Important progress in understanding the molecular basis of this and other related conditions was made in 2001 when germline mutations in the PTPN11 gene were found to account for ?50% of cases. Since then, mutations in additional genes in the rat sarcoma (RAS) pathway have been identified in a proportion of the remainder. Molecular confirmation of diagnosis is now possible for many families and has become increasingly important in guiding management. Increased awareness by paediatricians will lead to earlier diagnosis, and provide patients and their families with accurate genetic counselling, including options when planning pregnancy. PMID:21771153

Turner, Anne M

2014-10-01

195

Ethanol sclerotherapy of rectal venous abnormalities in Klippel–Trenaunay syndrome  

PubMed Central

Klippel–Trenaunay syndrome (KTS) is a rare congenital disorder characterized by the triad of capillary malformations, atypical venous malformations and varicosities and bony and/or soft tissue hypertrophy. We present the case of an 18-year-old man with KTS affected by haematochezia secondary to rectal venous malformations that was managed with endoscopic sclerotherapy. In this case, we compared the use of ethanol to phenol as a sclerosant. PMID:25141856

Agostinho, Nelson; Ge, Ludi; Solomon, Michael J.

2014-01-01

196

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

197

Congenital malformations and testicular germ cell tumors  

PubMed Central

Cryptorchidism is one of the few known risk factors for testicular germ cell tumors (TGCT). It has been postulated that other congenital malformations, in particular hypospadias, are also associated with increased risk; however, associations with birth defects have not been extensively studied. Using Swedish population-based registries we evaluated the relationship between birth defects and risk of TGCT. TGCT cases (n=6,593) diagnosed between 15 and 65 years of age were identified from the Swedish Cancer Registry between 1964 and 2008. Five controls per case were randomly selected from the population register and matched on birth year and birth county. Congenital malformations were identified via linkage with the Hospital Discharge Register. Odds ratios (OR) and 95% confidence intervals (CI) for the association between each group of malformations and TGCT were estimated using conditional logistic regression. In addition to the expected association between cryptorchidism and TGCT risk [OR (95% CI): 3.18 (2.50 to 4.04)], hypospadias [2.41 (1.27 to 4.57)], inguinal hernia [1.37 (1.11–1.68)] and other genital malformations [2.19 (1.17 to 4.10)] were associated with an increased risk of TGCT. Mutual adjustment for cryptorchidism, hypospadias, inguinal hernia, and other genital malformations did not appreciably change the associations (ORs: 3.16; 2.25; 1.30; 1.90, respectively). The other (non-genital) malformations evaluated were not associated with TGCT. These data suggest that developmental urogenital abnormalities, specifically cryptorchidism, hypospadias, and inguinal hernia, are associated with an increased risk of TGCT; further supporting the hypothesis that prenatal exposure(s) related to proper genital development are related to this tumor. PMID:23580254

Trabert, Britton; Zugna, Daniela; Richiardi, Lorenzo; McGlynn, Katherine A; Akre, Olof

2014-01-01

198

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

199

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

200

Hypoplastic left heart syndrome in PAGOD syndrome.  

PubMed

Chromosomal abnormalities as well as non-cardiac anomalies have been identified as independent risk factors for surgical morbidity and mortality in Fontan palliation. The combination of malformations consisting of pulmonary hypoplasia, agonadism (sex reversal), omphalocele, and diaphragmatic defect is compatible with pulmonary artery and lung hypoplasia, agonadism, omphalocele, and diaphragmatic defect (PAGOD). Most cases have been associated with cardiac disease, particularly hypoplastic left heart syndrome (HLHS) that is potentially destined for Fontan palliation. Reported herein is the case of a Japanese female infant diagnosed with PAGOD syndrome along with HLHS (mitral atresia and aortic atresia), in whom intractable respiratory failure manifested as bilateral eventration of the diaphragm and presumed right lung hypoplasia. These characteristic pulmonary lesions associated with the syndrome precluded use of the Fontan pathway. PMID:24894929

Takahashi, Kazuhiro; Miyake, Akira; Nakayashiro, Mami

2014-06-01

201

Jacobsen syndrome  

PubMed Central

Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has been estimated at 1/100,000 births, with a female/male ratio 2:1. The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, short nose, v-shaped mouth, small ears, low set posteriorly rotated ears). Abnormal platelet function, thrombocytopenia or pancytopenia are usually present at birth. Patients commonly have malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system and skeleton. Ocular, hearing, immunological and hormonal problems may be also present. The deletion size ranges from ~7 to 20 Mb, with the proximal breakpoint within or telomeric to subband 11q23.3 and the deletion extending usually to the telomere. The deletion is de novo in 85% of reported cases, and in 15% of cases it results from an unbalanced segregation of a familial balanced translocation or from other chromosome rearrangements. In a minority of cases the breakpoint is at the FRA11B fragile site. Diagnosis is based on clinical findings (intellectual deficit, facial dysmorphic features and thrombocytopenia) and confirmed by cytogenetics analysis. Differential diagnoses include Turner and Noonan syndromes, and acquired thrombocytopenia due to sepsis. Prenatal diagnosis of 11q deletion is possible by amniocentesis or chorionic villus sampling and cytogenetic analysis. Management is multi-disciplinary and requires evaluation by general pediatrician, pediatric cardiologist, neurologist, ophthalmologist. Auditory tests, blood tests, endocrine and immunological assessment and follow-up should be offered to all patients. Cardiac malformations can be very severe and require heart surgery in the neonatal period. Newborns with Jacobsen syndrome may have difficulties in feeding and tube feeding may be necessary. Special attention should be devoted due to hematological problems. About 20% of children die during the first two years of life, most commonly related to complications from congenital heart disease, and less commonly from bleeding. For patients who survive the neonatal period and infancy, the life expectancy remains unknown. PMID:19267933

Mattina, Teresa; Perrotta, Concetta Simona; Grossfeld, Paul

2009-01-01

202

Segmental colonic motility in patients with anorectal malformations  

Microsoft Academic Search

Background: Constipation is one of the most important functional sequelae in patients with anorectal malformations. The cause of this motility disorder is unknown. Aim: The purpose of this study was to assess total colonic transit time (TCT) and segmental colonic transit time (SCT) in patients with anorectal malformations. Method: Ninety patients with anorectal malformations (40 low and 50 high; median

R. J Rintala; E Marttinen; K Virkola; M Rasanen; C Baillie; H Lindahl

1997-01-01

203

The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child.  

PubMed

The Niikawa-Kuroki "Kabuki Make-Up" syndrome is a rare sporadic malformation syndrome, characterised by severe psychomotor and growth retardation, peculiar facies, including long palpabral fissures and large malformed ears and skeletal abnormalities. We report a 2-year-old Moslem Arab boy with 28 of the 32 originally described features of this syndrome and in addition with hyperelastic joints, hypospadias and scaphocephaly which were not previously described in association with the Kabuki make-up syndrome. This is the fifth reported case of this syndrome in a non-Japanese patient, and the second reported case in a patient of Arab descent. PMID:2282718

Gillis, R; Klar, A; Gross-Kieselstein, E

1990-11-01

204

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

205

Obstetric complications and congenital malformation in schizophrenia  

Microsoft Academic Search

Recent years have witnessed increasingly intense research activity concerning early life somatic trauma and dysmorphogenesis which are associated with the later development of schizophrenia. The two somatic factors that have received the most extensive scientific attention as antecedents of schizophrenia are obstetric complications (OCs) and the congenital malformations termed `minor physical anomalies' (MPAs). Head circumference (HC) at birth has also

Thomas F McNeil; Elizabeth Cantor-Graae; Baher Ismail

2000-01-01

206

Differential Gene Expression in Human Cerebrovascular Malformations  

PubMed Central

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

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

2009-01-01

207

Atypical Presentations in Chiari II Malformation  

Microsoft Academic Search

Myelomeningocele with Chiari II malformation and hydrocephalus is a common association seen in infants with a congenital failure of neurulation. Here we report two cases of such an association presenting with different sets of problems. The first patient presented with severe inspiratory stridor due to bilateral abductor vocal cord paralysis, which was relieved completely within 24 h of definitive surgery.

G. P. Rath; P. K. Bithal; A. Chaturvedi

2006-01-01

208

Split Cord Malformations of the Lumbar Region  

Microsoft Academic Search

From a group of 84 patients with split cord malformations presenting to our Department between 1976 and 1990, we have selected 47 cases in whom the split cord was confined to the lower dorsal-lumbar region and in whom there were no other dysraphic features such as meningocele, lipoma or dermoid cyst. We have studied these cases of ‘pure split cord

U. B Andar; W. F. J. Harkness; R. D. Hayward

1997-01-01

209

Pancreatic arteriovenous malformation with duodenal ulcer  

Microsoft Academic Search

Summary We report the color Doppler ultrasonography features of arteriovenous malformation (AVM) of the pancreas, a very rare disease. The patient was a 52-year-old man with congenital AVM of the pancreas and a duodenal ulcer that had been resistant to medication. Endoscopic color Doppler ultrasonography (color Doppler EUS) revealed many abnormal color signals showing pulsatile wave form at the portion

Shigeo Tano; Norio Ueno; Tomio Ueno; Shin-Ichi Wada; Toshiyuki Aizawa; Ken Kimura

1996-01-01

210

Body growth in urinary tract malformations  

Microsoft Academic Search

Body height and height velocity were analysed in 54 children with obstructive urinary tract malformations over a mean period of 8.7 years, using new auxological methods. At the time of diagnosis, 9% of patients had a height of more than 2 standard deviations below the normal mean. Mean relative height changed significantly from the first to the last observation, the

C. Seidel; F. Schaefer; K. Schärer

1993-01-01

211

NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome  

E-print Network

, David J. Harris12 , Heather Ferguson13 , Chantal Kelly13 , Christopher A. Walsh12,14,15 , Richard M of Pediatrics, Wayne State University, Detroit, Michigan, United States of America, 9 Department of Neurosurgery

Gronostajski, Richard M.

212

Two Cases of Walker-Warburg Syndrome Complicated by Hydrocephalus  

Microsoft Academic Search

Walker-Warburg syndrome is a very rare autosomal recessive disorder with congenital muscular dystrophy, brain malformations on the basis of a neuronal migration defect and ocular abnormalities. We report our experience in treating two cases of Walker-Warburg syndrome complicated by hydrocephalus with shunting and endoscopic techniques.

M. Preuss; M. Heckmann; M. Stein; U. Nestler

2010-01-01

213

Teunissen-Cremers syndrome: a clinical, surgical, and genetic report  

Microsoft Academic Search

OBJECTIVE: To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome. DESIGN: Case series. SETTING: Tertiary referral center. BACKGROUND: The NOG gene encodes the protein noggin, which has antagonist action in osteogenesis. Malformation of bones and joints may result from defects in noggin. Teunissen-Cremers syndrome is caused by mutations in the

H. H. Weekamp; J. M. J. Kremer; L. H. Hoefsloot; A. M. Kuijpers-Jagtman; J. R. M. Cruysberg; C. W. R. J. Cremers

2005-01-01

214

Self-reported sleep and breathing disturbances in Joubert syndrome  

Microsoft Academic Search

Joubert syndrome is a rare autosomal recessive disease characterized by malformation of the cerebellar vermis, hypotonia, developmental delay, and respiratory variability. Since little is known about sleep and ventilatory dysregulation in this patient population, a questionnaire was distributed at the Joubert Syndrome and Related Disorders Foundation Conference. This questionnaire addressed respiratory and sleep abnormalities and included the Pediatric Sleep Questionnaire.

Biren B. Kamdar; Preeya Nandkumar; Vidya Krishnan; Charlene E. Gamaldo; Nancy A. Collop

215

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

216

A case of Cornelia de Lange syndrome from Sudan  

Microsoft Academic Search

BACKGROUND: Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. CASE PRESENTATION: Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a case of malnutrition.

Mona Ellaithi; David Gisselsson; Therese Nilsson; Atif Elagib; Imad Fadl-Elmula; Mashair Abdelgadir

2007-01-01

217

A 6-year experience treating vascular malformations with foam sclerotherapy.  

PubMed

In this study, the authors present an analysis of the outcomes of 105 low-flow vascular malformation patients treated over a 6-year period and report specific lesion characteristics that correlate with those vascular malformations that will benefit from sodium tetradecyl sulfate foam sclerotherapy (STS FS) versus surgical resection as well as morphological characteristics of vascular malformations that are associated with a poor response to FS treatment. Improvement in symptoms was documented in 92.9% of patients treated with STS FS. There were no complications. Low-flow vascular malformations that were morphologically characterized by microcystic, septated vessels did not respond to FS, and these vascular malformations are best treated with surgical resection. Primary surgical resection is also the treatment of choice for localized, microcystic, and superficial low-flow vascular malformations. Symptomatic, diffuse, extensive, macrocystic malformations that involve multiple tissue planes and vital structures are best treated with FS. PMID:22918935

Markovic, Jovan N; Kim, Charles Y; Lidsky, Michael E; Shortell, Cynthia K

2012-06-01

218

[Craniofacial malformations in prenatal ultrasound evaluation. Literature review].  

PubMed

Fetal face is the key anatomical location, both psychologically and clinically for the mother and the clinician. Ultrasound prenatal examination of the maxillofacial region allows to evaluate the fetal face in the first weeks of gestation. In ambulatory intravaginal ultrasound, sensitivity of the facial defect detection is 20-30% in cases without the risk of TORCH and fetal abnormalities, which may arouse suspicion of the presence of facial malformation. Facial defects form a wide group of pathologies. Unfortunately challenges connected with 2D and 3D ultrasound imaging cause frequent misdiagnoses in early gestation. Maxillofacial abnormalities can be solitary or they can coexist with other abnormalities or syndromes. In case of detecting a facial defect, a precise and thorough ultrasound of whole fetal body is necessary whereas in case of detecting any fetal body abnormality a precise and thorough ultrasound examination of the fetal face is obligatory Unfortunately most contemporary prenatal ultrasound standards propose only the overall "face and orbits" evaluation of the fetal face. The evaluation is difficult at 23 and 24 weeks of gestation and seems to be rather challenging in the third trimester of gestation. Not only facial malformations but also facial dimorphic features may lead to the suspicion of genetic syndrome and they may be extremely important in making correct diagnosis. Attempts at standardization in fetal face ultrasound evaluation have proved to be extremely difficult. Advantages of 2D ultrasound over 3D ultrasound and 3D ultrasound over 2D ultrasound in fetal face evaluation have been a topic of much debate. Most typically fetal face is examined with 2D ultrasound in a few basic planes: coronary sagittal, frontal and oblique. The planes preferred in the evaluation of facial structures are discussed in details in the paper Fetal facial defects evaluated in the ultrasound examination may be divided into a few main groups: examination of the orbit and eyeball defects, examination of the external nose and nasal cavity defects, examination of the cleft defects involving the lip, hard and soft palate which may be unilateral or bilateral, examination of external ear defects, examination of mandibular defects and detection of fetal tumors. 3D ultrasound evaluation of the fetal face is extremely useful in visualization of the face, thus presenting a problem to parents and clinicians. Prenatal ultrasound examination provides necessary and extremely useful data concerning fetal facial abnormalities, which allows to plan care and further treatment including interventions in pediatric ENT, pediatric surgery and plastic surgery areas. Cooperation of ultrasound diagnostician and clinicians taking care of a child in the future is therefore necessary when designing treatment scheme in cases of fetal facial defects. PMID:24191520

Zieli?ski, Rafa?; Respondek-Liberska, Maria

2013-09-01

219

Septo-optic dysplasia with cerebellar hypoplasia in Cornelia de Lange syndrome  

Microsoft Academic Search

Little is known about the neuropathology of Cornelia de Lange syndrome. We report a unique type of cerebral malformation\\u000a combined with Cornelia de Lange syndrome in a 5-year-old female child. At autopsy, the optic systems, hypothalamic nuclei,\\u000a corpus callosum and cerebellar vermis were hypoplastic, and the septum pellucidum, fornix and anterior commissure were rudimentary.\\u000a The brain had malformative features of

M. Hayashi; K. Sakamoto; K. Kurata; J. Nagata; J. Satoh; Y. Morimatsu

1996-01-01

220

[Morphological alterations of oto-mandibular syndromes].  

PubMed

Otomandibular dysplasia is a congenital malformation defined by a certain degree of temporomandibular or pterygomandibular hypoplasia. The syndrome is characterised by the variability of clinical findings, but the three major features are auricular, mandibular and maxillary hypoplasia. All the laterofacial structures may be affected. The deformity is usually unilateral but bilateral cases exist; a lot of associated malformations have been described. Multiple classification systems have been published. Some of them are very complex, but it is possible to define a simple diagnostic diagram based on ethiopathogenic data. Bilateral involvement affects predominantly the zygoma, and concerns hereditary syndromes. When the mandibular hypoplasia is evident Franceschetti or Goldenhar syndrome is suspected; otherwise Treacher-Collins syndrome is probable. Unilateral cases are not, in general, hereditary and the hypoplasia predominates on the mandible. The difference between hemifacial microsomia or mandibular dysplasia is made by the presence of associated laterofacial deformities. PMID:11770456

Bettega, G; Morand, B; Lebeau, J; Raphaël, B

2001-10-01

221

Cervical spine in Treacher Collins syndrome.  

PubMed

Treacher Collins syndrome is a congenital syndrome with characteristic craniofacial malformations, which are well described in the literature. However, the presence of cervical spine dysmorphology in this syndrome has been minimally described. This study reviews cervical spine radiographs of 40 patients with Treacher Collins syndrome. In this sample, 7 of 40 patients displayed cervical spine anomalies, with 3 of these patients displaying multiple cervical spine anomalies. The patterns of spinal anomalies were variable, suggesting that the underlying genetic mutation has variable expressivity in cervical spine development as it does elsewhere in the craniofacial skeleton. PMID:22627438

Pun, Amy Hoi-Ying; Clark, Bruce Eric; David, David John; Anderson, Peter John

2012-05-01

222

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

SciTech Connect

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

Wispelaere, Jean-Francois De; Trigaux, Jean-Paul [Department of Radiology, Cliniques Universitaires UCL de Mont-Godinne, B-5530 Yvoir (Belgium); Weynants, Patrick [Department of Pneumology, Cliniques Universitaires UCL de Mont-Godinne, B-5530 Yvoir (Belgium); Delos, Monique [Department of Pathology, Cliniques Universitaires UCL de Mont-Godinne, B-5530 Yvoir (Belgium); Coene, Beatrice De [Department of Radiology, Cliniques Universitaires UCL de Mont-Godinne, B-5530 Yvoir (Belgium)

1996-04-15

223

Embolization and radiosurgery for arteriovenous malformations  

PubMed Central

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

Plasencia, Andres R.; Santillan, Alejandro

2012-01-01

224

Bronchopulmonary foregut malformations: embryology, radiology and quandary  

Microsoft Academic Search

.  Bronchopulmonary foregut malformations (BPFM) are a heterogeneous group of pulmonary developmental anomalies that present\\u000a at varying ages and with overlapping symptoms, signs and radiology. This article discusses the embryology of these lesions\\u000a with reference to possible common origins and the link between aetiology and radiological appearance. The radiology of each\\u000a lesion, both antenatally and postnatally, is described and illustrated. A

N. A. Barnes; D. W. Pilling

2003-01-01

225

Spontaneous resolution of isolated Chiari I malformation  

Microsoft Academic Search

Introduction  Spontaneous resolution of Chiari I abnormality is very rare. In most patients, the radiological abnormality either stays unchanged with time or deriorates.Case report  We present a male patient who was diagnosed at the age of 18 months as having radiological evidence of Chiari I malformation without syringomyelia, which had resolved 5 years later on a subsequent MR scan. At the time

N. S. Jatavallabhula; J. Armstrong; S. Sgouros; W. Whitehouse

2006-01-01

226

Epilepsy in type 1 Chiari malformation  

Microsoft Academic Search

In patients with Chiari malformation type 1 (CMI), epileptic seizures are occasionally reported both in symptomatic patients\\u000a candidate to surgery and in patients without symptoms of tonsillar displacement in whom CM1 is often an incidental finding\\u000a in the diagnostic work up for idiopathic epilepsies. In both groups of patients, the course of epilepsy is almost invariably\\u000a favorable, with a few

Tiziana GranataLaura; Laura Grazia Valentini

227

Dandy-Walker malformation: An incidental finding  

PubMed Central

Dandy–Walker malformation (DWM) is a rare intracranial congenital abnormality that affects the cerebellum and some of its components; particularly cerebellar vermis, fourth ventricle and is characterized by an enlarged posterior fossa. Although there is an extensive list of signs attributed to DWM, final diagnosis is solely dependent on imaging techniques as there are no signs that are characteristic of DWM. This article reports a case with DWM who was diagnosed by magnetic resonance imaging. PMID:20838490

Tadakamadla, Jyothi; Kumar, Santhosh; Mamatha, G. P.

2010-01-01

228

Osler-Weber-Rendu Syndrome — Dental Implications  

Microsoft Academic Search

Osler-Weber-Rendu syndrome (OWRS) is a rare hereditary, autosomal dominant disease characterized by a local angiodysplasia. Its clinical characteristics are vascular hamarto - mas of the skin and oral mucosa, arteriovenous malformations in the lungs, liver, kidney and brain, and episodes of epistaxis. The oral lesions, which become apparent through hemorrhagic telangiectasia, may be the first sign of the disease. This

Marina Helena Magalhães; Dre Fernandes

229

Das oro-facio-digitale Syndrom  

Microsoft Academic Search

The oro-facial-digital syndrome (OFD) is documented by 12 personal observations. The frequency of the symptoms is given in a table based upon a review of all cases up to 1971. Attention is focussed on malformations of the brain, which were found in one fifth of all cases, and on polycystic anomalies of the kidney seen in 5 out of 7

F. Majewski; W. Lenz; R. A. Pfeiffer; W. Tünte; H. Müller

1972-01-01

230

Joubert syndrome (and related disorders) (OMIM 213300)  

Microsoft Academic Search

Joubert syndrome (JS) and related disorders are characterized by the ‘molar tooth sign’ (cerebellar vermis hypoplasia and brainstem anomalies) on MRI, hypotonia, developmental delay, ataxia, irregular breathing pattern and abnormal eye movements. Combinations of additional features such as polydactyly, ocular coloboma, retinal dystrophy, renal disease, hepatic fibrosis, encephalocele, and other brain malformations define clinical sub-types. Recent identification of the NPHP1,

Melissa A Parisi; Dan Doherty; Phillip F Chance; Ian A Glass

2007-01-01

231

[Treacher-Collins-syndrome (author's transl)].  

PubMed

The Treacher-Collins syndrome is characterised by an anti-mongoloid slant of the eyes, hypoplasia of the facial bones, in particular the the mandible, and malformations of the external and middle ear with hearing loss. Early diagnosis of hearing defects is of prime importance as nowadays suitable treatment can prevent the resulting delay in speech development and secondary intellectual retardation. PMID:593281

Schober, E; Götz, M; Scheibenreiter, S

1977-11-01

232

Neuroembryology and brain malformations: an overview.  

PubMed

Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication. PMID:23622157

Sarnat, Harvey B; Flores-Sarnat, Laura

2013-01-01

233

Gynecologic concerns in patients with anorectal malformations.  

PubMed

Children with anorectal malformations (ARMs) constitute a significant group within a pediatric surgery practice. In females, the most common ARM is an imperforate anus with a rectovestibular fistula, followed by an imperforate anus with a rectoperineal fistula and then cloacal anomalies. Some malformations, such as an imperforate anus with a rectovestibular fistula, may seem straightforward, treated with a posterior sagittal anorectoplasty; however, it is vital to recognize the association with gynecologic anomalies. Girls with the most complex anorectal defect, cloacal malformation, have significant associated urological and gynecologic anomalies, which should be recognized and treated. An opportunity to diagnose and treat such anomalies may be missed in the newborn period or at the definitive surgery, unless the pediatric surgeon is aware of this association. With the knowledge of the associated anomalies and long-term sequelae, surgeons can provide better care for girls and important counseling for parents. Important gynecologic issues to consider may be divided into several categories, such as infancy, puberty, sexual intimacy, and obstetrical concerns. Knowledge of reproductive-related issues in females with ARMs allows the pediatric surgeon and their gynecology colleagues to provide optimal surgical management throughout infancy, childhood, and into young adulthood. Appropriate counseling for patients and families about potential reproductive concerns that may develop many years after the definitive surgical repair allows preparation and planning to preserve future fertility. PMID:20307850

Breech, Lesley

2010-05-01

234

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.

235

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

PubMed Central

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

2009-01-01

236

The diagnostic value of MRI fistulogram and MRI distal colostogram in patients with anorectal malformations.  

PubMed

Contrast fistulogram (FG) and distal pressure colostogram (DPCG) are standard diagnostic methods for the assessment of anorectal malformations. Pelvic magnetic resonance imaging (MRI) earned a place among essential diagnostic methods in preoperative investigations after the Currarino syndrome and a high incidence of associated spinal dysraphism were described. The aim of our study was to evaluate the possibility of substituting FG and DPCG by a modified pelvic MRI, e.g. MRI fistulogram (MRI-FG) and MRI colostogram (MRI-DPCG). The prospective study involved 29 patients with anorectal malformations who underwent a modified pelvic MRI. The length and course of fistulas and rectum, and the presence of sacral anomalies were studied on MRI images and compared with images obtained by radiologic examinations. Modified MRI brought identical results as contrast studies in 25 patients when related to the fistula and rectum length and course. MRI was more accurate for the detection of sacral anomalies. MRI-FG was the only imaging method used in the four most recent patients. The results support the assumption that conventional contrast examinations for the assessment of anorectal malformations can be replaced by MRI, thus reducing the radiation dose. PMID:23932626

Kavalcova, Lucie; Skaba, Richard; Kyncl, Martin; Rouskova, Blanka; Prochazka, Ales

2013-08-01

237

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

238

Anorectal Malformations: Finding the Pathway out of the Labyrinth.  

PubMed

Anorectal malformations (ARMs) are a complex group of congenital anomalies involving the distal anus and rectum, as well as the urinary and genital tracts in a significant number of cases. Most ARMs result from abnormal development of the urorectal septum in early fetal life. In most cases, the anus is not perforated and the distal enteric component ends blindly (atresia) or as a fistula into the urinary tract, genital tract, or perineum. ARMs are also present in a great number of syndromes and associations of congenital anomalies. The classification of ARMs is mainly based on the position of the rectal pouch relative to the puborectal sling, the presence or absence of fistulas, and the types and locations of the fistulas. All of this information is crucial in determining the most appropriate surgical approach for each case. Imaging studies play a key role in evaluation and classification of ARMs. In neonates, clinical and radiologic examinations in the first 3 days of life help determine the type of ARM and the need for early colostomy. In older children, preoperative pelvic magnetic resonance imaging is the most efficient diagnostic method for evaluating the size, morphology, and grade of development of the sphincteric musculature. PMID:23479709

Alamo, Leonor; Meyrat, Blaise J; Meuwly, Jean-Yves; Meuli, Reto A; Gudinchet, François

2013-01-01

239

Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes  

Microsoft Academic Search

Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is a syndrome characterized by multiorgan telangiectases\\u000a and arteriovenous malformations. A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping\\u000a syndrome of HHT and juvenile polyposis (JPS). We present one such family. Genetic testing is warranted when either HHT or\\u000a JPS is diagnosed, as early recognition of

Erica D. Poletto; Angela M. Trinh; Terry L. Levin; Anthony M. Loizides

2010-01-01

240

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; Andres, Vivian; Campillo Betancourt, Daine

2014-01-01

241

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

242

Marfan's syndrome: an overview.  

PubMed

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

Yuan, Shi-Min; Jing, Hua

2010-12-01

243

Cleft palate in Williams syndrome.  

PubMed

Williams-Beuren syndrome (WBS) is a genomic neurodevelopmental disorder, estimated to occur in approximately 1 in 10,000 persons. It is caused by a deletion of the "elastin" gene on chromosome 7q11.23 and was described officially in 1961 by Williams, Barrat-Boyes, and Lowe. Cleft palate is not considered in the medical literature as a part of the multisystem disorders of the Williams syndrome but it was yet described. We present our experience of a patient who presents cleft palate among other congenital malformations. PMID:23662266

Domenico, Scopelliti; Orlando, Cipriani; Graziana, Fatone Flavia Maria; Papi, Piero; Giulia, Amodeo

2013-01-01

244

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing  

Microsoft Academic Search

We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing.There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about

Romeo Carrozzo

2001-01-01

245

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

246

Stereotactic radiosurgery of intracranial arteriovenous malformations.  

PubMed

Stereotactic radiosurgery for intracranial arteriovenous malformations (AVMs) has been performed since the 1970s. When an AVM is treated with radiosurgery, radiation injury to the vascular endothelium induces the proliferation of smooth muscle cells and the elaboration of extracellular collagen, which leads to progressive stenosis and obliteration of the AVM nidus. Obliteration after AVM radiosurgery ranges from 60% to 80%, and relates to the size of the AVM and the prescribed radiation dose. The major drawback of radiosurgical AVM treatment is the risk of bleeding during the latent period (typically 2 years) between treatment and AVM thrombosis. PMID:24093574

Friedman, William A

2013-10-01

247

The pediatric Chiari I malformation: a review  

Microsoft Academic Search

Background  Both the diagnosis and treatment regimens for the Chiari I malformation (CIM) are varied and controversial. The present paper\\u000a analyzes the literature regarding this form of hindbrain herniation in regard to definition, anatomy, pathobiology, symptoms,\\u000a findings, treatment, and outcomes.\\u000a \\u000a \\u000a \\u000a Discussions  Appropriate literature germane to the CIM is reviewed and discussed. There is variation in the reported anatomy, outcome,\\u000a and treatment for

R. Shane Tubbs; Michael J. Lyerly; Marios Loukas; Mohammadali M. Shoja; W. Jerry Oakes

2007-01-01

248

Surgical management of pediatric cerebral arteriovenous malformations  

Microsoft Academic Search

Background  Arteriovenous malformations (AVMs) are the most common cause of intracerebral hemorrhage in children. Different options exist\\u000a for their successful management consisting of surgery, endovascular embolization, stereotactic radiosurgery, or a combination\\u000a of these treatments.\\u000a \\u000a \\u000a \\u000a \\u000a Discussion  In this paper, we discuss the different treatment modalities in the treatment of pediatric cerebral AVMs emphasizing the role\\u000a of surgery and endovascular embolization as a preoperative

David Rubin; Alejandro Santillan; Jeffrey P. Greenfield; Mark Souweidane; Howard A. Riina

2010-01-01

249

Toward postnatal reversal of ocular congenital malformations.  

PubMed

Aniridia is a panocular disorder that severely affects vision in early life. Most cases are caused by dominantly inherited mutations or deletions of the PAX6 gene, which encodes a transcription factor that is essential for the development of the eye and the central nervous system. In this issue of the JCI, Gregory-Evans and colleagues demonstrate that early postnatal topical administration of an ataluren-based formulation reverses congenital malformations in the postnatal mouse eye, providing evidence that manipulation of PAX6 after birth may lead to corrective tissue remodeling. These findings offer hope that ataluren administration could be a therapeutic paradigm applicable to some major congenital eye defects. PMID:24355915

Sahel, José-Alain; Marazova, Katia

2014-01-01

250

[Pelvic arteriovenous malformation : a case report].  

PubMed

A 70-year-old male presented with intermittent macroscopic hematuria. There was no history of previous trauma or pelvic operation. At first, we were unable to clarify the origin of the hematuria, but 3D computed tomography revealed an arteriovenous malformation (AVM) consisting of multiple feeding vessels arising from the bilateral, especially right, internal iliac artery. Treatment with transcatheter arterial embolization (TAE) with a combination of lipiodol and N-butyl-2-cyanoacrylate twice was effective. He needs to be followed up carefully for recurrence of AVM. PMID:23945325

Suzuki, Kotaro; Kusuda, Yuji; Yamada, Yuji; Nose, Ryuichiro; Matsui, Takashi; Sanda, Yuki; Mori, Takeki; Sugimoto, Koji

2013-07-01

251

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity.  

PubMed

Familial cerebral cavernous malformation (CCM) is an autosomal dominant disorder producing vascular anomalies throughout the central nervous system associated with seizures and hemorrhagic stroke. Linkage analysis has shown evidence for at least three genetic loci underlying this disorder with a founder mutation in the Mexican/Hispanic community. We report the first family of Chinese ethnic origin with CCM having a novel mutation in the CCM1 gene. The mutation in exon 19 causes a premature stop codon (Q698X) predicted to produce a truncated Krev1 interaction-trapped 1 (KRIT1) protein. Members of the family with this mutation have a wide range in age of onset with seizures, ataxia, spinal cord vascular malformation, headaches and skin lesions. An additional unrelated sporadic subject with brain lesions compatible with CCM as well as vascular skin findings suggesting the blue rubber bleb nevus (BRBN) syndrome has no mutation detected in the CCM1 gene. These findings expand the phenotype of and demonstrate further evidence for the heterogeneity in the CCM syndrome. PMID:11959162

Chen, Dong-Hui; Lipe, Hillary P; Qin, Zhen; Bird, Thomas D

2002-04-15

252

Ivemark's "asplenia" syndrome: a single gene disorder.  

PubMed

Congenital heart defects as a group represent a significant proportion of congenital malformations. Most are isolated and multifactorially determined; a relatively small proportion are due to a single gene defect, and result in an increased risk of recurrence among first-degree relatives. We have reported the cases of three male siblings with Ivemark's "asplenia" syndrome to support an autosomal recessive mode of inheritance. We have stressed the importance of early recognition of mendelian disorders with associated cardiac malformations to provide meaningful counseling regarding prognosis, medical management, and risk of recurrence. PMID:2799452

McChane, R H; Hersh, J H; Russell, L J; Weisskopf, B

1989-10-01

253

Scanning electron microscopic studies on floral malformation in mango  

Microsoft Academic Search

Studies with scanning electron microscope in mango variety Amrapali revealed the presence of many hair line cracks, pin-sized to large holes, disorganised cells and fungal mycelial infection at the base of the malformed bud during bud-inception stages. Among other possible reasons, tissue damage caused by the fungi and sucking pests may lead to the abnormal development of the malformed tissues.

K. Usha; A. M. Goswami; H. C. Sharma; Bhupinder Singh; P. C. Pande

1997-01-01

254

History, anatomic forms, and pathogenesis of Chiari I malformations  

Microsoft Academic Search

IntroductionChiari I malformations constitute a group of entities of congenital or acquired etiology that have in common descent of the cerebellar tonsils into the cervical spinal canal. In recent years, since the advent of magnetic resonance imaging, an increasing number of asymptomatic, doubtfully symptomatic, and minimally symptomatic patients with Chiari I malformations have been diagnosed. This has resulted in controversy

Edgardo Schijman; C. Durand

2004-01-01

255

The ear and its malformations: strange beliefs and misconceptions  

Microsoft Academic Search

Objective. To explore the strange beliefs and misconceptions related to the ear and its malformations, and how these have changed from ancient times until today.Methods. Ancient documents, journal articles, and history books were studied to research ancient and current beliefs and misconceptions with regard to the ear and its malformations.Results. The ear has been the centre of various beliefs and

Irene E Gamatsi; Thomas P Nikolopoulos; Dimitra E Lioumi

2003-01-01

256

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

257

Abernethy malformation with portal vein aneurysm in a child  

PubMed Central

Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. We describe multidetector computed tomography findings of an incidentally detected Abernethy malformation with portal vein aneurysm in a two-and-half-year old child. The computed tomography scan was performed for the evaluation of respiratory distress, poor growth, and loss of appetite. PMID:21430844

Chandrashekhara, Sheragaru H.; Bhalla, Ashu Seith; Gupta, Arun Kumar; Vikash, C. S.; Kabra, Susheel Kumar

2011-01-01

258

Counseling pregnant women treated with paroxetine Concern about cardiac malformations  

Microsoft Academic Search

QUESTION I have always reassured my patients that taking selective serotonin reuptake inhibitors (SSRIs) during pregnancy would not increase their risk of having children with major malformations. A recent warning from Health Canada, based on results of a study from GlaxoSmithKline, stated that infants exposed to paroxetine might be at higher risk of congenital malformations, specifi cally cardiovascular defects. Some

Adrienne Einarson; Gideon Koren

259

Surgical Treatment of Chiari I Malformation, with Preservation of Arachnoid  

Microsoft Academic Search

Objective: The author describe the results of performing a standard posterior craniovertebral decompression and duroplasty, with preservation of arachnoid layer, for the treatment of patients with symptomatic chiari I malformation with and without syringomyelia Patients and methods: This is a retrospectively analyzed series of ten patients with symptomatic chiari I malformation underwent surgical treatment from June 2003 to January 2007.

Alaa A. Farag

2007-01-01

260

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

261

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

262

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

PubMed Central

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

Miller, M T; Stromland, K

1992-01-01

263

Fryns syndrome phenotype and trisomy 22  

SciTech Connect

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

Ladonne, J.M.; Gaillard, D.; Carre-Pigeon, F.; Gabriel, R. [INSERM, Reims (France)] [INSERM, Reims (France)

1996-01-02

264

Approche psychologique de la malformation congénitale de la main.La malformation congénitale, le désir de savoir  

Microsoft Academic Search

The psychological approach to congenital malformation is determined by the stares of the others and the individual?s needs. The relationship of the body of the person afflicted with a congenital malformation is a question of aesthetic suffering and not of functional use. Caught up in a network of a priori and anxiety- based projections, it is difficult for patients, children,

A. Didierjean-Pillet

2002-01-01

265

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

266

Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.  

PubMed

Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3-4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down's syndrome. There is a high incidence of both anterior and posterior spina bifida of the atlas in patients with metabolic disorders, such as Morquio's syndrome [Baraitser and Winter in London dysmorphology database, Oxford University Press, 2005; Torriani, Lourenco in Rev Hosp Clin Fac Med Sao Paulo 53: 73-76, 2002]. We report two siblings and their mother, with congenital, persistent torticollis, plagiocephaly, facial asymmetry, grooved tongues, and asymptomatic "dolicho-odontoid process". All are of normal intelligence. No associated Neurological dysfunction, paresis, apnoea, or failures to thrive were encountered. Radiographs of the cervical spine were non-contributory, but 3D CT scanning of this area allowed further visualisation of the cervico-cranial malformation complex in this family and might possibly explain the sudden early juvenile mortality. Agenesis of the posterior arch of the atlas and bifidity/clefting of anterior arch of the atlas associated with asymptomatic "dolicho-odontoid process" were the hallmark in the proband and his female sibling. Some of the features were present in the mother. All the family subjects were investigated. To the best of our knowledge the constellation of malformation complex in this family has not been previously reported. PMID:17245565

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

2007-12-01

267

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

268

[The hand: embryology and main malformative mechanisms].  

PubMed

Upper limb bud appears in the cervical region of the embryo during the fifth week of development. It is made of epithelia and underlying mesenchyme. Diffusible growth factors, expressed by the apical ectodermal ridge, direct the proximal-distal growth. Other factors are expressed by zone of polarizing activity and ectoderm. They induce together anterior-posterior growth and dorsal-ventral polarity of the limb bud. The development of axial skeleton pattern is controlled by transcription factors from the HOX family, which are expressed in a stripe along the proximal and distal edges of the limb bud. Embryologic mechanisms of the main hand malformations are described, as well as their known genetic or mechanical aetiologies. PMID:18838286

Perrin, J; Geoffroy-Siraudin, C; Metzler-Guillemain, C

2008-12-01

269

Familial Dandy-Walker malformation and leukodystrophy.  

PubMed

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. The parents were first cousins, suggesting autosomal recessive transmission. MRI showed Dandy-Walker variant in the girl, with cerebellar vermis hypoplasia and expansion of the cisterna magna, which communicated with the fourth ventricle. Her brother had mega cisterna magna communicating with the fourth ventricle and a normal cerebellum. The 2 children had abnormally high signal in the supratentorial white matter. Visual and auditory evoked potentials revealed prolonged latencies. Motor and sensory conduction velocities were normal. Muscle and nerve biopsies were normal. Metabolic exploration demonstrated no abnormality. PMID:9258968

Humbertclaude, V T; Coubes, P A; Leboucq, N; Echenne, B B

1997-05-01

270

Development of a fetal rabbit model to study amniotic band syndrome.  

PubMed

Amniotic band syndrome (ABS) is a group of fetal malformations caused by fibrous adherences. Species such as sheep, rats, and mice have been used to study this syndrome. We developed a fetal rabbit model using 24 fetuses from punctured uteri. We found one case of syndactyly, one case of amniotic banding, two cases of extremity deformities, one case of a tail deformity, one case of head compression, and one case of open eyelids. Other malformations have been described in an amnion rupture sequence model (exencephaly and cleft palate). The rabbit fetus is an adequate model in which to develop this syndrome. PMID:22432900

Galvan, Alfonso; Alvarez, Elizabeth; Parraguirre, Sara; Suarez, Ma Lourdes; Perez, Araceli

2012-10-01

271

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

272

Results of Norwood's operation for lesions other than hypoplastic left heart syndrome  

Microsoft Academic Search

Norwood's operation provides satisfactory palliation for neonates with hypoplastic left heart syndrome. The dominant physiologic features of hypoplastic left heart syndrome, ductal dependency of the systemic circulation and parallel pulmonary and systemic circulations, are shared by a multitude of other less common congenital heart malformations. Theoretically, these should be equally amenable to palliation by Norwood's operation. Between January 1990 and

Marshall L. Jacobs; Jack Rychik; John D. Murphy; Susan C. Nicolson; James M. Steven; William I. Norwood

1995-01-01

273

Valve Pressure Upgrade May Produce Progressive Deterioration of Vision in Children with Slit Ventricle Syndrome  

Microsoft Academic Search

Recently, valve upgrade and\\/or endoscopic third ventriculostomy, which have the merit of no additional shunting, were introduced for the treatment of slit ventricle syndrome, because lumboperitoneal shunting entails various complications including development of Chiari malformation, shunt malfunction, and infection. However, the safety of valve upgrading is not confirmed, especially in a child with slit ventricle syndrome developed as a result

Seoung Woo Park; Soo Han Yoon; Ki Hong Cho; Yong Sam Shin

2007-01-01

274

Neuropathological analysis of an adult case of the Cornelia de Lange syndrome  

Microsoft Academic Search

Cornelia de Lange syndrome (CDLS) is a rare multisystemic malformative syndrome of uncertain etiology characterized by severe psychomotor and mental retardation. Here we report the neuropathological analysis of a 35-year-old patient who displayed the classical clinical symptomatology of CDLS. A congenital dysgenesis of the brain was evident including abnormal convolution patterns of the cerebral gyri, frontal lobe hypoplasia and focal

Nicolas Vuilleumier; Enikö Kövari; Agnès Michon; Patrick R. Hof; Georges Mentenopoulos; Panteleimon Giannakopoulos; Constantin Bouras

2002-01-01

275

Usefulness of Electron Beam Computed Tomography in Children With Heterotaxy Syndrome  

Microsoft Academic Search

Children with heterotaxy syndrome frequently have complex cardiac and noncardiac malformations requiring detailed diagnostic evaluation for management planning. Direct delineation of these structures by electron beam computed tomography (EBCT) is validated as a means of diagnosis. From July 1995 to March 1997, 32 patients (16 girls, 16 boys) with clinically impressed heterotaxy syndrome were enrolled in this study. After evaluation

Shyh-Jye Chen; Yiu-Wah Li; Jou-Kou Wang; Mei-Hwan Wu; Ing-Sh Chiu; Chung-I Chang; Shu-Chiang Hsieh; Chen-Tau Su; Jane Chien-Yao Hsu; Hung-Chi Lue

1998-01-01

276

Laparoscopic excision of a retroperitoneal lymphatic malformation in a newborn.  

PubMed

Abdominal lymphatic malformations may be challenging to eradicate. Retroperitoneal lesions may more difficult to resect than mesenteric ones; however, the latter may predispose to intestinal volvulus, leading to calls for their prompt excision. Such lesions identified perinatally may pose particular challenges: in one case, respiratory failure caused by abdominal distension required emergency drainage followed by later laparoscopic excision; laparoscopy has also been used promptly to diagnose and resect neonatal mesenteric lymphatic malformations with their inherent volvulus risk. We illustrate that even if neonatal laparoscopy identifies a retroperitoneal rather than mesenteric lymphatic malformation, curative endosurgical excision remains feasible. PMID:21292064

Solari, Valeria; Mullassery, Dhanya; Lansdale, Nick; Jesudason, Edwin C

2011-02-01

277

Neurosurgical management of congenital malformations of the brain.  

PubMed

Congenital malformations encompass a diverse group of disorders that often present at birth, either as the result of genetic abnormalities, infection, errors of morphogenesis, or abnormalities in the intrauterine environment. Congenital disorders affecting the brain are now often diagnosed before delivery with the use of prenatal ultrasonography. Over the past several decades, there have been major advances in the understanding and management of these conditions. This review focuses on the most common cranial congenital malformations, limiting the discussion to the neurosurgically relevant aspects of arachnoid cysts, pineal cysts, Chiari malformations, and encephaloceles. PMID:21807319

Hervey-Jumper, Shawn L; Cohen-Gadol, Aaron A; Maher, Cormac O

2011-08-01

278

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

279

Complex malformations of the female genital tract. New types and revision of classification  

Microsoft Academic Search

BACKGROUND: Complex malformations of the female genital tract are often incorrectly identified, treated and reported, probably due to not considering the malformation as a cause of the clinical symptoms and neither the embryological origin of the different elements of the genitourinary tract. METHODS: Complex malformations are studied and classified, and new types are presented. The new types of complex malformations

Pedro Acien; Maribel Acien; Marisa Sanchez-Ferrer

280

The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.  

PubMed

The RASopathies are a class of developmental syndromes. Each of them exhibits distinctive phenotypic features, although there are numerous overlapping clinical manifestations that include: dysmorphic craniofacial features, congenital cardiac defects, skin abnormalities, varying degrees of intellectual disability and increased risk of malignancies. These disorders include: Noonan syndrome, Costello syndrome, LEOPARD syndrome, cardio-facio-cutaneous syndrome (CFC), capillary malformation-arteriovenous malformation syndrome (CM-AVM), Legius syndrome and neurofibromatosis type 1 (NF1). The RASopathies are associated with the presence of germline mutation in genes encoding specific proteins of the RAS/mitogen - activated protein kinase (MAPK) pathway that plays a crucial role in embryonic and postnatal development. In this review, we present the clinical and molecular features of selected syndromes from the RASopathies group. PMID:25182392

Bezniakow, Natalia; Gos, Monika; Obersztyn, Ewa

2014-01-01

281

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

PubMed

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

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

2013-10-10

282

Mechanisms of cerebellar tonsil herniation in patients with Chiari malformations as guide to clinical management  

PubMed Central

Background The pathogenesis of Chiari malformations is incompletely understood. We tested the hypothesis that different etiologies have different mechanisms of cerebellar tonsil herniation (CTH), as revealed by posterior cranial fossa (PCF) morphology. Methods In 741 patients with Chiari malformation type I (CM-I) and 11 patients with Chiari malformation type II (CM-II), the size of the occipital enchondrium and volume of the PCF (PCFV) were measured on reconstructed 2D-CT and MR images of the skull. Measurements were compared with those in 80 age- and sex-matched healthy control individuals, and the results were correlated with clinical findings. Results Significant reductions of PCF size and volume were present in 388 patients with classical CM-I, 11 patients with CM-II, and five patients with CM-I and craniosynostosis. Occipital bone size and PCFV were normal in 225 patients with CM-I and occipitoatlantoaxial joint instability, 55 patients with CM-I and tethered cord syndrome (TCS), 30 patients with CM-I and intracranial mass lesions, and 28 patients with CM-I and lumboperitoneal shunts. Ten patients had miscellaneous etiologies. The size and area of the foramen magnum were significantly smaller in patients with classical CM-I and CM-I occurring with craniosynostosis and significantly larger in patients with CM-II and CM-I occurring with TCS. Conclusions Important clues concerning the pathogenesis of CTH were provided by morphometric measurements of the PCF. When these assessments were correlated with etiological factors, the following causal mechanisms were suggested: (1) cranial constriction; (2) cranial settling; (3) spinal cord tethering; (4) intracranial hypertension; and (5) intraspinal hypotension. PMID:20440631

Nishikawa, Misao; Kula, Roger W.; Dlugacz, Yosef D.

2010-01-01

283

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

284

Foix-alajouanine syndrome presenting as acute cauda equina syndrome: a case report.  

PubMed

Study Design?Case report. Objective?Present a case of Foix-Alajouanine syndrome that presented as acute cauda equina syndrome and discuss the pathophysiology and management. Methods?An adult male patient developed sudden onset of back pain and leg pain with weakness of the lower limbs and bladder/bowel dysfunction typical of cauda equina syndrome. Emergency magnetic resonance imaging revealed no compressive lesion in the spine but showed tortuous flow voids and end-on blood vessels in the peridural region suggesting spinal arteriovenous malformation resulting in Foix-Alajouanine syndrome. Results?The case was managed by endovascular embolization with excellent results. The pathophysiology, imaging features, management, and literature review of the syndrome is discussed. Conclusion?The authors conclude that this condition may be an important differential diagnosis for cauda equina syndrome. PMID:25396108

Menon, K Venugopal; Sorour, Tamer M M; Raniga, Sameer B

2014-12-01

285

[Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].  

PubMed

Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications. PMID:21465061

Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

2011-04-01

286

Cloacal malformations: lessons learned from 490 cases.  

PubMed

In this review we describe lessons learned from the authors' series of patients born with the most complex of congenital anorectal problems, cloacal malformations, with the hope to convey the improved understanding and surgical treatment of the condition's wide spectrum of complexity learned from patients cared for over the last 25 years. This includes a series of 490 patients, 397 of whom underwent primary operations, and 93 who underwent reoperations after attempted repairs at other institutions. With regard to the newborn, we have learned that the clinician must make an accurate neonatal diagnosis, drain a hydrocolpos when present, and create an adequate, totally diverting colostomy, leaving enough distal colon available for the pull-through, and a vaginal replacement if needed. A correct diagnosis will avoid repairing only the rectal component. For the definitive reconstruction, all patients in the series were managed with a posterior sagittal approach; 184 of whom also required a laparotomy. The average length of the common channel was 4.6 cm for patients who required a laparotomy and 2.5 cm for those who did not. Hydrocolpos was present in 139 patients (30%). Vaginal reconstruction involved a vaginal pull-through in 308 patients, a vaginal flap in 44, vaginal switch in 48, and vaginal replacement in 90 (33 with rectum, 15 with colon, and 42 with small bowel). A total of 220 underwent total urogenital mobilization, which was first introduced in 1996. Complications included rectal prolapse in 26, vaginal stricture or atresia in 18, urethrovaginal fistula in 13, and urethral atresia in 6. A total of 53% of all cases have voluntary bowel movements. The others are kept clean with a mechanical daily emptying (an enema) as part of a bowel management program. Indications for reoperations included persistent urogenital sinus after initial repair in 39 patients. Fifty-one had problems such as rectal prolapse, stricture, retraction, dehiscence or atresia, 29 had a mislocated rectum, 34 had vaginal stricture, retraction, dehiscence, atresia, or stenosis, 16 had urethrovaginal or rectovaginal fistulae, and 5 had urethral stricture or atresia. The series was divided into 2 distinct groups of patients where common channel measurement was known (n = 400): group A were those with a common channel < or = 3.0 cm (n = 225, 56%) and group B had a common channel >3 cm (n = 175, 44%). The separation into these 2 groups has important therapeutic and prognostic implications. Patients in Group A can be repaired posterior sagittally with a reproducible operation. Because they represent most patients, most well-trained pediatric surgeons should be able to repair these types of malformations, and the prognosis is good. Patients in Group B (those with a common channel >3 cm), usually require a laparotomy, have a much higher incidence of associated urological problems, and often require special maneuvers for vaginal reconstruction. Surgeons who repair Group B malformations require special training in urology; the operations are prolonged and technically demanding, and the functional results are not as good as in group A. PMID:20307849

Levitt, Marc A; Peña, Alberto

2010-05-01

287

[Moebius syndrome: therapeutic proposals from 2 cases].  

PubMed

Moebius syndrome is a congenital bilateral palsy of the sixth and seventh cranial nerves. It results a total absence of facial expression and a severe strabismus. Social life is greatly disturbed. Other anomalies may be associated, especially other cranial palsies and Poland syndrome. The etiology of this syndrome isn't clearly established. Stem necrosis secondary to a vascular deficiency is often admitted. We report two observations. We emphasize the importance of a complete maxillo-facial treatment including maxillo-mandibular anomaly. Both patient underwent orthognathic surgery. The first one for class II and the second for class III anomaly. One patient underwent a facial reanimation by temporal muscle transfer. Orthognathic surgery must be realized prior to facial reanimation. A correction of the strabismus is possible. Moebius syndrome is a rare (200 observations) but very severe malformation. Maxillofacial surgery is able to improve the morphological and relational aspect of Moebius syndrome. PMID:9036517

Braye, F; Souchere, B; Franc, C; Freidel, M

1996-12-01

288

Multiple medullary venous malformations decreasing cerebral blood flow: Case report  

SciTech Connect

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

Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. (Research Institute for Brain and Blood Vessels, Akita (Japan))

1991-02-01

289

Lymphatic malformations: A dilemma in diagnosis and management  

PubMed Central

Lymphatic malformations of the head and neck, also known as lymphangiomas or cystic hygromas, are a diverse group of lesions. Lymphangiomas represent benign hamartomatous tumors of lymphatic vessels with a marked predilection for the head, neck and oral cavity. These lesions, like most of the swellings occurring in the neck, frequently pose a dilemma in diagnosis and treatment. This is a case report of a lymphatic malformation which presented as a painless mass in the lower border of mandible. PMID:24808711

Ramashankar; Prabhakar, Chandan; Shah, Nishit Kumar; Giraddi, Girish

2014-01-01

290

The Arnold-Chiari Type II Malformation at Midgestation  

Microsoft Academic Search

The Arnold-Chiari malformation type II (ACMII) is reported to be reversible after closure of a myelomeningocele at midgestation. To elucidate the developmental state of the ACMII malformation at the approximate time fetal surgery is performed, the ACMII of a 20-week human fetus was investigated in vitro using high-field magnetic resonance microscopy at 9.4 T and compared with the hindbrain of

E. Beuls; L. Vanormelingen; J. van Aalst; M. Vandersteen; P. Adriaensen; E. Cornips; H. Vles; Y. Temel; J. Gelan

2003-01-01

291

Contemporary Themes: Congenital Malformations and the Problem of their Control*  

PubMed Central

The possibility of preventing or reducing the prevalence of human congenital malformations is discussed in the light of current knowledge about their aetiology. The original data presented are derived from an epidemiological study of all the infants (92,982) born in the three years 1964-6 to women resident in a defined area of South Wales and all the congenital malformations (3,242) discovered in those infants by the second anniversary of their birth. PMID:4262651

Lowe, C. R.

1972-01-01

292

[Lung perfusion scintigraphy in pediatric patients with congenital malformations].  

PubMed

Congenital malformations are an heterogeneous group of disorders that can lead changes in pulmonary perfusion and then can be evaluated with lung perfusion scintigraphy. We selected five patients in which the role of lung perfusion scintigraphy emerges as a reliable and non-invasive imaging technique. Lung perfusion scintigraphy is a useful tool in pediatric patients with congenital malformations allowing an accurate evaluation of the best therapeutic strategy and its results. PMID:24042425

Niccoli Asabella, Artor; Stabile Ianora, Amato Antonio; Di Palo, Alessandra; Rubini, Domenico; Pisani, Antonio Rosario; Ferrari, Cristina; Notaristefano, Antonio; Rubini, Giuseppe

2013-01-01

293

Three-dimensional spiral CT of craniofacial malformations in children  

Microsoft Academic Search

Objective. To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial\\u000a malformations.¶Materials and methods. Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations,\\u000a underwent craniofacial spiral CT. 3D reformatting was performed using an independent workstation.¶Results. 3D CT allowed the preoperative evaluation of

S. Binaghi; F. Gudinchet; B. Rilliet

2000-01-01

294

Cardiopulmonary bypass in surgery for complex-combined vascular malformation of the lower limb: case report.  

PubMed

A 16-year-old boy was referred with features of Parkes Weber syndrome (PWS) involving the right lower limb. He had presented at birth with cutaneous vascular malformations (VM) in the right thigh and at the age of 7 years developed congestive cardiac failure, which was controlled with drugs. He received alpha interferon and steroids during this period without any benefit. He defaulted follow-up and at 12 years of age presented with further enlargement of the VM in the right thigh and leg with skin and soft tissue thickening. At this stage, embolization and subsequent excision of the VM were tried, but the surgery was abandoned because of massive hemorrhage. Over the next 4 years, the boy became totally bedridden because of massive increase in the size of the limb, repeated hemorrhages, and secondary infection of the VM. Right hip disarticulation was considered the best option to improve his quality of life. To prevent uncontrollable hemorrhage during surgery, the disarticulation was done under cardiopulmonary bypass with low circulatory flow. Postoperatively, the patient required intensive care nursing for a week. He is presently ambulatory with crutches. Cardiopulmonary bypass with low flow has been used for treating posttraumatic arteriovenous malformations. However, its use in surgery for PWS has not been reported earlier. PMID:15806424

Ismail, M S; Sharaf, I; Thambidorai, C R; Zainal, A; Somasundaram, S; Adeeb, S; Sajjad, M Y; Bilkis, B; Felicia, L S K

2005-05-01

295

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

296

A case of Bonneau syndrome associated with multiple renal cortical cysts.  

PubMed

We describe a 2-month-old girl with congenital anomalies including facial anomalies, complex cardiac anomalies, polysyndactyly, dysgenesis of distal extremities and bilateral multiple renal cysts. The proband was the child of first-cousin parents. Clinical synopsis in Bonneau syndrome (OMIM: 263630) is polysyndactyly and cardiac malformation. In addition, liver anomalies were reported in two patients. We discuss polysyndactyly and cardiac malformation with bilateral multiple renal cysts, a combination not reported previously. PMID:19400539

Olgun, H; Orbak, Z; Tatar, A; Sepetcigil, O

2009-01-01

297

Orotracheal intubation with an AirWay Scope in a patient with Treacher Collins syndrome  

Microsoft Academic Search

Treacher Collins syndrome (TCS) is a congenital malformation of craniofacial development; in these patients conventional direct\\u000a laryngoscopy is very difficult and often unsuccessful because of the upper airway malformation. A 20-year-old man with TCS\\u000a was scheduled for elective tympanoplasty. The patient showed the characteristic facial appearance of TCS, and a difficult\\u000a airway was anticipated. After careful anesthesia induction, direct laryngoscopy

Hironobu Iguchi; Nobuko Sasano; Minhye So; Hiroyuki Hirate; Hiroshi Sasano; Hirotada Katsuya

2008-01-01

298

Liebenberg syndrome: case report and insight into molecular basis.  

PubMed

We report a case of Liebenberg syndrome in a 6-year-old girl, including the clinical, radiological, angiographic, and operative findings. We note that the forearm and hand malformations have similarities to leg and foot anatomy. Our observations may help provide insight into the etiology of this unusual condition. PMID:23395106

Abdel-Ghani, Hisham; Mansour, Ayman; Mahmoud, Mostafa; Ez-Elarab, Magdy

2013-03-01

299

Congenital bilateral perisylvian syndrome: first report in a Japanese patient.  

PubMed

A Japanese boy with congenital bilateral perisylvian syndrome is described. He had oropharyngoglossal dysfunction and severe dysarthria. Magnetic resonance imaging of the brain disclosed bilateral perisylvian malformations suggesting polymicrogyria. The patient also showed mental retardation, epilepsy, and poor motor skills. PMID:8914634

Hattori, H; Higuchi, Y; Maihara, T; Jung, E Y; Furusho, K; Asato, R

1996-03-01

300

Congenital bilateral perisylvian syndrome: First report in a Japanese patient  

Microsoft Academic Search

Summary A Japanese boy with congenital bilateral perisylvian syndrome is described. He had oropharyngoglossal dysfunction and severe dysarthria. Magnetic resonance imaging of the brain, disclosed bilateral perisylvian malformations suggesting polymicrogyria. The patient also showed mental retardation, epilepsy, and poor motor skills.

Haruo Hattori; Yoshihisa Higuchi; Toshiro Maihara; Eun-Young Jung; Kenshi Furusho; Reinin Asato

1996-01-01

301

Polysyndaktylie, verkürzte Gliedmaßen und Genitalfehlbildungen: Kennzeichen eines selbständigen Syndroms?  

Microsoft Academic Search

4 newborn babies dying shortly after birth exhibited severe malformations including median cleft lip, excessive polysyndactyly, short ribs and limbs, genital abnormalities, and anomalies of epiglottis and visceral organs. 13 nearly identical cases were found in the literature. In addition, 19 similar cases have been described. They all probably represent a separate, previously unrecognized syndrome. This peculiar association of congenital

F. Majewski; R. A. Pfeiffer; W. Lenz; R. Müller; G. Feil; R. Seiler

1971-01-01

302

Fetal autopsy of Meckel Gruber syndrome -a case report.  

PubMed

Meckel Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post-axial polydactyly. One such rare case at 28 weeks of gestation was terminated and its case report with the phenotypic features, fetal autopsy and histo-pathological examination are discussed. PMID:23445452

Bolineni, Chandrika; Nagamuthu, Ezhil Arasi; Neelala, Neelaveni

2013-10-01

303

[Oro-facial-digital syndrome type I: phenotypic variable expression].  

PubMed

Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. It is associated with malformation of the oral cavity, face, and digits. Furthermore, it is characterized by the presence of milia, hypotrichosis and polycystic kidney disease. We present two cases with clinical diagnosis oforal-facial-digital syndrome type I with some phenotypic variability between them. PMID:25362921

Boldrini, María Pía; Giovo, María Elsa; Bogado, Claudia

2014-12-01

304

A newborn with Cornelia de Lange syndrome: a case report  

Microsoft Academic Search

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early

Hakan Uzun; Dursun Senses; Munevver Uluba; Kenan Kocabay

2008-01-01

305

Ethical Aspects of Prenatal Diagnosis of Fetal Malformations  

PubMed Central

Fetal malformations complicate approximately 3% of all pregnancies. Many of these are minor or can be corrected after birth, but there are certain malformations that are lethal and others that are severe and others, that, even if corrected lead to permanent disability. Advances in prenatal diagnosis made possible the diagnosis of many fetal malformations. This led to the concept of the fetus a patient, independent of the pregnant woman, even though the moral status of the fetus is in dispute. Many of the lethal malformations are untreatable. However, for some, innovative in utero treatments, both medical and surgical, became possible. These interventions should be evaluated for the relative benefit and risk for both the fetus and the mother, because any such treatment has to involve the integrity of her body. This raises the ethical question of beneficence (to the fetus) versus the autonomy of the pregnant woman. The process of resolving this issue will be discussed, especially how to obtain a truly informed consent. For the lethal malformations or for those severe or multiple malformations whose treatment is theoretically possible but the results of such treatment are unpredictable or may lead to life long disabilities and serious burdens for the infant or child and the family, prenatal counseling should include “prenatal advance directive” and a plan for palliative care, the components of which will be described. PMID:23610506

Fadel, Hossam E.

2012-01-01

306

Limb malformations and abnormal sex hormone concentrations in frogs.  

PubMed Central

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

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

2000-01-01

307

A review of cavernous malformations with trigeminal neuralgia.  

PubMed

Cavernous malformation with trigeminal neuralgia is relatively rare; only 10 cases have been reported. In deciding treatment strategies, it is helpful to classify cavernous malformation according to its origin, as follows: in the Gasserian ganglion (Type G); between the cisternal and intra-axial portions of the trigeminal nerve root (Type C); in the intra-axial trigeminal nerve root in the pons (Type P); or in the spinal tract of the trigeminal nerve root (Type S). A 62-year-old male presented with left trigeminal neuralgia (V2 area) and left facial hypoesthesia. Imaging studies revealed a cerebellopontine angle mass lesion with characteristics of a cavernous malformation and evidence of hemorrhage. The lesion was completely removed via a left anterior transpetrosal approach. The mass was attached to the trigeminal nerve root; it was located between the cisternal and intra-axial portions of the nerve root, and feeding off microvessels from the trigeminal nerve vascular plexus. Histological examination confirmed a cavernous malformation. In this case, the cavernous malformation was Type C. We review cases of cavernous malformation with trigeminal neuralgia and discuss therapeutic strategies according to the area of origin. PMID:25129386

Adachi, Kazuhide; Hasegawa, Mitsuhiro; Hayashi, Takuro; Nagahisa, Shinya; Hirose, Yuichi

2014-10-01

308

Amniotic band syndrome: a case report.  

PubMed

Amniotic band syndrome is an uncommon congenital pathological condition that may lead to malformations and foetal-infant death. We report an autoptic case. The patient was a male preterm infant. At 14 weeks of gestation, a routine ultrasonography showed severe craniofacial anomalies and a close contiguity of the foetal head with the amnios. The neonate survived three days, after which an autopsy was carried out. The infant had a frontoparietal meningoencephalocele; a fibrous band was attached to the skin, close to the meningoencephalocele base. Cleft lip and palate, nose deformation and agenesis of the right eye were also present. At the opening of the cranial cavity, occipital hyperostosis was observed. The herniated brain showed anatomical abnormalities that made identification of normal structures difficult. Microscopically, the nervous parenchyma had architectural disorganization and immaturity, and the fibrous band consisted of amniotic membranes. As evident from this case report, amniotic band syndrome may cause severe malformations and foetal-infant death. PMID:21837919

Buccoliero, A M; Castiglione, F; Garbini, F; Moncini, D; Lapi, E; Agostini, E; Fiorini, P; Taddei, G L

2011-02-01

309

Hypofractionated stereotactic radiotherapy for large arteriovenous malformations  

PubMed Central

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

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

2012-01-01

310

Stereotactic linac radiosurgery for arteriovenous malformations.  

PubMed Central

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

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

1992-01-01

311

The management of arteriovenous malformations in children.  

PubMed

Between January 1941 and June 1989, 46 children below the age of 18 with an arteriovenous malformation (AVM) were managed. There were 7 patients with AVM diagnosed before the age of 2; 10 patients were diagnosed between the ages of 3 and 10; and 29 patients were diagnosed between 11 and 18. There were equal numbers of male and female patients. Twenty-five of the AVMs were large (greater than 5 cm longest diameter). All 7 AVMs diagnosed before the age of 2 were large. The usual clinical presentation was congestive heart failure, bruit and an enlarging head. Three patients underwent excision with 2 deaths and 1 excellent result. In 11 patients (aged 3-18) with AVM without history of hemorrhage, 3 had excision with 2 excellent and 1 fair result. Four remained stable. Four developed progressive deficits or hemorrhage. In 10 patients (aged 3-18) with AVM and hemorrhage who were treated medically, 7 (70%) had an episode of re-hemorrhage. Three patients had excision of AVM after re-hemorrhage, but before the age of 18 with an excellent result. Eighteen patients (aged 3-18) with AVM and a single episode of hemorrhage underwent excision with 17 excellent or good results and 1 fair result. The overall mortality was 7%. Eighty-five percent of the children with excision of AVM had an excellent or good result. The best treatment for AVM in children is surgical excision. PMID:2054808

Malik, G M; Sadasivan, B; Knighton, R S; Ausman, J I

1991-02-01

312

The Greig cephalopolysyndactyly syndrome.  

PubMed

The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a worse prognosis. The Article is a work of the United States Government. Title 17 U.S.C 5 105 provides that copyright protection is not available for any work of the United States Government in the United States. The United States hereby grants to anyone a paid-up, nonexclusive, irrevocable worldwide license to reproduce, prepare derivative works, distribute copies to the public and perform publicly and display publicly the work, and also retains the nonexclusive right to do all of the above for or on behalf of the United States. PMID:18435847

Biesecker, Leslie G

2008-01-01

313

Tourette Syndrome  

MedlinePLUS

NINDS Tourette Syndrome Information Page Condensed from Tourette Syndrome Fact Sheet Table of Contents (click to jump to sections) ... Trials Organizations Additional resources from MedlinePlus What is Tourette Syndrome? Tourette syndrome (TS) is a neurological disorder ...

314

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 ...

315

Blue Rubber Bleb Nevus Syndrome (Brbns)  

Microsoft Academic Search

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder (OMIM # 112200) characterized by multifocal venous malformations\\u000a mainly of the skin, soft tissue and gastrointestinal tract which may occur however in any tissue including the nervous system\\u000a (Enjolras and Mulliken 1997, Fretzin and Potter 1965, Moodley and Ramdial 1993, Mulliken and Glowacki 1982, Munkvad 1983, Nahm et al.

María del Carmen Boente; Maria Rosa Cordisco

316

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

317

Mondini deformity in a case of Turner syndrome. A radiological finding.  

PubMed

Turner syndrome (TS) is the human being's most frequent sex chromosome abnormality. Progressive sensorineural hearing loss is documented in more than 50% of the women affected by this syndrome. Although Mondini defect is the cochlear congenital malformation most frequently identified in other polymalformative syndromes, it has rarely been reported in TS. We describe the case of a 32-year-old woman with TS who presented progressive sensorineural hearing loss. The computed tomography of the ears showed bilateral Mondini deformity. PMID:21529720

Bodet Agustí, Eduard; Galido Ortego, Xavier; Ghani Martínez, Fares; García González, Begoña; Borràs Perera, Montserrat; Seara Gil, Angel

2012-01-01

318

[Cryptorchidism with didymo-epididymal dissociation and Robinow's syndrome: 2 case reports].  

PubMed

Two brothers of normal not consanguineous parents, with bilateral intrabdominal cryptorchidism, were admitted to our Institution. Both children had short stature, limb and hand malformations and craniofacial patterns of Robinow syndrome. During the orchidopexy, bilateral epididymal and vasal abnormalities were found in both of them. This anomaly associated with Robinow syndrome has never been reported before. These two cases provides the Authors with the opportunity of reviewing clinical features, genetics and radiological patterns of this rare syndrome. PMID:9312747

Fabbro, M A; D'Agostino, S; Costa, L; Musi, L; Cappellari, F

1997-01-01

319

Epidemiologic features of male genital malformations and subtypes in Texas.  

PubMed

Although distinct categories of male genital malformations share some common risk factors, few studies have systematically compared epidemiologic features across phenotypes. We evaluated the relationship between several maternal and infant characteristics and five categories of male genital malformations: second- or third-degree hypospadias, hypospadias (regardless of degree), small penis, cryptorchidism, and any male genital malformation. Data for 16,813 cases with isolated male genital malformations and 1,945,841 male live births delivered from 1999 to 2008 were obtained from the Texas Birth Defects Registry. For each phenotype category, 13 maternal and infant variables were assessed, and adjusted prevalence ratios were estimated based on the same multivariable Poisson regression model. A significant negative association was observed between previous live births versus no previous live births and four phenotypes (e.g., adjusted prevalence ratio [aPR] for any male genital malformation: 0.78, 95% confidence interval [CI]: 0.75-0.81). The prevalence of 4 of the phenotypes was significantly higher among multiple versus singleton pregnancies (e.g., aPR for any male genital malformation: 1.35, 95% CI: 1.25-1.47). We also observed significant associations between multiple phenotypes and residential region at delivery, delivery year, month of conception, and maternal age, race/ethnicity, education, and birthplace, including significant associations for trends (maternal age, maternal education, and birth year modeled ordinally). Our results allow for comparison of characteristics across phenotypes and suggest that there may be some common risk factors for multiple male genital malformations (e.g., characteristics related to maternal estrogen levels), while other risk factors may be unique to specific defects. PMID:24458943

Agopian, A J; Langlois, Peter H; Ramakrishnan, Anushuya; Canfield, Mark A

2014-04-01

320

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

321

The trisomy 18 syndrome.  

PubMed

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

Cereda, Anna; Carey, John C

2012-01-01

322

Stereotactic radiosurgery after embolization for arteriovenous malformations.  

PubMed

We sought to define the long-term benefits and risks of stereotactic radiosurgery (SRS) for arteriovenous malformation (AVM) patients who underwent prior embolization. Between 1987 and 2006, we performed Gamma Knife® SRS on 120 patients with AVM who underwent embolization followed by SRS. Sixty-four patients (53%) had at least 1 prior hemorrhage. The median number of embolizations varied from 1 to 5. The median target volume was 6.6 cm3 (range, 0.2-26.3 cm3). The median margin dose was 18 Gy (range, 13.5-25 Gy). After embolization, 25 patients (21%) developed symptomatic neurological deficits. The overall rates of total obliteration documented by either angiography or magnetic resonance imaging were 35, 53, 55 and 59% at 3, 4, 5 and 10 years, respectively. Nine patients (8%) had a hemorrhage during the latency interval and 7 patients died due to hemorrhage. The actuarial rates of AVM hemorrhage after SRS were 0.8, 3.5, 5.4, 7.7 and 7.7% at 1, 2, 3, 5 and 10 years, respectively. Permanent neurological deficits due to adverse radiation effects developed in 3 patients (2.5%) after SRS. Using a case-match control technique, we found that embolization prior to SRS was associated with a lower rate of total obliteration (p=0.028) in comparison to radiosurgery alone. In this 20-year experience, we found that prior embolization reduced the rate of total obliteration after SRS and latency interval hemorrhage risks were not affected by prior embolization. In the future, the role of embolization after SRS should be explored. PMID:23258513

Kano, Hideyuki; Kondziolka, Douglas; Flickinger, John C; Park, Kyung-Jae; Iyer, Aditya; Yang, Huai-che; Liu, Xiaomin; Monaco, Edward A; Niranjan, Ajay; Lunsford, L Dade

2013-01-01

323

Syndromes microdélétionnels (syndrome de Williams et syndrome de la délétion 22q11) au CHU Hassan II de Fès: à propos de 3 observations  

PubMed Central

Les syndromes microdélétionnels sont définis par la présence d’une anomalie chromosomique de taille mineure (inférieure à 5 mégabases) ou aneusomie segmentaire, décelable par cytogénétique moléculaire (FISH : Fluorescent in Situ Hybridization). Les syndromes microdélétionnels représentent des syndromes cliniques avec des phénotypes suffisamment caractéristiques pour être reconnus cliniquement. Actuellement la FISH est la technique de choix pour rechercher ces syndromes. Plusieurs syndromes microdélétionnels peuvent être confirmés aisément, les plus recherchés sont Le syndrome de Williams (microdélétion en 7q11.23) et le syndrome de la délétion 22q11 (microdélétion en 22q11.2). Le syndrome de Williams est caractérisé par une anomalie du développement qui associe un retard psycho-moteur, une dysmorphie du visage évocatrice et un profil cognitif et comportemental spécifique, une sténose aortique supravalvulaire -SASV- le plus souvent. Le Syndrome de la délétion 22q11 se caractérise par l’association de plusieurs malformations d’expression variable: une cardiopathie congénitale de type conotroncal, une dysmorphie faciale discrète mais caractéristique et une hypoplasie du thymus et des parathyroïdes. Nous rapportons nos premières observations au CHU Hassan II confirmées par FISH : Syndrome de la délétion 22q11 (n:2) et un syndrome de Williams. Le but de cet article est la mise à jour de nos connaissances sur ces deux syndromes et la mise en valeur du rôle de la cytogénétique moléculaire dans le diagnostic et le conseil génétique des syndromes microdélétionnels. PMID:22368746

Ouldim, Karim; Bouguenouch, Laila; Samri, Imane; El Otmani, Ihsan; Hamdaoui, Hasna; Bennis, Sanae; Lakhdar, Mounia Idrissi; Chaouki, Sana; Atmani, Samir; Hida, Moustapha

2012-01-01

324

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

325

Transgenerational transmission of radiation damage: genomic instability and congenital malformation.  

PubMed

The congenital malformation gastroschisis has a genetic disposition in the inbred mouse strain HLG/Zte. It is increased after preconceptional irradiation of males or females. Radiation exposures during the meiotic stages are most efficient. This malformation can also be induced by ionising radiation when the exposure takes place during the preimplantation period especially during the zygote stage. This latter effect can be transmitted to the next mouse generation. Other macroscopically visible or skeletal malformations are not significantly induced under these experimental conditions. These latter malformations are increased by radiation exposures during major organogenesis. The mechanisms for the development of the effects are different. Radiation exposure of the mouse zygote (1 to 3 hours p.c.) also leads to the induction of genomic instability in skin fibroblasts of the fetus. This phenomenon also occurs in a mouse strain (C57BL/6J) which is not susceptible to radiation-induced gastroschisis during the preimplantation period. The genomic instability is transmitted to the next mouse generation. During genomic instability chromatide breaks are dominating as in non-exposed cells. With respect to "spontaneous" malformations gastroschisis is dominating in HLG/Zte mice. Late radiation effects seem to have similar patterns as observed in non-exposed subjects, however, the rates are increased after irradiation. PMID:17019048

Streffer, Christian

2006-01-01

326

Population dependent differences of distribution of congenital heart malformations.  

PubMed

The aim of the work was to study the pattern of congenital circulatory system malformations in the newborns in Upper Silesia, Poland (N = 355), and to compare it with the data known from the literature, predominantly with genetically very distant Chinese population from Hong Kong (N = 744). There were significantly more boys (about 60%) than girls (about 40%) in both groups. Much higher rate of the heart defects with pulmonary outflow obstruction was found in Hong Kong neonates (37.8%) than in the Polish ones (16.1%). Left ventricular outflow obstruction malformations were more common in Chinese group (22.7%) than in Polish one (14.1%), as well. On the other hand, Polish neonates were significantly more often admitted to cardiological hospital because of left-to-right shunts (37.7%) as compared to Chinese population (15.5%). The rate of complete transposition of great arteries was similar in both studied groups (12.1% in Poland versus 12.4% in Hong Kong). So called common mixing malformations were not significantly more often found in Polish newborns (12.1%) than in Hong Kong ones (8.3%). It is concluded that it significant race dependent distribution difference of congenital heart malformations exists between Polish (Silesian) and Chinese (Hong Kong) newborn populations. On the other hand the pattern of congenital heart malformations found in Polish newborns seems to be not very different from these ones, known from literature, described in the USA or in Europe. PMID:12901266

Rokicki, W?adys?aw; Leung, Maurice; Kohut, Joanna; Durma?a, Jacek; Borowicka, Ewa

2003-01-01

327

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

328

Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?  

PubMed

We report two brothers who presented with mandibulofacial dysostosis, growth retardation, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other. The pattern of malformations differs significantly from established syndromes with mandibulofacial dysostosis such as Nager syndrome or Genée-Wiedemann syndrome and also from cerebro-costo-mandibular syndrome. As chromosome analysis revealed normal male karyotypes, we consider this to be a distinct heritable syndrome that may be either autosomal recessive or X-chromosomal recessive. PMID:11310989

Delb, W; Lipfert, S; Henn, W

2001-04-01

329

Cantrell's Syndrome with left ventricular diverticulum: a case report.  

PubMed

Congenital left ventricular diverticulum is a rare condition. When found, it is usually accompanied by other intracardiac malformations, so that again further examination is indicated. Furthermore, it is usually associated with thoracoabdominal wall defect, as seen in the spectrum of Cantrell's pentalogy, a congenital anomaly consisting of a lower sternal defect, diastasis recti, pericardial defect, anterior diaphragmatic hernia and cardiac malformation. This paper reports a case of Cantrell's Syndrome with left ventricular diverticulum. Successful total correction of ventricular diverticulum, ventricular defects and diastasi recti, was performed at two years of age. The clinical features, ambryology and surgical management of these defects are discussed. PMID:23422578

Manieri, S; Adurno, G; Iorio, F; Tomasco, B; Vairo, U

2013-02-01

330

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

331

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

332

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.  

PubMed

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability. PMID:23713051

Alby, Caroline; Bessieres, Bettina; Bieth, Eric; Attie-Bitach, Tania; Fermont, Laurent; Citony, Isabelle; Razavi, Ferechté; Vekemans, Michel; Escande, Fabienne; Manouvrier, Sylvie; Malan, Valérie; Amiel, Jeanne

2013-07-01

333

The Many Faces of Oral-Facial-Digital Syndrome  

PubMed Central

The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups. PMID:24052721

Sukarova-Angelovska, E; Angelkova, N; Palcevska-Kocevska, S; Kocova, M

2012-01-01

334

[A case of Noonan syndrome with neurogenic bladder].  

PubMed

We report a case of Noonan syndrome with neurogenic bladder. The patient was a 33-year-old man with a chief complaint of difficulty in urination, urinary frequency, and incontinence of urine. He had also various malformations, as deformities of the face, skull and hard palate, webbed neck, nail abnormality, edema of the lower extremities, contraction of visual field, deafness, malrotation of the intestine and so on. The case was diagnosed as Noonan syndrome because his karyotype of chromosome was 46, XY. Malformations of the urogenital organs were mild malrotation of bilateral kidneys, a right renal cyst, left cryptorchidism and pseudo phimosis. The uroflowmetrogram of the case showed a saw-like and flat pattern, with urination starting by tapping lower abdomen by himself. The cystometry and electromyogram of the external sphincter revealed neurogenic bladder with uninhibited contraction and detrusor-external sphincter dyssynergia. This is the first case of Noonan syndrome with neurogenic bladder. PMID:1479762

Ohashi, H; Okuno, T; Mizuo, T

1992-11-01

335

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

336

Cranial malformations in related white lions (Panthera leo krugeri).  

PubMed

White lions (Panthera leo krugeri) have never been common in the wild, and at present, the greatest population is kept in zoos where they are bred for biological and biodiversity conservation. During the years 2003 to 2008 in a zoological garden in northern Italy, 19 white lions were born to the same parents, who were in turn paternally consanguineous. Out of the 19 lions, 4 (21%) were stillborn, 13 (69%) died within 1 month, and 1 (5%) was euthanatized after 6 months because of difficulty with prehension of food. Six lions (32%) showed malformations involving the head (jaw, tongue, throat, teeth, and cranial bones). One lion (5%) still alive at 30 months revealed an Arnold-Chiari malformation upon submission for neurological evaluation of postural and gait abnormalities. Paternal consanguinity of the parents, along with inbreeding among white lions in general, could account for the high incidence of congenital malformations of the head in this pride of white lions. PMID:20826844

Scaglione, F E; Schröder, C; Degiorgi, G; Zeira, O; Bollo, E

2010-11-01

337

Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol  

SciTech Connect

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

Suh, Jin-Suck [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Shin, Kyoo-Ho [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of); Na, Jae-Bum [Kyungsang University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Won, Jong-Yun [Yonsei University, College of Medicine, Department of Diagnostic Radiology (Korea, Republic of); Hahn, Soo-Bong [Yonsei University, College of Medicine, Department of Orthopedic Surgery (Korea, Republic of)

1997-07-15

338

Radiation therapy for arteriovenous malformations: a review.  

PubMed

There have been numerous case reports and series of patients treated with partial brain irradiation, linear accelerator-based radiosurgery, gamma knife radiosurgery, and Bragg peak therapy for inoperable arteriovenous malformations (AVMs). These cases are summarized and compared. There is convincing evidence that radiation therapy does have a role in obliterating carefully chosen inoperable lesions. The changes that occur in vessel walls after radiation are reviewed. Data about x-ray and gamma radiation are mostly historical and difficult to evaluate because of the techniques of partial brain irradiation. There is a lack of data about the volume of AVM treated and the minimum dose delivered to the AVM nidus. For gamma knife, heavy particle, and linear accelerator therapy, more complete data are available. The incidence of hemorrhage during the first 2 years after treatment, when radiation-induced vascular changes are proposed to occur, is approximately 2.6% per year for gamma knife therapy, 2% per year for proton beam therapy, 2.3% per year for helium beam therapy, and 2.3% per year for linear accelerator therapy. These rates are similar to the recurrence rate for hemorrhage of 2.2 to 3% per year expected based on the natural history of untreated AVMs. If AVM obliteration after therapy is not achieved, the incidence of recurrent hemorrhage remains between 2% per year after treatment with gamma knife therapy. The incidence of hemorrhage for all patients treated was reported as 0.15% per year in one study and 20% over 8 years in a follow-up study using proton beam therapy. Mortality from hemorrhage after treatment was 0.6% after gamma knife therapy, 2.3% after helium beam therapy, and 2 to 5% after proton beam therapy. These figures for mortality are all lower than the 11% observed for the natural history of untreated AVMs. Permanent neurological deficits experienced as a complication of radiation occurred in 2 to 3% of patients treated with gamma knife therapy, 4% of patients treated with helium beam therapy, 1.7% of patients treated with proton beam therapy, and 3% of patients treated with stereotactic linear accelerator therapy. Proton beam therapy has been used for both small and large lesions. The majority of lesions in patients treated with gamma knife, helium beam, and linear accelerator therapy have been small (usually less than 3.0 cm average diameter) lesions. In these patients with small inoperable lesions treated with accurately directed fields of isocentric radiation, the greatest incidence of AVM obliteration has been observed on follow-up angiograms.(ABSTRACT TRUNCATED AT 400 WORDS) PMID:2191236

Ogilvy, C S

1990-05-01

339

[Embryology and etiology of the Poland and Amazone syndromes].  

PubMed

In 1841 A. POLAND described a rare complex of malformations in the male, characterized a unilateral pectoral muscle defect combined with ipsilateral symbrachydaktyly. If in the female a POLAND Syndrome is associated with ipsilateral hypo- or aplasia of the breast as a leading feature, we propose to name this entity "Amazone Syndrome". Altogether 5 POLAND Syndromes and 40 "Amazone Syndromes" were seen in our department. For the latter a morphological grading into four groups was performed for clinical purposes. The malformation complex of the poland syndrome develops between the 2nd and 5th week of gestation as a result of damage to an upper extremity bud. It is from this extremity-"Anlage" that the muscles of the shoulder girdle and the lateral thoracic wall (with common innervation by the brachial plexus) arise. In early embryonal life the lacteal ridge lies in close proximity to the exrremity bud. The "Amazone Syndrome" can be explained by simultaneous damage to an extremity bud and the lacteal ridge. Its aetiology is not clear. Lack of embryonal material, heredity, and teratogenic damage by medication are discussed. In our patients there was a strong suspicion of unwanted pregnancies with failed induced interruptions. On the other hand some siblings had various other congenital deformities. In conclusion we may state that any inhibition of the normal growth of the upper extremity bud may lead to the POLAND Syndrome, while a simultaneous damage to the extremity bud and the close-by lacteal mound may result in the "Amazone Syndrome. PMID:204553

Mühlbauer, W; Wangerin, K

1977-01-01

340

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

PubMed

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

2014-07-01

341

Muscle abnormalities of the chest in Poland’s syndrome: variations and proposal for a classification  

Microsoft Academic Search

Purposes  Poland’s syndrome (PS) is a rare congenital malformation, which combines anomalies of the chest and the homolateral upper\\u000a limb. The purposes of the paper are to study the chest musculoskeletal malformations of the syndrome and propose a classification\\u000a for the thoracic anomalies through our experience and taking into account the literature.\\u000a \\u000a \\u000a \\u000a \\u000a Methods  We reviewed ten patients diagnosed with PS. All of

Kapetanakis Stylianos; Papadopoulos Constantinos; Triantafilidis Alexandros; Fiska Aliki; Agrogiannis Nikolaos; Maria Demetriou; Panagiotou Petros

342

A rare subtelomeric deletion syndrome: Wolf Hirschhorn syndrome.  

PubMed

Wolf-Hirschhorn syndrome is caused by a deletion of the distal portion of the short arm of chromosome 4, and is characterized by psychomotor retardation, seizures, congenital malformations, and typical facial appearance including 'Greek warrior helmet' appearance of the nose. The form and the severity of clinical manifestations vary according to the size and location of the deletion. Major complications are severe growth retardation, developmental delay, seizures, feeding difficulties due to hypotonia, and predisposition to respiratory infections. Patients will benefit from supportive therapy and special education. It is important in terms of prognosis to provide counseling to families in this respect. We present here a case with Wolf-Hirschhorn Syndrome in order to remind its rarity and the ability of the patients' progress in the areas of motor skills, speech, social interaction. PMID:25365852

Zorlu, P; Eksioglu, A S; Ozkan, M; Tos, T; Senel, S

2014-01-01

343

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 ...

344

Maternal diabetes and congenital malformations among live births in Hawaii  

Microsoft Academic Search

Summary  The frequency of congenital malformations, in 187,266 live births in Hawaii from 1956 through 1966, was found to be significantly\\u000a higher among offspring of diabetic mothers (0.0175) than in offspring of non-diabetic mothers (0.0086) or mothers with no\\u000a complications of pregnancy (0.0074). However, the frequency of malformations in offspring of diabetic mothers was not significantly\\u000a higher than in offspring of

Madeleine J. Goodman

1976-01-01

345

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

346

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

347

Pulmonary arteriovenous malformations presenting as refractory heart failure  

PubMed Central

A 22-year-old young man with a history of idiopathic dilated cardiomyopathy (IDC) was admitted to our hospital due to difficult-to-control heart failure. A thoracic X-ray showed multiple nodules at the both pulmonary hilus and upper lobe of the right lung. Computed tomography (CT) angiography of the thorax confirmed arteriovenous malformation (AVM). However, effective treatment was impossible due to the poor physical condition; he died a few days later. Here we reported on the case of pulmonary arteriovenous malformations (PAVMs) being misdiagnosed as refractory heart failure. PMID:25276390

Chen, Kai-Hong; Huang, Guo-Yong; Song, Wei

2014-01-01

348

Primary tethered cord syndrome: a new hypothesis of its origin.  

PubMed

Primary tethered cord syndrome is defined as low placement of the spinal cord and thickened filum terminale with associated anomalies. This definition excludes anomalies concomitant with overt myelomeningocele and spinal cord tethering secondary to myelomeningocele repair. Embryologically, the primary tethered cord syndrome is an entirely different entity from overt myelomeningocele and associated Arnold-Chiari type II malformation, but its origins have not been satisfactorily explained. The authors postulate that primary tethered cord syndrome is a manifestation of local dysmorphogenesis of all three germ layers at the lumbosacral area, possibly triggered by a hemorrhagic, inflammatory, or some other local lesion occurring in embryogenesis. PMID:6426276

Sarwar, M; Virapongse, C; Bhimani, S

1984-01-01

349

A newborn with Cornelia de Lange syndrome: a case report.  

PubMed

Cornelia de Lange syndrome (CdLS) is a rarely seen multisystem developmental disorder syndrome characterized by facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Early in life, the distinctive craniofacial features in mild de Lange syndrome may be indistinguishable from the severe (classical) phenotype. We present here a case of newborn with CdLs. PMID:19019222

Uzun, Hakan; Senses, Dursun Ali; Uluba, Munevver; Kocabay, Kenan

2008-01-01

350

[Fraser syndrome. A case report].  

PubMed

Fraser syndrome is a rare autosomal recessive disorder; the most consistent features are cryptophthalmos, syndactyly of fingers and toes, laryngeal stenosis, and urogenital abnormalities. We report a newborn case at day 1 of life who had multiple abnormalities, born from a consanguineous marriage. Clinically, the newborn had an ankyloblepharon on the left side, a cryptophthalmos on the right side, a syndactyly, anorectal abnormalities with ambiguous genitalia, laryngeal stenosis, and ear malformations. TDM of the cranium and orbits and the transfontanel ultrasound were normal. The abdominal ultrasound showed renal abnormalities. Right eye surgery showed a reduced cornea to an opaque thin plate clinging to the iris without an anterior chamber and a nonindividualized eyeball. The authors discuss the morphological abnormalities, the clinical and paraclinical aspects of this syndrome, its multispecialized clinical management, and the importance of prenatal diagnosis. PMID:16523162

Allali, B; Hamdani, M; Lamari, H; Rais, L; Benhaddou, M; Kettani, A; Lahbil, D; Amraoui, A; Zaghloul, K

2006-02-01

351

A Registry-Based Assessment of Cerebral Palsy and Cerebral Malformations  

Microsoft Academic Search

Cerebral malformations are 1 of the many possible causes of cerebral palsy. In this study, a population-based comprehensive cerebral palsy registry was used to identify children whose cerebral palsy could be attributed to a cerebral malformation. The clinical features of these children were then compared with other children with cerebral palsy. Children with cerebral palsy and cerebral malformation did not

Lauren Self; Michael I. Shevell

2010-01-01

352

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

353

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 ...

354

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 ...

355

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 ...

356

Piriformis Syndrome  

MedlinePLUS

... Awards Enhancing Diversity Find People About NINDS NINDS Piriformis Syndrome Information Page Table of Contents (click to ... is being done? Clinical Trials Organizations What is Piriformis Syndrome? Piriformis syndrome is a rare neuromuscular disorder ...

357

Chiari Type I Malformation: Overview of Diagnosis and Treatment  

Microsoft Academic Search

Chiari Type I malformation (Chiari I) is a congenital hindbrain anomaly characterized by downward dis- placement of the cerebellar tonsils through the fora- men magnum. This can lead to compression of cere- bellar components, the lower brainstem, and the upper cervical spinal cord. In turn, a variety of neu- rological deficits and permanent nervous system damage may evolve. This review

John Nash; Joseph S. Cheng; Glenn A. Meyer; Bernd F. Remler

358

Pulmonary arteriovenous malformation in the newborn: A familial case  

Microsoft Academic Search

Pulmonary arteriovenous malformation (PAVM) is a rare cause of cyanosis in the newborn with nine previously reported cases. Typical signs at presentation include cyanosis, murmur, and congestive heart failure. Abnormality on chest x-ray is common with cardiomegaly, oligemia, and focal pulmonary density. There is a male predominance, unlike older children and adults with PAVM. Familial cases of PAVM have been

Steven W. Allen; Jonathan M. Whitfield; David R. Clarke; Eva Sujansky; James W. Wiggins

1993-01-01

359

Fusarium species associated with waterberry (Syzygium cordatum) floral malformation  

E-print Network

or in swampy spots. This evergreen tree has white, fluffy flowers that bloom from August to November. Its fruit is an edible berry that turns dark-purple when ripe. In rural areas the tree is used as a remedy large numbers of flowers. With time these malformed inflorescences dry out without ever bearing fruit

360

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

361

Failed transarterial embolization of subserosal uterine arteriovenous malformation.  

PubMed

Uterine arteriovenous malformation (AVM) is rare but potentially life-threatening from excessive vaginal bleeding. All uterine AVMs reported to date have been found in the endometrial or myometrial layers. Here we present a patient with a subserosal type AVM on the fundus of uterus, which spontaneously ruptured. PMID:24328024

Seo, Kyung Jin; Kim, Jin; Sohn, In Sook; Kwon, Han Sung; Park, Sang Woo; Hwang, Han Sung

2013-09-01

362

SHORT COMMUNICATION Fusarium mangiferae associated with mango malformation  

E-print Network

SHORT COMMUNICATION Fusarium mangiferae associated with mango malformation in the Sultanate of Oman in the beginning of 2005 in plantations at Sohar in the Sultanate of Oman. The affected inflorescences were factor 1 . -tubulin Mango (Mangifera indica) is an important perennial crop in the Sultanate of Oman

363

Management of the fetus with a cystic adenomatoid malformation  

Microsoft Academic Search

Prenatal detection and serial sonographic study of fetuses with congenital cystic adenomatoid malformation (CCAM) now makes it possible to define the natural history of this lesion, determine the pathophysiologic features that affect clinical outcome, and formulate management based on prognosis. In a series of 22 prenatally diagnosed cases, the overall prognosis depended on the effects of the lung mass and

N. Scott Adzick; Michael R. Harrison

1993-01-01

364

Valproic Acid and Congenital MalformationsA Case Report  

Microsoft Academic Search

An infant exposed in utero to valproic acid was born with multiple congenital malformations, including duodenal atresia, lumbar vertebral fusion, thoracolumbar scoliosis, renal abnormalities, diastasis recti abdominis, depigmentation of the eye brows, and a large hemangioma. The child had neonatal hyperbilirubinemia and postnatal growth deficiency. This case report is an addition to the literature im plicating valproic acid as a

Maj Eric W. Bantz

1984-01-01

365

Valproic acid and congenital malformations. A case report.  

PubMed

An infant exposed in utero to valproic acid was born with multiple congenital malformations, including duodenal atresia, lumbar vertebral fusion, thoracolumbar scoliosis, renal abnormalities, diastasis recti abdominis, depigmentation of the eyebrows, and a large hemangioma. The child had neonatal hyperbilirubinemia and postnatal growth deficiency. This case report is an addition to the literature implicating valproic acid as a human teratogen. PMID:6426840

Bantz, E W

1984-06-01

366

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

367

Coiling of a vulvar arterio-venous malformation  

PubMed Central

The authors report the case of a 13-year-old girl with a painful vulvar swelling and abnormal vaginal bleeding, increasing in size after trauma. With MRI (GE Signa HDx 1.5 Tesla), it is diagnosed as an arterio-venous malformation arising from the left superior femoral artery. It is treated by embolisation using a coil. PMID:22674935

Van der Woude, Daisy Adriana Annejan; Stegeman, Marjan; Seelen, Jan L

2011-01-01

368

Maternal smoking and congenital malformations: an epidemiological study  

Microsoft Academic Search

In a case-control study undertaken in several hospitals in Connecticut, it was found that women who reported smoking more than 20 cigarettes a day during pregnancy had a relative risk of about 1.6 for congenital malformations in the offspring of that pregnancy compared with women who said they had not smoked at all during pregnancy. However, there was no significant

J L Kelsey; T Dwyer; T R Holford; M B Bracken

1978-01-01

369

Development and malformations of the human pyramidal tract  

Microsoft Academic Search

The corticospinal tract develops over a rather long period of time, during which malformations involving this main central motor pathway may occur. In rodents, the spinal outgrowth of the corticospinal tract occurs entirely postnatally, but in primates largely prenatally. In mice, an increasing number of genes have been found to play a role during the development of the pyramidal tract.

H. J. ten Donkelaar; M. M. Y. Lammens; P. Wesseling; A. Hori; A. J. M. Keyser; J. J. Rotteveel

2004-01-01

370

Spitz nevus arising upon a congenital glomuvenous malformation.  

PubMed

There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM. PMID:22304367

Arica, Deniz A; Arica, Ibrahim E; Yayli, Savas; Cobanoglu, Umit; Akay, Bengu N; Anadolu, Rana; Bahadir, Sevgi

2013-01-01

371

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...

372

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

PubMed

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

Romani, Marta; Micalizzi, Alessia; Kraoua, Ichraf; Dotti, Maria Teresa; Cavallin, Mara; Sztriha, László; Ruta, Rosario; Mancini, Francesca; Mazza, Tommaso; Castellana, Stefano; Hanene, Benrhouma; Carluccio, Maria Alessandra; Darra, Francesca; Máté, Adrienn; Zimmermann, Alíz; Gouider-Khouja, Neziha; Valente, Enza Maria

2014-01-01

373

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

374

Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3.  

PubMed Central

Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, including a translocation breakpoint at 7q21.3 near the DSS1 gene. In addition to ectrodactyly of all four limbs, the patient has congenital deafness, submucous cleft palate, microcephaly, and mental retardation. This patient represents an additional case of syndromic ectrodactyly related to the SHFM1 gene region, which may be responsible for both syndromic and non-syndromic ectrodactyly. Images PMID:8782053

Ignatius, J; Knuutila, S; Scherer, S W; Trask, B; Kere, J

1996-01-01

375

[Niikawa-Kuroki syndrome (the so-called Kabuki make up syndrome)].  

PubMed

The first case of Niikawa-Kuroki-syndrome (so called Kabuki-make up-syndrome) in Europe and the second one out of Japan has been reported. It concerns a male child with retardation of growth, mental and motoric development. The syndrome can be diagnosed through the typical dysmorphia of the face, epicanthus, arched eyebrows, broad and depressed nasal tip, large malformed ears and stubby fingers. Anomalies of the dermatoglyphic patterns of the fingers observed in the Japanese patients could not be confirmed in our case. There was a normal chromosomal pattern. No further cases in the family could be found. The etiology of this new syndrome is not yet elucidated. PMID:3959492

Braun, O H; Schmid, E

1986-01-01

376

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

377

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

378

Combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in Meckel-Gruber syndrome: a case report.  

PubMed

Meckel-Gruber syndrome (MKS) is a fatal, autosomal recessive disorder characterized by malformation of central nervous system, particularly occipital encephalocele, bilateral renal dysplasia, and polydactyly. However, the clinical findings of this syndrome encompass various organ abnormalities as a result of genetic heterogeneity. The associated heart anomaly in MKS is inconstant. Its prevalence is rare and no striking or specific cardiac defects have been documented. We present a case of MKS with combined cor triatriatum sinistrum (left atrium divided into upper and lower compartment by a thin membrane) and hypoplastic left heart syndrome (underdeveloped mitral valve, left ventricle, and aorta) in a 33-week male fetus that was ultrasonographically detected and confirmed by autopsy. In addition to the cardiac defects, the patient was found to have postaxial polydactyly of 4 extremities, Dandy-Walker malformation, bilateral renal cystic dysplasia, and hepatic plate malformation. To the best of our knowledge, this is the first time that a combination of cor triatriatum sinistrum and hypoplastic left heart syndrome in MKS has been reported in the literature. PMID:19358626

Taweevisit, Mana; Treetipsatit, Jitsupa; Tantbirojn, Patou; Thorner, Paul Scott

2009-01-01

379

Diversity of congenital cardiac defects and skeletal deformities associated with the Holt-Oram syndrome  

PubMed Central

INTRODUCTION The Holt–Oram syndrome is a rare congenital disorder involving the skeletal and cardiovascular systems. It is characterized by upper limb deformities and cardiac malformations, atrial septal defects in particular. PRESENTATION OF CASE Four consecutive patients 1–15 years old with the Holt–Oram syndrome presented over a 10 year span for surgical treatment of their cardiac maladies. The spectrum of the heart defects and skeletal deformities encountered in these patients are described and discussed. DISCUSSION The Holt–Oram syndrome is an autosomal dominant condition; however absence of the morphological features of the trait in close family members is not rare. Although patients are known to predominately present with atrial septal defects, other cardiovascular anomalies, including rhythm abnormalities, are not uncommon. Skeletal disorders vary as well. CONCLUSION Cardiovascular disorders, skeletal malformations and familial expression of the Holt–Oram syndrome, vary widely. PMID:24879328

Chryssostomidis, Gregory; Kanakis, Meletios; Fotiadou, Vassiliki; Laskari, Cleo; Kousi, Theofili; Apostolidis, Christos; Azariadis, Prodromos; Chatzis, Andrew

2014-01-01

380

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.  

PubMed

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight farms that had submitted lambs for post-mortem examination. This Schmallenberg virus was first reported in Germany and seems to be related to the Shamonda, Aino, and Akabane viruses, all of which belong to the Simbu serogroup of the genus Orthobunyavirus of the family Bunyaviridae. These preliminary findings suggest that the Schmallenberg virus is the most likely cause of this epizootic of ovine congenital malformations, which is the first such outbreak reported in Europe. PMID:22393844

van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P

2012-02-01

381

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

382

Kidney stone and urinary bladder telangiectasia in a patient with TAR syndrome.  

PubMed

TAR syndrome is a congenital malformation syndrome characterized by bilateral absence of the radius and thrombocytopenia. The known urinary anomalies are duplex ureter, dilatation of renal pelvis, horseshoe kidney and functional problems like vesicoureteral reflux and pyelonephritis. In this report of a case with TAR syndrome, a kidney stone and bladder telangiectasia were found coincidentally during the investigation of hematuria. TAR syndrome is discussed in the light of the medical literature. To our knowledge, no case has been reported demonstrating nephrolithiasis and bladder telangiectasia in TAR patients. PMID:19102062

Akil, Ipek; Gözmen, Salih; Yilmaz, Omer; Taneli, Can

2008-01-01

383

Anesthetic management of a patient with Holt-Oram syndrome undergoing right radial head excision  

PubMed Central

Holt-Oram syndrome also known as heart and hand syndrome, first reported in 1960. It is a rare, inherited, an autosomal dominant disorder with mutation in TBX5. As the name suggests, the feature involves skeletal abnormality mainly involving upper limb, that is, upper-extremity malformations involving radial, thenar, or carpal bones; congenital heart diseases like, atrial-septal defect and ventricular septal defect and conduction problems. This syndrome may also involve other part of skeletal structure. We hereby report a case of a patient who was suffering from this syndrome scheduled for right radial head excision.

Shetti, Akshaya N.; Dhulkhed, Vithal K.; Panchgar, Vinayak; Prakash, Lokesh

2014-01-01

384

Goldenhar's syndrome.  

PubMed

We present a report on 16 patients with Goldenhar's syndrome. The criteria we required for the diagnosis of Goldenhar's syndrome consisted of an eye abnormality (lipoma, lipodermoid, epibulbar dermoid, or upper eyelid coloboma) associated with ear, mandibular, or vertebral anomalies (two of the three). Although Treacher Collins' syndrome can be easily differentiated from Goldenhar's syndrome, the differences between Goldenhar's syndrome and hemifacial microsomia are more difficult to delineate. PMID:626178

Feingold, M; Baum, J

1978-02-01

385

Developmental syndromes: growth hormone deficiency and treatment.  

PubMed

Developmental syndromes are characterized by numerous phenotypical signs and malformations. In most of them such as Turner, Noonan, Prader-Willi, Silver-Russel, Williams, Kabuki, Leri-Weill syndrome and skeletal dysplasias, short stature is a common feature. Growth defect is very often related to a defect in cellular growth, but some unknown abnormality in GH action is possible. Recently, the greater availability of recombinant GH has expanded the interest towards GH secretion and therapy also in developmental syndromes. We recognize syndromes associated with GH deficiency (GHD), showing a developmental midline defect such as Pallister-Hall syndrome, septo-optic dysplasia, but many of these conditions do not have a convincing link with GHD. Moreover, some conditions, in particular the well-studied Turner syndrome, that do not have a real GHD, have proven to benefit from GH therapy at supra-physiological doses obtaining a higher final height than the expected one according to the natural history. This has expanded the indications for GH therapy. The aim of our paper is to review the literature on GH secretion, on the effects and costs-benefits of GH therapy in many dysmorphic syndromes, presenting some results of GH secretion and therapy obtained in our experience. PMID:19293579

Mazzanti, Laura; Tamburrino, Federica; Bergamaschi, Rosalba; Scarano, Emanuela; Montanari, Francesca; Torella, Michele; Ballarini, Elisa; Cicognani, Alessandro

2009-01-01

386

Aicardi syndrome in two Turkish children.  

PubMed

Aicardi syndrome (AS) is an X-linked inherited disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. The syndrome is more frequently seen in females but is observed in XXY male patients. Central nervous system, ocular, and costovertebral malformations may also seen in AS. Eye findings are of a considerable diagnostic importance; the chorioretinal lacunae are pathognomonic for AS and are generally bilateral. The outcome of the disease is generally severe, with a high mortality rate and poor developmental outcome. It is not clear which characteristics of the syndrome are related to a good prognosis in terms of psychomotor development, epileptic seizures, and survival. The purpose of this report was to demonstrate the spectrum of the clinical findings and the course of AS in two Turkish patients with different ocular and cranial MRI findings. PMID:22750766

Bayram, Erhan; Topcu, Yasemin; Akinci, Gulcin; Hiz, Semra; Cakmakci, Handan

2013-01-01

387

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

388

Blue Rubber Bleb Nevus Syndrome as a rare Cause of Iron Deficiency Anemia: a Case Report and Review of Literature  

PubMed Central

Blue Rubber Bleb Nevus Syndrome is a rare disorder that is characterized by multiple recurrent vascular malformations of skin and gastrointestinal tract. The affected patients may present with diverse manifestations including iron deficiency anemia. We report this syndrome in a 22-year-old man that was referred to our hospital for iron deficiency anemia with unknown cause and vascular malformations in the skin and gastrointestinal tract. Because of stable hemoglobin level, we decided to treatment him by iron supplementation and close follow up. We report this case along with a review of literature. PMID:24829697

Zahedi, Mohammad Javad; Darvish Moghadam, Sodaif; Seyed Mirzaei, Seyed Mahdi; Dehghani, Masood; Shafiei pour, Sara; Rasti, Atefe

2013-01-01

389

Chromosome 22q11.2 deletion syndrome: prenatal diagnosis, array comparative genomic hybridization characterization using uncultured amniocytes and literature review.  

PubMed

We present prenatal diagnosis of de novo 22q11.2 microdeletion syndrome using uncultured amniocytes in a pregnancy with conotruncal heart malformations in the fetus. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of TBX1, COMT, UFD1L, GNB1L and MED15 in the deleted region. We review the literature of chromosomal loci and genes responsible for conotruncal heart malformations and tetralogy of Fallot. PMID:23791650

Chen, Chih-Ping; Huang, Jian-Pei; Chen, Yi-Yung; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Chen, Wen-Lin; Wang, Wayseen

2013-09-15

390

Tuber Cinereum Diverticula in a 28-Month-Old with Xq21 Deletion Syndrome  

PubMed Central

A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation. PMID:25126438

2014-01-01

391

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

392

Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.  

PubMed Central

Young and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here. Images PMID:2614801

Cavalcanti, D P

1989-01-01

393

Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred  

Microsoft Academic Search

An inbred kindred with 15 cases of the autosomal recessive Ellis-van Creveld syndrome is reported. The ages of the 12 living affected varied between 3 and 82 years. The main characteristics include polydactyly of the hands and feet and several other skeletal anomalies, oral manifestations, and malformations of the heart in 50% of the living affected.

E O da Silva; D Janovitz; S C de Albuquerque

1980-01-01

394

Tuber cinereum diverticula in a 28-month-old with xq21 deletion syndrome.  

PubMed

A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypothalamic malformation. PMID:25126438

Whitehead, Matthew T; Vezina, Gilbert

2014-01-01

395

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

396

Deletion of short arm of chromosome 18, Del(18p) syndrome.  

PubMed

Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck. This case report presents with characteristic features along with rare feature of single nostril. PMID:24531606

Babaji, Prashant; Singh, Anurag; Lau, Himani; Lamba, G; Somasundaram, P

2014-01-01

397

Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity  

Microsoft Academic Search

Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears (‘question mark ears’), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia. Penetrance seems to be complete, but there is high inter- and intra-familial phenotypic variation, with no evidence of genetic heterogeneity. We herein describe a new multigeneration family with 11

Cibele Masotti; Karina G Oliveira; Fabiana Poerner; Alessandra Splendore; Josiane Souza; Renato da Silva Freitas; Roseli Zechi-Ceide; Maria Leine Guion-Almeida; Maria Rita Passos-Bueno

2008-01-01

398

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

399

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

400

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

401

Klippel-Tr?naunay syndrome, pregnancy and the liver: an unusual interplay  

PubMed Central

Klippel-Trénaunay syndrome is a rare congenital syndrome characterized by capillary malformations, soft tissue and bone hypertrophy, and varicose veins. There is a well-established risk for thrombotic complications in these patients. A case of a young patient diagnosed post partum with the very rare liver involvement is presented. The complex clinical course, the multidisciplinary management and the long-term outcome are discussed. PMID:24714267

Samonakis, Dimitrios N.; Oustamanolakis, Pantelis; Manousou, Penelope; Kouroumalis, Elias A.; Burroughs, Andrew K.

2012-01-01

402

Meckel-Gruber syndrome: A rare and lethal anomaly with review of literature.  

PubMed

Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature. PMID:24082939

Parelkar, Sandesh V; Kapadnis, Satish P; Sanghvi, Beejal V; Joshi, Prashant B; Mundada, Dinesh; Oak, Sanjay N

2013-05-01

403

Large genomic rearrangements in NIPBL are infrequent in Cornelia de Lange Syndrome  

Microsoft Academic Search

Cornelia de Lange Syndrome (CdLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, malformations of the upper limbs, and delay in growth and development. Mutations in NIPBL are associated with CdLS in 27–56% of cases and have been reported as point mutations, small insertions and deletions in coding regions, regulatory regions and at splice junctions. All

Zahurul A Bhuiyan; Helen Stewart; Egbert J Redeker; Marcel M A M Mannens; Raoul C M Hennekam

2007-01-01

404

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction  

Microsoft Academic Search

Cornelia de Lange syndrome (CdLS; or Brachmann-de Lange syndrome) is a dominantly inherited congenital malformation disorder with features that include characteristic facies, cognitive delays, growth retardation and limb anomalies. Mutations in nearly 60% of CdLS patients have been identified in NIPBL, which encodes a regulator of the sister chromatid cohesion complex. NIPBL, also known as delangin, is a homolog of

Diana Braunholz; Melanie Hullings; María Concepcion Gil-Rodríguez; Christopher T Fincher; Mark B Mallozzi; Elizabeth Loy; Melanie Albrecht; Maninder Kaur; Janusz Limon; Abhinav Rampuria; Dinah Clark; Antonie Kline; Andreas Dalski; Juliane Eckhold; Andreas Tzschach; Raoul Hennekam; Gabriele Gillessen-Kaesbach; Jolanta Wierzba; Ian D Krantz; Matthew A Deardorff; Frank J Kaiser

2012-01-01

405

External Mandibular Distraction in Unusual Pediatric Syndromes with Micrognathia and Airway Obstruction  

Microsoft Academic Search

Mandibular hypoplasia is a craniofacial malformation that can cause airway obstruction and may affect the eating process.\\u000a This anomaly is common in many polimalformed Syndromes, including the Pierre Robin Sequence and the Moebius Syndrome. It is\\u000a also common in cases related to the dysgenesis of the brainstem. In order to avoid tracheostomy, or to allow for early decannulation\\u000a in severely

Ricardo Horta Oliveira; Marisa Marques; José Manuel Amarante; Álvaro Silva

406

Arteriovenous malformation of the mandible and parotid gland  

PubMed Central

Arteriovenous malformations (AVMs) of the jaws are relatively rare, with fewer than 200 cases reported in the literature. Their real importance lies in their potential to result in exsanguination, which usually follows an unrelated treatment, such as tooth extraction, surgical intervention, puncture wound or blunt injury in involved areas, with the dentist unaware of the existence of the AVM. The present case illustrates an AVM in an 18-year-old female with swelling on the right side of the face. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigation diagnosed it as high-flow vascular malformation. We ascertain the importance of dentists' awareness of the fatal outcome of these lesions and emphasize that, prior to performing any procedure, necessary investigations should always be done. PMID:22282511

Shailaja, S R; Manika; Manjula, M; Kumar, L V

2012-01-01

407

Arnold-Chiari malformation in a captive African lion cub.  

PubMed

Progressive ataxia, delayed growth, dementia and tremors were noted in a female African lion (Panthera leo) cub at the Tel-Aviv Ramat-Gan Zoological Center (Israel). The lioness was 3-mo-old when clinical signs were first noticed. Repeated neurological evaluations and blood tests were conducted in an attempt to establish a diagnosis. A congenital abnormality was suspected and the lioness died 6 molater. Post mortem examination revealed an Arnold-Chiari malformation. The abnormality was classified as a Chiari type 2 malformation, based on the herniation of the cerebellar vermis and paravermis and the slight caudal displacement of the medulla, combined with lack of displacement in other parts of the brainstem. PMID:9706583

Shamir, M H; Horowitz, I H; Yakobson, B; Ofri, R

1998-07-01

408

Congenital malformations of the vertebral column in ancient amphibians.  

PubMed

Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations (hemi, wedge and block vertebrae) in Permian and Triassic temnospondyls, showing that defects of formation and segmentation in the tetrapod vertebral column represent a fundamental failure of somitogenesis that can be followed throughout tetrapod evolution. This is irrespective of the type of affected vertebra, that is, rhachitomous or stereospondylous, and all components of the vertebra can be involved (intercentrum, pleurocentrum and neural arch), either together or independently on their own. This is the oldest known occurrence of wedge vertebra and congenital block vertebra described in fossil tetrapods. The frequency of vertebral congenital malformations in amphibians appears unchanged from the Holocene. PMID:23551141

Witzmann, F; Rothschild, B M; Hampe, O; Sobral, G; Gubin, Y M; Asbach, P

2014-04-01

409

Resection of pontine cavernous malformation through the pontomedullary sulcus.  

PubMed

In this video, we illustrate a right far-lateral craniotomy for resection of a 13-mm cavernous malformation of the pons in a healthy 53-year-old female patient presenting with diplopia and right 6th nerve palsy. The cavernous malformation was surrounded by normal pons, but was within 1 mm of the pontomedullary sulcus. The lesion was exposed from below through a far lateral craniotomy and accessed through the vasoaccessory triangle, superior to olivary nucleus and 12th cranial nerve. The alternative retrosigmoid craniotomy would have involved significant transgression of the middle cerebellar peduncle. The patient had gross-total resection and some temporary increase in her abducens nerve palsy without any complication. The video can be found here: http://youtu.be/8nOnrnTk3Tg . PMID:24380516

Abla, Adib Adnan; Clark, Aaron J; Lawton, Michael L

2014-01-01

410

Cloacal malformation: embryology, anatomy, and prenatal imaging features.  

PubMed

Cloacal malformation is a rare but important anomaly. Prenatal diagnosis is possible with knowledge of the distinctive imaging features. The purpose of this case series is to illustrate characteristic prenatal sonographic and magnetic resonance imaging features of cloacal malformation using imaging from 6 cases seen at a single academic center to augment published data. The imaging feature common to all cases was a central cystic pelvic mass containing a characteristic fluid-fluid level. Additional anomalies include uterine and vaginal duplication, hydronephrosis, and lumbosacral anomalies. Prenatal magnetic resonance imaging showed the absence of the normal T1-hyperintense meconium-filled rectum in all cases. Prenatal diagnosis may affect immediate neonatal care (eg, immediate drainage of hydrocolpos) with an ultimate improved outcome. PMID:23091258

Winkler, Nicole S; Kennedy, Anne M; Woodward, Paula J

2012-11-01

411

[Facial venous malformation presented with an unusual course].  

PubMed

Venous malformations are constitutionally-dependent vascular anomalies. In contrast to haemangiomas, they show no spontaneous regression. We describe here the case of a 21-year-old woman with a very severe facial disfigurement caused by a large venous malformation. After intensive consultation, advice and planning, the patient decided to undergo therapy and was admitted to hospital for treatment by an interdisciplinary team, consisting of a radiologist and a plastic surgeon. Under general anaesthesia, percutaneous sclerosis was performed twice. This enabled thrombosing and subsequent extensive resection of the monstrously large tumour. The well-planned and efficiently performed surgery helped the patient to gain a significant improvement in her quality of life. PMID:19085823

Piza-Katzer, H; Waldenberger, P

2009-04-01

412

Juvenile Pilocytic Astrocytoma in Association with Arteriovenous Malformation  

PubMed Central

Summary Pilocytic astrocytomas are highly vascular, relatively common primary brain tumors in the pediatric population, but their association with a true arteriovenous malformation (AVM) is extremely rare. We describe an eight-year-old girl with a right supratentorial juvenile pilocytic astrocytoma (WHO grade I) with an angiographically documented AVM entangled in the tumor mass who presented with intracranial hemorrhage due to a ruptured anterior choroidal artery pseudoaneurysm encased in the lesion. The AVM nidus as well as the hemorrhage site was embolized with Onyx. A literature review revealed only one previous report of a true intermixture of these two lesions. We hypothesize whether the association of vascular malformations and primary brain tumors are merely coincidental or if they point to the existence of a distinct entity and/or a common etiologic factor. PMID:22681727

Soltanolkotabi, M.; Schoeneman, S.E.; Dipatri, A.J.; Hurley, M.C.; Ansari, S.A.; Rajaram, V.; Tomita, T.; Shaibani, A.

2012-01-01

413

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

414

Medullary Sponge Kidney and Testicular Dysgenesis Syndrome: A Rare Association  

PubMed Central

The medullary sponge kidney is also known as Lenarduzzi's kidney or Cacchi and Ricci's disease from the first Italian authors who described its main features. A review of the scientific literature underlines particular rarity of the association of MSK with developmental abnormalities of the lower urinary tract and genital tract such as hypospadias and bilateral cryptorchidism. The work presented is the only one in the scientific literature that shows the association between the medullary sponge kidney and the testicular dysgenesis syndrome. A question still remains unanswered: are the MSK and TDS completely independent malformation syndromes occurring, in this case, simultaneously for a rare event or are they different phenotypic expressions of a common malformative mechanism? In the future we hope that these questions will be clarified. PMID:24716085

Masciovecchio, Stefano; Saldutto, Pietro; Paradiso Galatioto, Giuseppe; Vicentini, Carlo

2014-01-01

415

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

416

Pediatric stroke: the importance of cerebral arteriopathy and vascular malformations  

Microsoft Academic Search

Purpose  Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 person-years. More than\\u000a half of children who have had a stroke have long-term neurological sequelae. The goal of this article is to review recent\\u000a literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations\\u000a as stroke

Lauren A. Beslow; Lori C. Jordan

2010-01-01

417

Arteriovenous Malformation of the Pancreas: Report of a Case  

Microsoft Academic Search

Arteriovenous malformation (AVM) of the pancreas (AVMP) is uncommon and generally asymptomatic; therefore, few cases have\\u000a so far been reported. The symptoms of AVMP include gastrointestinal bleeding, pain, and portal hypertension. Definitive diagnosis\\u000a is confirmed by angiographic study, and surgery is the only effective treatment. We report a case of AVMP confirmed by computed\\u000a tomography, magnetic resonance imaging, and angiographic

Jean M. Butte; Francisco Pacheco; Antonieta Solar; Fernando J. Crovari; Nicolás P. Jarufe

2007-01-01

418

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

419

Surgical treatment of symptomatic cavernous malformations of the brainstem  

Microsoft Academic Search

Summary  \\u000a Introduction and objectives. Cavernous malformations (CM) at the level of the brainstem, continue to present a challenge in therapeutic terms and are\\u000a an important source of controversy. Here we present our experience and the results obtained by adopting surgical treatment.\\u000a \\u000a \\u000a Materials and methods. The results of a consecutive series of 17 patients were studied. The surgical intervention was designed

R. G. Sola; P. Pulido; J. Pastor; M. Ochoa; J. Castedo

2007-01-01

420

Gated magnetic resonance imaging of congenital cardiac malformations  

SciTech Connect

Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease.

Fletcher, B.D.; Jocobstein, M.D.; Nelson, A.D.; Riemenschneider, T.A.; Alfidi, R.J.

1984-01-01

421

Vascular Malformations of the Spine and Spinal Cord  

Microsoft Academic Search

Spinal vascular malformations are rare diseases with a wide variety of neurologic presentations. Their classification depends\\u000a on the differentiation of shunting versus nonshunting lesions, the latter being the spinal cord cavernomas. In the shunting\\u000a lesions, the next step in the proposed classification scheme is related to the feeding artery which can subdivide the dural\\u000a vascular shunts from the pial vascular

Timo Krings

2010-01-01

422

Cerebral arteriovenous malformation: prenatal and postnatal central blood flow dynamics  

Microsoft Academic Search

Using the Doppler technique, this study compared the prenatal and postnatal flow patterns of an infant with cerebral arteriovenous (AV) malformation. Fetal right ventricular end-diastolic dimension was 1.7 cm with right ventricular ejection equaling 66% of the combined cardiac output. Diastolic flow was reversed in the fetal aortic isthmus but forward-moving in the descending aorta, resulting in a watershed phenomenon.

D. J. Patton; J-C Fouron

1995-01-01

423

Volume measurement of cerebral arteriovenous malformations from angiography.  

PubMed

We designed software for measuring the volume of cerebral arteriovenous malformations from angiography and validated it against prescription volumes in radiosurgery. We aimed to create a model for the risk for complications as a function of volume, based on established outcome prediction models for Gamma Knife radiosurgery, but without the need for dose planning. We created an application for computing the volume of cerebral arteriovenous malformations from the intersection of two X-ray cones in stereotactic space. Volume measurements were compared with prescription volumes from dose planning, in phantoms and in patients treated with Gamma Knife radiosurgery for cerebral arteriovenous malformations. Previous studies of 1128 treated patients were used to calculate the risk for complication as a function of the nidus volume. In 63 patients volumes measured with either method correlated, R2 = 0.85. Volume as measured with the intersecting cone model (ICM) correlated with predicted Gamma Knife radiosurgery complication rate, R2 = 0.84. The ICM can thus be used for measurement of AVM volumes less than 10 cm3 from angiography. Outcome models from Gamma Knife radiosurgery may be applied, but with reduced exactness. Standardised AVM volume measurement is valuable for comparing outcome and for quantification of volume reduction after therapy, notably embolisation. Thus the optimal management plan may be selected in conjunction with diagnostic or therapeutic angiography. PMID:11071447

Söderman, M; Karlsson, B; Launnay, L; Thuresson, B; Ericson, K

2000-09-01

424

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

425

Congenital malformations of the central nervous system in spontaneous abortions.  

PubMed Central

A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn. PMID:775092

Creasy, M R; Alberman, E D

1976-01-01

426

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

427

OBESITY AND THE RISK AND DETECTION OF FETAL MALFORMATIONS  

PubMed Central

The incidence of obesity in pregnancy has increased over the past two decades, with nearly 50% of U.S. women aged 15–49 are classified as overweight or obese. Obesity (independent of diabetes) among gravidae poses unique risks which extend towards the fetus, with several large population-based analyses demonstrating independent increased risks for fetal malformations including neural tube defects, cardiac anomalies, and orofacial clefts as well as stillbirth and macrosomia. Unfortunately, several lines of evidence also suggest that the quality of the prenatal fetal anatomic survey and certain aspects of prenatal diagnostic screening programs are significantly limited. The net effect is that among obese gravidae, the increased risk of fetal anomalies is further offset by a concomitant diminished ability to sonographically detect such malformation in the prenatal interval. The purpose of this summary review is to systematically examine the evidence suggesting an increased risk of fetal malformations in obese gravidae, the contributing role of diabetes, and the limitations of prenatal diagnostic and sonographic screening among this at-risk population. PMID:22713503

RACUSIN, Diana; STEVENS, Blair; CAMPBELL, Genevieve; AAGAARD-TILLERY, Kjersti

2012-01-01

428

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.  

PubMed

A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent clinical features included moderate-to-severe mental retardation, progressive dwarfism of postnatal onset, a peculiar facies characterized by long palpebral fissures, with eversion of the lateral third of the lower eyelids, arched eyebrows, broad and depressed nasal tip, large prominent earlobes, short fifth fingers, abnormal dermatoglyphics including absence of digital triradius c or d, and frequent otitis media in infancy. Inconsistent abnormalities included epicanthal folds, cleft or high-arched palate, widely spaced teeth, low occipital hair line, scoliosis, and dislocation of the hip joint. Neither familial occurrence nor parental consanguinity was noted. The etiology of the malformation syndrome remains unknown. PMID:7277096

Niikawa, N; Matsuura, N; Fukushima, Y; Ohsawa, T; Kajii, T

1981-10-01

429

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

430

Sudden death and the forensic evaluation of neurocutaneous syndromes  

Microsoft Academic Search

On occasion the forensic evaluation of individuals who have died suddenly and unexpectedly may reveal intracranial vascular abnormalities such as capillary, venous- and arteriovenous malformations. Such vascular abnormalities may form part of a heterogeneous group of disorders called neurocutaneous syndromes and involve the skin, nervous system and other organ systems. These unusual conditions include Sturge–Weber, Osler–Weber–Rendu, Klippel–Trenaunay, Von Hippel-Lindau, Proteus

Lisbeth Jensen; Karen J. Heath; Grace Scott; Roger W. Byard

2009-01-01

431

Congenital pancreatic cyst with Ivemark II syndrome: a rare case.  

PubMed

An infant with congenital pancreatic cyst with Ivemark II syndrome is reported because it is a rare association. The infant had associated situs inversus, asplenia, and complex congenital heart disease. The pancreatic cyst was successfully managed by cystoduodenostomy because of connection to the biliary tract. The infant succumbed as a result of heart failure at age 2 months. Prognosis depends on the presence of life-threatening malformations. PMID:22424375

Chahed, Jamila; Mekki, Mongi; Aloui, Sameh; Hidouri, Saida; Ksia, Amine; Krichène, Imed; Maazoun, Kais; Sahnoun, Lassaad; Belghith, Mohsen; Salem, Randa; Njim, Leila; Nouri, Abdellatif

2012-03-01

432

Sudden infant death, Williams-Beuren-Syndrom oder beides?  

Microsoft Academic Search

SummaryThe Williams-Beuren syndrome is a genetic disorder caused by a deletion of the elastin gene mapped on chromosome 7 (7q11.23). This results in multi-organ malformation, mental retardation and generalised elastin arteriopathy, which can lead to cardiac and vascular complications and to sudden death. We present two cases in which a postmortem examination was initially carried out with the presumptive diagnosis

B. Zinka; A. Büttner; S. Milz; E. Rauch; R. Penning

2003-01-01

433

A mouse model for Meckel syndrome type 3  

Microsoft Academic Search

Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease. Other malformations associated with MKS3 include cystic changes in the liver, polydactyly, and brain abnormalities (occipital encephalocele, hydrocephalus, and Dandy Walker-type cerebellar anomalies). The disorder is hypothesized to be caused by defects in primary cilia. In humans, the underlying mutated gene,

S. A. Cook; G. B. Collin; R. T. Bronson; J. K. Naggert; D. P. Liu; E. C. Akeson; M. T. Davisson

2009-01-01

434

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

PubMed

Dandy-Walker malformation (DWM), the most common human cerebellar malformation, has only one characterized associated locus. 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

2009-09-01

435

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

436

Bill malformations in double-crested cormorants with low exposure to organochlorines  

SciTech Connect

Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.

Kuiken, T.; Fox, G.A.; Danesik, K.L.

1999-12-01

437

Orthodeoxia and postural orthostatic tachycardia in patients with pulmonary arteriovenous malformations: a prospective 8-year series.  

PubMed

Postural changes in 258 patients with pulmonary arteriovenous malformations (PAVMs) reviewed between 2005 and 2013 were evaluated prospectively using validated pulse oximetry methods. Of the 257 completing the test, 75 (29%) demonstrated orthodeoxia with an oxygen saturation fall of at least 2% on standing. None described platypnoea (dyspnoea on standing). The heart rate was consistently higher in the erect posture: 74 (29%) had a postural orthostatic tachycardia of ?20?min(-1), and in 25 (10%) this exceeded 30?min(-1). Orthostatic tachycardia was more pronounced in PAVM patients than controls without orthodeoxia (age-adjusted coefficient 5.5 (95% CIs 2.6, 8.4) min(-1), p<0.001). For PAVM patients, the age-adjusted pulse rise was 0.79?min(-1) greater for every 1% greater drop in oxygen saturation on standing (p<0.001). In contrast to the postural orthostatic tachycardia syndrome, in this population, there was a trend for more pronounced orthostatic tachycardia to be associated with better exercise tolerance. PMID:24713588

Santhirapala, V; Chamali, B; McKernan, H; Tighe, H C; Williams, L C; Springett, J T; Bellenberg, H R; Whitaker, A J; Shovlin, C L

2014-11-01

438

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

439

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

440

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

441

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. ...

442

Klinefelter syndrome  

MedlinePLUS

47 X-X-Y syndrome ... have two XX chromosomes. Boys normally have an X and a Y chromosome. Klinefelter syndrome is when ... boy is born with at least one extra X chromosome. Usually, this occurs due to one extra ...

443

Sjogren's Syndrome  

MedlinePLUS

... the prognosis? What research is being done? Clinical Trials Organizations Additional resources from MedlinePlus What is Sjögren's Syndrome? Sjögren's syndrome is an autoimmune disorder in which immune cells attack and destroy the glands that produce ...

444

Paraneoplastic Syndromes  

MedlinePLUS

... the prognosis? What research is being done? Clinical Trials Organizations What are Paraneoplastic Syndromes? Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as ...

445

Sjögren's Syndrome  

MedlinePLUS

... syndrome sometimes develops as a complication of another autoimmune disorder. Symptoms vary in type and intensity, but many ... syndrome is not known, but it is an autoimmune disorder. People with this disease have abnormal proteins in ...

446

Asperger Syndrome  

MedlinePLUS

... and symptoms of Asperger syndrome is given the diagnosis of Autism Spectrum Disorder (ASD). If a person was diagnosed with Asperger syndrome before May 2013, his or her diagnosis stays the same, but can be considered ASD ...

447

Asperger Syndrome  

MedlinePLUS

... is Asperger syndrome? Asperger syndrome (AS) is an autism spectrum disorder (ASD), one of a distinct group ... and stereotyped patterns of behavior. Other ASDs include autistic disorder, childhood disintegrative disorder, and pervasive developmental disorder not ...

448

Thoracolumbar spinal vascular malformation as a rare cause of isolated intraventricular hemorrhage.  

PubMed

Spinal vascular malformations are rare vascular lesions that most frequently present with back pain, radiculopathy, and/or myelopathy. Neurological decline is typically secondary to progressive radiculopathy, myelopathy, venous thrombosis, and stroke. Few case reports have described thoracolumbar spinal vascular malformations that present with both subarachnoid and intraventricular hemorrhage. This is the first reported case of a thoracolumbar spinal vascular malformation presenting with isolated intraventricular hemorrhage on initial imaging followed by acute and fatal rehemorrhage. PMID:24784978

Marlin, Evan S; Entwistle, John J; Arnold, Michael A; Pierson, Christopher R; Governale, Lance S

2014-07-01

449

Combined laparoscopic and cystoscopic injection sclerotherapy for bladder venous malformation: a novel technique.  

PubMed

Treatment of vascular malformations of the urinary bladder can be challenging. We report a case of bladder venous malformation treated with sodium tetradecyl sulphate (STS 3%) sclerotherapy, using a combined cystoscopic and percutaneous transperitoneal laparoscopy guided approach. When cystoscopic views are poor, the laparoscopic approach is a useful adjunct to aid sclerotherapy of bladder venous malformation. This technique has not been previously described. PMID:22841403

Sinha, C K; Barnacle, A; Mushtaq, I; Cherian, A

2013-02-01

450

Papillary endothelial hyperplasia in association with vascular malformation of the hand.  

PubMed

Vascular malformations are uncommonly encountered in the hand. This case report involves the unique case of a rapidly enlarging mass associated with a known vascular malformation. Final pathology revealed dense reactive fibrous tissue, with prominent blood vessels, consistent with a venous malformation and associated papillary endothelial hyperplasia. The intraoperative finding of two separately identifiable masses, one fibrotic and one vascular, has not previously been reported. PMID:24875342

Alves, Kristin; Bauer, Andrea; Jupiter, Jesse

2014-01-01

451

Aortic Runoff as a Sign of Intracranial Arteriovenous Malformation: Report of Two Cases  

PubMed Central

Background Intracranial arteriovenous malformation rarely causes pulmonary hypertension and congestive heart failure in the newborn. Its diagnosis is challenging because cardiomegaly may suggest an intra-cardiac structural lesion. Case Presentation We present two newborns, one 2-day-old male and the other 11-day-old female, with intracranial arteriovenous malformation and misdiagnosis of congenital heart disease. Conclusion Precise echocardiography revealed the secondary signs of cranial arteriovenous malformation and had the major role in early diagnosis. PMID:23724190

Moradian, Maryam; Nokhostin-Davari, Paridokht; Merajie, Mahmood; Pouraliakbar, Hamid-Reza

2013-01-01

452

Emerging role of contrast-enhanced MRI in diagnosing vascular malformations.  

PubMed

Vascular malformations comprise a diverse and rare group of lesions which generally pose a formidable treatment challenge. Requisite for optimal surgical planning are imaging modalities capable of delineating involved anatomy and malformation flow characteristics. In this regard, we and others have purported the advantages of contrast-enhanced MRI. Here, we review the current body of literature regarding the emerging of role of contrast enhanced MRI for the management of vascular malformations. PMID:25301311

Turley, Ryan S; Lidsky, Michael E; Markovic, Jovan N; Shortell, Cynthia K

2014-07-01

453

Complex thoracic malformations: is there an association between adolescent idiopathic scoliosis and pectus excavatum?.  

E-print Network

??Study Design: This is a retrospective review of 220 patients with adolescent idiopathic scoliosis (AIS).Objectives: When combined thoracic malformations occur scoliosis and pectus excavatum (PE)… (more)

Berdan, Elizabeth Ann

2013-01-01

454

Trematode infection causes malformations and population effects in a declining New Zealand fish.  

PubMed

1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global