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1

Macrocephaly–capillary malformation syndrome: Three new cases  

Microsoft Academic Search

Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly–Capillary Malformation (M–CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and\\/or

Inusha Panigrahi; Mani Bhushan; Mukesh Yadav; Niranjan Khandelwal; Pratibha Singhi

2

Macrocephaly-capillary malformation syndrome: three new cases.  

PubMed

Overgrowth syndromes can be associated with asymmetry, obesity and various vascular malformations. Macrocephaly-Capillary Malformation (M-CM) is a more recently defined overgrowth syndrome characterized by cutaneous capillary malformation occurring in association with macrocephaly with tendency to progressive enlargement, abnormalities of somatic growth with body asymmetry including brain asymmetry, developmental delay, typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, joint laxity, thickened subcutaneous tissue and 2/3 syndactyly of the toes. We evaluated three patients who demonstrated characteristic features of the disorder. Patients seen in the Genetic clinic of a tertiary care center were subjects of the analysis. We present three cases of overgrowth syndrome with common features of macrocephaly, capillary malformation, dysmorphic face and abnormal neurocognitive profile. These features are consistent with the newly defined M-CM syndrome. This condition must be differentiated from other overgrowth syndromes for appropriate surveillance for known complications and genetic counseling. We discuss the diagnostic criteria for the disorder and also recommend to include typical face with full cheeks, nevus flammeus of the nose and/or philtrum and upper lip, considering it as minor criterion on the basis of findings in present cases. One of the cases had bluish white iris which has not been described earlier. PMID:22029941

Panigrahi, Inusha; Bhushan, Mani; Yadav, Mukesh; Khandelwal, Niranjan; Singhi, Pratibha

2012-02-15

3

Arteriovenous Malformations and Other Vascular Malformation Syndromes  

PubMed Central

Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the heart. In the case of arteriovenous malformations, arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. Clinical consequences result from rupture and hemorrhage, from dramatically increased blood flow, or from the loss of capillary functions such as nutrient exchange and filtering function. These malformations can occur sporadically or as a component of inherited vascular malformation syndromes. In these and other hereditary vascular malformation syndromes, genetic studies have identified proteins and pathways involved in vascular morphogenesis and development. A common theme observed is that vascular malformations result from disruption in pathways involved in vascular stability. Here we review the vascular malformations and pathways involved in hereditary hemorrhagic telangiectasia, capillary malformation–arteriovenous malformation, cerebral cavernous malformations, and mucocutaneous venous malformations. PMID:23125071

Whitehead, Kevin J.; Smith, Matthew C. P.; Li, Dean Y.

2013-01-01

4

Four cases of trisomy 18 syndrome with limb reduction malformations.  

PubMed Central

Limb reduction malformations of the arms are well documented in the trisomy 18 syndrome. Four cases of trisomy 18 syndrome with limb reduction malformations of the legs are described and compared with the upper limb malformations. Images PMID:6492096

Christianson, A L; Nelson, M M

1984-01-01

5

The Microcephaly-Capillary Malformation Syndrome  

PubMed Central

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

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

2012-01-01

6

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

7

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

8

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

9

Surgical treatment of venous malformations in Klippel-Trénaunay syndrome  

Microsoft Academic Search

Purpose: Klippel-Trénaunay syndrome (KTS) is a complex congenital anomaly, characterized by varicosities and venous malformations (VMs) of one or more limbs, port-wine stains, and soft tissue and bone hypertrophy. Venous drainage is frequently abnormal because of embryonic veins, agenesis, hypoplasia, valvular incompetence, or aneurysms of deep veins. We previously reported on the surgical management of KTS. In this article, we

Audra A Noel; Peter Gloviczki; Kenneth J Cherry; Thom W Rooke; Anthony W Stanson; David J Driscoll

2000-01-01

10

Magnetic resonance imaging in the malformative syndromes with mental retardation  

Microsoft Academic Search

We reported on thirteen children affected with malformative syndromes associated with mental retardation. MRI examination showed in all of them different types of anomalies; agenesis of corpus callosum, ventricular dilatation and cerebral matter alterations were the most frequent findings. The authors give a brief description of the clinical reports and of the anomalies observed with MRI; they conclude that MRI

O. Gabrielli; U. Salvolini; G. V. Coppa; C. Catassi; R. Rossi; A. Manca; R. Lanza; P. L. Giorgi

1990-01-01

11

Syndromes and malformations associated with congenital heart disease in a population-based study  

Microsoft Academic Search

Congenital cardiac malformations are frequently associated with non-cardiac malformations and chromosomal anomalies. Management is therefore influenced by interventional needs for all of the various anomalies. We have studied the association of congenital heart disease with extracardiac anomalies in the relatively closed population of Malta, where echocardiographic screening of all syndromic\\/multiply malformed infants is routinely carried out. Malformations were classified by

Victor Grech; Miriam Gatt

1999-01-01

12

Congenital bilateral perisylvian syndrome (CBPS): do concomitant esophageal malformations indicate a poor prognosis?  

PubMed

Congenital bilateral perisylvian syndrome (CBPS) is a syndrome of cortical malformation characterized by faciopharyngoglossomasticatory diplegia. We report on two cases of CBPS with associated esophageal malformations and a poor mental and motor development. The association of CBPS and esophageal malformations may indicate a subgroup of patients with a very early prenatal injury, characterised by a bad prognosis due to severe cortical disorganization. However, it can not be excluded that the association of CBPS and esophageal malformation is purely coincidental. PMID:11508551

Küker, W; Friese, S; Riethmüller, J; Krägeloh-Mann, I

2000-12-01

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

Malformation syndromes caused by disorders of cholesterol synthesis  

PubMed Central

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

Porter, Forbes D.; Herman, Gail E.

2011-01-01

15

Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation  

Microsoft Academic Search

Blue rubber bleb nevus syndrome (BRBNS) is a rare disorder characterized by discrete venous malformations of varying size and appearance that are present on the skin and within the gastrointestinal tract. The characteristic cutaneous lesions consist of deep-blue, soft, rubbery blebs, which are easily compressible. A serious complication is gastrointestinal bleeding. Because venous malformations were described historically as cavernous hemangiomas,

Walter K Nahm; Sharon Moise; Lawrence F Eichenfield; Amy S Paller; Laura Nathanson; Denise M Malicki; Sheila Fallon Friedlander

2004-01-01

16

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

SciTech Connect

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

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

1995-07-03

17

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

18

Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children  

Microsoft Academic Search

We evaluated the frequency of renal malformations in relation to nonmosaic 45,X (group A, 45 patients, 54.9%) and mosaic\\/structural\\u000a abnormalities of X (group B, 37 patients, 45.1%) in 82 Turkish patients with Turner syndrome (TS). Ultrasonography of the\\u000a kidneys and collecting system was performed in all patients. Of the 82 patients, 31 had different renal malformations (37.8%).\\u000a Horse-shoe kidney was

Ilmay Bilge; Hulya Kayserili; Sevinc Emre; Ahmet Nayir; Aydan Sirin; Turgut Tukel; Firdevs Bas; Gulleyla Kilic; Seher Basaran; Hulya Gunoz; Memnune Apak

2000-01-01

19

Clinical syndromes of arteriovenous malformations of the transverse-sigmoid sinus.  

PubMed Central

Arteriovenous malformations or fistulae shunting arterial blood from branches of the external and internal carotid and vertebral arteries into the transverse-sigmoid sinus may produce different clinical syndromes. The literature is reviewed with 96 patients including six personal cases. Usually these malformations have a congenital origin and only in 4% of the series was there a previous history of a severe head injury. Clinical groups are defined and the role of angiography assessed. Direct surgical approach with occlusion or removal of the vascular malformation is the treatment of choice. Possible methods of treatment by selective embolization are discussed. Images PMID:1097602

Obrador, S; Soto, M; Silvela, J

1975-01-01

20

Genetics Home Reference: Microcephaly-capillary malformation syndrome  

MedlinePLUS

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

21

Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathology  

Microsoft Academic Search

A study of 11 autopsied cases of the cerebro-hepato-renal syndrome of Zellweger (ZS) is reported. All cases had severe, peristent congenital hypotonia, hepatic lobular disarray, renal cortical cysts and pulmonary hypoplasia. Many had cardiovascular malformations, hepatomegaly, cerebral cortical gyral maldevelopment and pancreatic islet hyperplasia. Additional, less frequent findings are delineated. Results of iron content studies of hepatic and renal tissues

Kennedy W. Gilchrist; Enid F. Gilbert; Stanley Goldfarb; U. Goll; Jurgen W. Spranger; John M. Opitz

1976-01-01

22

Type 2 congenital pulmonary airway malformation and congenital nephrotic syndrome: report of a new association.  

PubMed

Type 2 congenital pulmonary airway malformation (CPAM) has been reported in association with many other congenital anomalies. To the best of our knowledge, however, an association of type 2 CPAM with congenital nephrotic syndrome has not been heretofore reported. We present the 1st report of such an association in a boy who had a prenatal diagnosis of cystic lung malformation and was found to have congenital nephrotic syndrome (diffuse mesangial sclerosis) at 1 month of age. A prenatal ultrasonogram had also shown oligohydramnios, and additionally the child had cleft lip and palate. There was no family history of childhood renal or pulmonary disease, and genetic testing for genes mutated in congenital nephrotic syndrome was negative. PMID:23350653

Millington, Karmaine A; Mani, Haresh

2013-01-01

23

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

PubMed Central

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

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

2014-01-01

24

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

25

Pulmonary Varix Mimicking Pulmonary Arteriovenous Malformation in a Patient with Turner Syndrome  

Microsoft Academic Search

A 36-year-old asymptomatic female with Turner syndrome was referred for a 3-cm opacity of the left lung detected by routine chest X-ray. A computed tomography scan of the chest suggested a vascular lesion such as pulmonary arteriovenous malformation, and transcatheter embolotherapy was considered. The lack of a right-to-left shunt on contrast echocardiography led to suspect an alternate diagnosis. Magnetic resonance

Jacques-Olivier Maillard; Vincent Cottin; Bénédicte Etienne-Mastroïanni; Jean-Marc Frolet; Didier Revel; Jean-François Cordier

2007-01-01

26

Malformation syndrome with t(2;22) in a cancer family with chromosome instability.  

PubMed

A de novo unbalanced t(2;22)(q37;q11.2) [corrected], resulting in the deletion of the 22pter-q11 and 2q37-qter regions, was observed in a 12-year-old girl born with a congenital malformation syndrome and later displaying signs of neurologic impairment. Some of the clinical signs observed appear to overlap those found in subjects monosomic in the 22q11 region affected by the DiGeorge syndrome. The chromosomal rearrangement observed may be related to a familial cytogenetic instability that also gives rise to sustained cancer predisposition. PMID:2720635

Magnani, I; Larizza, L; Doneda, L; Weitnauer, L; Rizzi, R; Di Lernia, R

1989-04-01

27

Chiari Type I malformation yielded to the diagnosis of Crouzon syndrome  

PubMed Central

Chiari malformation Type I (CM-I) related to syndromic craniosynostosis in pediatric patients has been well-studied. The surgical management consists of cranial vault remodeling with or without posterior fossa decompression. There were also cases, in whom CM-I was diagnosed prior to the craniosynostosis in early childhood. We present a 16-year-old boy who admitted with symptoms related to CM-I. With careful examination and further genetic investigations, a diagnosis of Crouzon syndrome was made, of which the patient and his family was unaware before. The patient underwent surgery for posterior fossa decompression and followed-up for Crouzon's syndrome. To our knowledge, this is the only case report indicating a late adolescent diagnosis of Crouzon syndrome through clinical symptoms of an associated CM-I. PMID:24741262

Canpolat, Aydin; Akçakaya, Mehmet Osman; Altunrende, Emre; Özlü, Harun Mehmet; Duman, Hakan; Ton, Tu?rul; Akdemir, Osman

2014-01-01

28

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

PubMed Central

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

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

2014-01-01

29

[Non-syringomelic medullary syndrome with Arnold-Chiari malformation (author's transl)].  

PubMed

The authors present 15 observations of a medullary syndrome of the non-syringomelic type, in patients with Arnold-Chiari's malformation (type I; 13 times - type II; twice), verified surgically, and without severe malformations of the occipito-vertebral articulation. Brown-Sequard's disease was present in 6 cases, subacute combined degeneration in 2 cases, and pyramidal lesions were very predominant in two other cases. The last 5 cases had cordonal signs associated with signs of disturbance of the anterior horns in the medulla, affecting all four limbs, and more especially the lower limbs. In four cases the medullary cavity was exposed, and in two cases extended along the whole length of the cord up to the terminal cone. The literature is reviewed and diagnostic and pathogenic problems raised by these myelopathies are discussed. They merit systematic investigation. PMID:749125

Trillet, M; Joyeux, O; Lapras, C; Schott, B; Girard, P F

1978-01-01

30

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

PubMed Central

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

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

2007-01-01

31

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

32

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

PubMed Central

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

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

2014-01-01

33

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

PubMed

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

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

2014-12-01

34

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

PubMed Central

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

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

2010-01-01

35

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

PubMed Central

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

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

2014-01-01

36

Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis, and epicanthus inversus syndrome.  

PubMed

Blepharophimosis, ptosis, epicanthus-inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by narrow palpebral fissures and eyelid levator muscle defects. BPES is often associated to premature ovarian insufficiency (BPES type I). FOXL2, a member of the forkhead transcription factor family, is the only gene known to be mutated in BPES. Foxl2 is essential for maintenance of ovarian identity, but the developmental origin of the facial malformations of BPES remains, so far, unexplained. In this study we provide the first detailed account of the developmental processes leading to the craniofacial malformations associated to Foxl2. We show that, during development, Foxl2 is expressed both by Cranial Neural Crest Cells (CNCCs) and by Cranial Mesodermal Cells (CMCs), which give rise to skeletal (CNCCs and CMCs) and muscular (CMCs) components of the head. Using mice in which Foxl2 is selectively inactivated in either CNCCs or CMCs, we reveal that expression of Foxl2 in CNCCs is essential for the development of extraocular muscles. Indeed, inactivation of Foxl2 in CMCs has only minor effects on muscle development, whereas its inactivation in CNCCs provokes a severe hypoplasia of the levator palpabrae superioris (LPS) and of the superior and inferior oblique muscles. We further show that Foxl2 deletion in either CNCCs or CMCs prevents eyelid closure and induces subtle skeletal developmental defects. Our results provide new insights in the complex developmental origin of human BPES and could help to understand the origin of other ocular anomalies associated to this syndrome. PMID:25416281

Heude, Eglantine; Bellessort, Brice; Fontaine, Anastasia; Hamazaki, Manatsu; Treier, Anna-Corina; Treier, Mathias; Levi, Giovanni; Narboux-Nême, Nicolas

2014-11-21

37

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

PubMed

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

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

2010-03-01

38

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

39

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

40

Studies of malformation syndromes of man XXXXIA: anatomical studies in the Hanhart syndrome —A pathogenetic hypothesis  

Microsoft Academic Search

Two infants with the Hanhart syndrome, i.e. micrognathia, microglossia, terminal deficiency of all limbs and imperforate anus in one, were dissected and studied in detail. The interrelationships of the muscular and skeletal defects suggested that they were the result of incomplete rather than abnormal morphogenesis. We speculate that the oral and limb abnormalities resulted from deficient mesodermal proliferation caused by

Edward T. Bersu; James C. Pettersen; William J. Charboneau; John M. Opitz

1976-01-01

41

Selective bronchial intubation in a preterm infant with congenital cystic adenomatoid malformation and pulmonary air leak syndrome.  

PubMed

A preterm infant with congenital cystic adenomatoid malformation (CCAM) who developed a right-sided pulmonary air leak syndrome (pulmonary interstitial emphysema and bronchopleural fistula) following CCAM resection is reported. The pulmonary air leak syndrome was successfully ameliorated by intubating the right mainstem bronchus using a modified endotracheal tube that allowed selective ventilation of the left lung. The procedure was used successfully as rescue treatment to control the pulmonary air leak and to confirm the functional adequacy of the left lung prior to definitive operative surgery. PMID:22845869

Balegar V, Kiran Kumar; Barr, Peter A; McCauley, James Charles; Thomas, Gordon

2013-01-01

42

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

43

Dandy-Walker Malformation and Down Syndrome Association: Good Developmental Outcome and Successful Endoscopic Treatment of Hydrocephalus  

PubMed Central

The association of Down syndrome (DS) with Dandy Walker malformation (DWM) is extremely rare, with only 3 cases reported to date. All cases reported have shown a bad life expectancy and a bad developmental outcome. The present case reveals the possibility of a good prognosis. A 19-month-old male patient had successful endoscopic hydrocephalus treatment and a good developmental outcome. He probably had a better outcome because of good DS and DWM prognostic parameters. Our patient suffered from a DWM with vermis identification of 2 fissures and 3 lobes and a DS with a well-preserved tonus, which was not associated with other congenital systemic defects. We may conclude that the prognosis of DS-DWM association may separately depend on the degree of clinical and neurological involvement of each malformation. PMID:24932176

Nigri, Flavio; Cabral, Isaias Fiuza; da Silva, Raquel Tavares Boy; Pereira, Heloisa Viscaíno; Ribeiro, Carlos Roberto Telles

2014-01-01

44

Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.  

PubMed

An 8-year-old male presented with a cystic lung lesion in the left lower lobe, which was initially detected during surgery for a spontaneous rupture of the sigmoid colon at the age of 6 years. Tissue fragility and a tendency to bleed easily were noted during the surgery, which strongly suggested vascular Ehlers-Danlos syndrome. Although there was no abnormality in the hemostasis screening test, or any suspicious hereditary problem in his pedigree, genetic gene testing for vascular Ehlers-Danlos syndrome was recommended, and showed a de novo mutation in the COL3A1 gene. This report presents the case of patient with occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of lung, in addition to a duplicated infrarenal vena cava. PMID:23052746

Sa, Young Jo; Kim, Young Du; Moon, Seok-Whan; Kim, Chi-Kyung; Ki, Chang Seok

2013-12-01

45

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

PubMed Central

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

Farooqui, Azhar; AlAqeel, Alaa; Habib, Zakaria

2014-01-01

46

Prune belly syndrome with overlapping presentation of partial urorectal septum malformation sequence in a female newborn with absent perineal openings.  

PubMed

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

Farooqui, Azhar; AlAqeel, Alaa; Habib, Zakaria

2014-01-01

47

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?  

PubMed

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males. PMID:10706353

Manouvrier, S; Moerman, A; Coeslier, A; Devisme, L; Boute, O; Le Merrer, M

2000-02-28

48

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

49

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. PMID:25256560

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

2014-12-01

50

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 ...

51

Studies of malformation syndromes of man XXXXI B: Nosologic studies in the Hanhart and the Möbius syndrome  

Microsoft Academic Search

We reviewed etiologic and phenotypic aspects of those orofacial and limb anomalies usually diagnosed as Hanhart syndrome and Möbius syndrome, but also those described, among others, under names such as aglossia-adactylia syndrome, glosso-palatine ankylosis, ankyloglossia superior, peromelia and micrognathia, cleft palate\\/lateral synechiae syndrome, and the Charlie M. syndrome. By coding the degree of severity of the limb defects it was

J. Herrmann; P. D. Pallister; E. F. Gilbert; C. Viseskul; E. Bersu; J. C. Pettersen; J. M. Opitz

1976-01-01

52

Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant.  

PubMed

This case report describes the neuropathological findings in an autopsy case of short rib-polydactyly syndrome (SRPS). The patient was a Japanese female neonate who was born at 35 weeks of gestation and died soon after birth due to severe cardiopulmonary insufficiency. Clinical and radiological findings were most consistent with SRPS type I (Saldino-Noonan type). General autopsy findings included situs inversus, persistent truncus arteriosus and endocardial cushion defect, hypoplastic lungs and adrenal glands, and vaginal atresia. Fixed brain weight was 330 g. Three different categories of pathological changes were detected in the brain. These were as follows: (1) multiple cyst formation in the parenchyma, (2) primary malformations of the nervous and mesenchymal tissues, and (3) deposition of an unusual substance in the cerebral white matter. The multiple cysts or cavities in the parenchyma may be due to severe hypoxic-ischemic insults related to the congenital heart anomaly. The primary malformations were summarized as follows: (1) capillary telangiectasia of the pia mater and choroid plexus, (2) olfactory dysplasia with asymmetry, (3) focal cortical dysplasia in the frontal lobe and cerebellum, (4) olivary dysplasia, and (5) enlargement of the posterior part of the lateral ventricle. Dysplastic changes of the nervous tissue can be classified into the group of neuronal migration disorders. Although biochemical properties of the unknown substance were not determined, it is considered to be some product derived from an inborn error of metabolism. Morphological data of SRPS is still scarce, and pathognomonic changes have not yet been elucidated. The present data suggests that coexistence of the nervous and mesenchymal malformations may be highly characteristic of SRPS. PMID:16719409

Yamaguchi, K; Shimizu, K; Suzumura, H

2006-01-01

53

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5  

PubMed Central

We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound mutants (Pcsk5Vcc/null) completely recapitulate the Pcsk5Vcc/Vcc phenotype, as does an epiblast-specific conditional deletion of Pcsk5. The C470R mutation ablates a disulfide bond in the P domain, and blocks export from the endoplasmic reticulum and proprotein convertase activity. We show that GDF11 is cleaved and activated by PCSK5A, but not by PCSK5A-C470R, and that Gdf11-deficient embryos, in addition to having anteroposterior patterning defects and renal and palatal agenesis, also have a presacral mass, anorectal malformation, and exomphalos. Pcsk5 mutation results in abnormal expression of several paralogous Hox genes (Hoxa, Hoxc, and Hoxd), and of Mnx1 (Hlxb9). These include known Gdf11 targets, and are necessary for caudal embryo development. We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation. We propose that Pcsk5, at least in part via GDF11, coordinately regulates caudal Hox paralogs, to control anteroposterior patterning, nephrogenesis, skeletal, and anorectal development. PMID:18519639

Szumska, Dorota; Pieles, Guido; Essalmani, Rachid; Bilski, Michal; Mesnard, Daniel; Kaur, Kulvinder; Franklyn, Angela; El Omari, Kamel; Jefferis, Joanna; Bentham, Jamie; Taylor, Jennifer M.; Schneider, Jurgen E.; Arnold, Sebastian J.; Johnson, Paul; Tymowska-Lalanne, Zuzanna; Stammers, Dave; Clarke, Kieran; Neubauer, Stefan; Morris, Andrew; Brown, Steve D.; Shaw-Smith, Charles; Cama, Armando; Capra, Valeria; Ragoussis, Jiannis; Constam, Daniel; Seidah, Nabil G.; Prat, Annik; Bhattacharya, Shoumo

2008-01-01

54

VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5.  

PubMed

We have identified an ethylnitrosourea (ENU)-induced recessive mouse mutation (Vcc) with a pleiotropic phenotype that includes cardiac, tracheoesophageal, anorectal, anteroposterior patterning defects, exomphalos, hindlimb hypoplasia, a presacral mass, renal and palatal agenesis, and pulmonary hypoplasia. It results from a C470R mutation in the proprotein convertase PCSK5 (PC5/6). Compound mutants (Pcsk5(Vcc/null)) completely recapitulate the Pcsk5(Vcc/Vcc) phenotype, as does an epiblast-specific conditional deletion of Pcsk5. The C470R mutation ablates a disulfide bond in the P domain, and blocks export from the endoplasmic reticulum and proprotein convertase activity. We show that GDF11 is cleaved and activated by PCSK5A, but not by PCSK5A-C470R, and that Gdf11-deficient embryos, in addition to having anteroposterior patterning defects and renal and palatal agenesis, also have a presacral mass, anorectal malformation, and exomphalos. Pcsk5 mutation results in abnormal expression of several paralogous Hox genes (Hoxa, Hoxc, and Hoxd), and of Mnx1 (Hlxb9). These include known Gdf11 targets, and are necessary for caudal embryo development. We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation. We propose that Pcsk5, at least in part via GDF11, coordinately regulates caudal Hox paralogs, to control anteroposterior patterning, nephrogenesis, skeletal, and anorectal development. PMID:18519639

Szumska, Dorota; Pieles, Guido; Essalmani, Rachid; Bilski, Michal; Mesnard, Daniel; Kaur, Kulvinder; Franklyn, Angela; El Omari, Kamel; Jefferis, Joanna; Bentham, Jamie; Taylor, Jennifer M; Schneider, Jurgen E; Arnold, Sebastian J; Johnson, Paul; Tymowska-Lalanne, Zuzanna; Stammers, Dave; Clarke, Kieran; Neubauer, Stefan; Morris, Andrew; Brown, Steve D; Shaw-Smith, Charles; Cama, Armando; Capra, Valeria; Ragoussis, Jiannis; Constam, Daniel; Seidah, Nabil G; Prat, Annik; Bhattacharya, Shoumo

2008-06-01

55

Fluctuating Kluver-Bucy syndrome in a child with epilepsy due to bilateral anterior temporal congenital malformations.  

PubMed

An 11-year-old boy with epilepsy due to congenital bilateral anterior temporal lobe malformations presented with fluctuating Kluver-Bucy syndrome (KBS). Since the age of 2, he had experienced clusters of three or four daily complex partial seizures over 2-3 days in a month, followed by a seizure-free interval of 3-4 weeks. During the seizure-free period, the patient exhibited hyperorality, sniffing, irritability alternating with placidity, anxiety, unsolicited sexual gestures, and unusual calmness after eating. KBS features escalated up to the onset of the seizure cluster, and remitted after the seizures. Brain MRI revealed bilateral anterior temporal cortical dysplasia with enlarged and dysmorphic amygdalar-hippocampal complex. Brain [(18)F]fluorodeoxyglucose positron emission tomography PET showed bilateral anterior and mesial temporal hypometabolism. Video/EEG monitoring revealed independent right and left temporal lobe seizures. This is the first reported case of KBS due to congenital bitemporal malformations. Also, KBS behavior phenotype in this patient fluctuated, with escalation during the seizure-free period and remission induced by the monthly seizure cluster. This fluctuating pattern could represent forced normalization. PMID:17218157

Pestana, Elia M; Gupta, Ajay

2007-03-01

56

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

PubMed Central

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

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

2013-01-01

57

The prune belly syndrome in a female foetus with urorectal septum malformation sequence: a case report on a rare entity with an unusual association.  

PubMed

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

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

2013-08-01

58

Anorectal malformations.  

PubMed

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

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

59

Anorectal malformations  

PubMed Central

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

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

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

Amphibian malformations  

USGS Publications Warehouse

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

National Wildlife Health Center

1998-01-01

63

Severe desaturation while attempting one-lung ventilation for congenital cystic adenomatoid malformation with respiratory distress syndrome in neonate -A case report-.  

PubMed

There are many methods for achieving one-lung ventilation (OLV) during thoracic surgery in neonates and the accuracy of OLV may affect postoperative outcome. The authors have performed OLV using a 5 Fr Arndt endobronchial blocker (AEB, Cook Inc., Bloomington, IN, USA) on a neonate diagnosed with congenital cystic adenomatoid malformation and respiratory distress syndrome (RDS) associated with marked mediastinal shift. In spite of sufficient preoxygenation, sudden and severe fall in oxygen saturation had occurred. Since neonates with RDS may develop sudden and severe desaturation, rapid intubation with anticipation of potential difficulty is necessary as well as sufficient preoxygenation. PMID:23904945

Seok, Ji-Hye; Kim, Eun-Ju; Ban, Jong-Seouk; Lee, Sang-Gon; Lee, Ji-Hyang; Seo, Da-Mi; Shim, Kwang-Seok

2013-07-01

64

Severe desaturation while attempting one-lung ventilation for congenital cystic adenomatoid malformation with respiratory distress syndrome in neonate -A case report-  

PubMed Central

There are many methods for achieving one-lung ventilation (OLV) during thoracic surgery in neonates and the accuracy of OLV may affect postoperative outcome. The authors have performed OLV using a 5 Fr Arndt endobronchial blocker (AEB, Cook Inc., Bloomington, IN, USA) on a neonate diagnosed with congenital cystic adenomatoid malformation and respiratory distress syndrome (RDS) associated with marked mediastinal shift. In spite of sufficient preoxygenation, sudden and severe fall in oxygen saturation had occurred. Since neonates with RDS may develop sudden and severe desaturation, rapid intubation with anticipation of potential difficulty is necessary as well as sufficient preoxygenation. PMID:23904945

Seok, Ji-Hye; Ban, Jong-Seouk; Lee, Sang-Gon; Lee, Ji-Hyang; Seo, Da-Mi; Shim, Kwang-Seok

2013-01-01

65

Turner syndrome patients with bicuspid aortic valves and renal malformations exhibit abnormal expression of X-linked inhibitor of apoptosis protein (XIAP).  

PubMed

Abstract Objective: We analyzed mRNA expression of X-linked inhibitor of apoptosis protein (XIAP) in patients with Turner syndrome (TS) and examined its association with phenotypic features. Subjects and methods: XIAP mRNA expression levels were investigated in 98 patients with TS in total RNA extracted from blood leucocytes by real time quantitative polymerase chain reaction. Results: Levels of XIAP mRNA were significantly lower in patients with bicuspid aortic valves (BAV; n=13) than those without (log XIAP -1.17±0.3 vs. -0.94±0.2, p=0.002). Significantly higher expression of XIAP mRNA was seen in patients with a mosaic karyotype and renal malformations (log XIAP -0.79±0.3 vs. -1.0±0.3, p=0.03). No correlations were seen between XIAP and other manifestations. Conclusion: Abnormal expression of XIAP may be an important underlying mechanism in the development of BAV and renal malformations in TS. However, abnormal XIAP mRNA expression, as determined from peripheral mononuclear cells, does not appear to explain all the somatic and visceral stigmata of TS. PMID:25389989

Jevalikar, Ganesh S; Zacharin, Margaret; White, Mary; Yau, Steven W; Li, Winnie; Ijspeert, Charlotte; Russo, Vincenzo C; Werther, George A; Sabin, Matthew A

2014-11-12

66

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

67

Vascular malformations revisited.  

PubMed

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

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

2015-01-01

68

Spinal cord malformations.  

PubMed

Malformations of the spinal cord are one of the most frequent malformations. They should be clearly divided into two completely different families of malformations: open dysraphisms and occult dysraphisms. Open dysraphism mostly consists in myelomeningocele (MMC). Its incidence is 1/1000 live births with a wide variation. Folic acid supplementation has been shown to reduce its risk. In most cases, the diagnosis is done prenatally by serum screening and ultrasound and may lead to termination of pregnancy. In case of decision to continue pregnancy, surgical treatment must be achieved during the first days of life, and in 50 to 90% of cases, a ventricular shunt must be installed. The follow-up of these children must be continued throughout life looking for late complications (Chiari II and syringomyelia, vertebral problems, neuropathic bladder, tethered cord). Occult dysraphisms are a heterogeneous group of malformations. Lipomas (filum and conus) are the most frequent and their treatment remains controversial. Diastematomyelia, neurenteric cysts, dermal sinus, and more complex forms (Currarino syndrome) belong to this group. Most of them can and must be diagnosed prenatally or at birth by careful examination of the lower back for the cutaneous stigmata of the disease to decrease the risk of neurological, urological, or orthopedic permanent handicap. PMID:23622306

Zerah, Michel; Kulkarni, Abhaya V

2013-01-01

69

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

PubMed

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

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

2014-03-01

70

A novel locus for split-hand\\/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3  

Microsoft Academic Search

Split-hand\\/foot malformation (SHFM) associated with aplasia of long bones, SHFLD syndrome or Tibial hemimelia-ectrodactyly\\u000a syndrome is a rare condition with autosomal dominant inheritance, reduced penetrance and an incidence estimated to be about\\u000a 1 in 1,000,000 liveborns. To date, three chromosomal regions have been reported as strong candidates for harboring SHFLD syndrome\\u000a genes: 1q42.2–q43, 6q14.1 and 2q14.2. We characterized the phenotype

Karina Lezirovitz; Sylvia Regina Pedrosa Maestrelli; Nelson Henderson Cotrim; Paulo A. Otto; Peter L. Pearson; Regina Celia Mingroni-Netto

2008-01-01

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

[Malformations of the esophagus: diagnosis and therapy].  

PubMed

Esophageal malformations are rare and can occur sporadically or as a component of various syndromes. The variations and classifications are manifold. With the available modern operation techniques most malformations can be resolved with good results. However, esophageal malformations are often combined with further malformations which limit the prognosis. The separation of the trachea and esophagus after gastrulation is not yet completely researched. The results so far indicate that the localized expression of various homeodomain transcription factors is essential for normal development of the trachea and esophagus. PMID:23423505

Falkeis, C; Hager, T; Freund-Unsinn, K; Wohlschläger, J; Veits, L; Hager, J

2013-03-01

73

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

74

The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations The so-called Marshall-Smith syndrome  

Microsoft Academic Search

A new case of the syndrome of “accelerated skeletal maturation, facial dysmorphism, failure to thrive and psychomotor retardation” is presented. The syndrome was noted in the neonatal period. The diagnosis can be readily suggested by the radiologist because ossification centers show exceptionally early maturation. This case history increases to at least five the number of cases so far reported following

M. Hassan; T. Sutton; K. Mage; J. M. Limal; R. Rappaport

1976-01-01

75

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

PubMed Central

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

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

2010-01-01

76

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

77

Fetal polymorphisms at the ABCB1-transporter gene locus are associated with susceptibility to non-syndromic oral cleft malformations  

PubMed Central

ATP-binding cassette (ABC) proteins in the placenta regulate fetal exposure to xenobiotics. We hypothesized that functional polymorphisms in ABC genes influence risk for non-syndromic oral clefts (NSOC). Both family-based and case–control studies were undertaken to evaluate the association of nine potentially functional single-nucleotide polymorphisms within four ABC genes with risk of NSOC. Peripheral blood DNA from a total of 150 NSOC case-parent trios from Singapore and Taiwan were genotyped, as was cord blood DNA from 189 normal Chinese neonates used as controls. In trios, significant association was observed between the ABCB1 single-nucleotide polymorphisms and NSOC (P<0.05). Only ABCB1 rs1128503 retained significant association after Bonferroni correction (odds ratio (OR)=2.04; 95% confidence interval (CI)=1.42–2.98), while rs2032582 and rs1045642 showed nominal significance. Association with rs1128503 was replicated in a case–control analysis comparing NSOC probands with controls (OR=1.58; 95% CI=1.12–2.23). A comparison between the mothers of probands and controls showed no evidence of association, suggesting NSOC risk is determined by fetal and not maternal ABCB1 genotype. The two studies produced a combined OR of 1.79 (95% CI=1.38–2.30). The T-allele at rs1128503 was associated with higher risk. This study thus provides evidence that potentially functional polymorphisms in fetal ABCB1 modulate risk for NSOC, presumably through suboptimal exclusion of xenobiotics at the fetal–maternal interface. PMID:23443032

Omoumi, Ardeshir; Wang, Zihua; Yeow, Vincent; Wu-Chou, Yah-Huei; Chen, Philip K; Ruczinski, Ingo; Cheng, Joanne; Cheah, Felicia S H; Lee, Caroline G; Beaty, Terri H; Chong, Samuel S

2013-01-01

78

Multifocal and Metameric Spinal Cord Arteriovenous Malformations  

PubMed Central

Summary We describe 19 (16.0%) multiple vascular malformations (AVMs) in 119 spinal cord arteriovenous malformations (SCAVMs). The associated lesions were eight vertebral vascular malformations, two cutaneous, four limbs, four radicular AVMs, three bifocal SCAVMs; one patient had a bifocal cord lesion associated with vertebral and limb localisations. Various syndromic associations were seen: nine Cobb, two Klippel-Trenaunay-Weber, one Parkes Weber. An additional subgroup of unclassified associations is constituted by seven cases with bifocal intradural uni or multimetameric lesions. In our SCAVMs series, the incidence of multiple vascular lesions is high, in particular multifocal intradural malformations. Metameric distribution is the most frequent type of multiplicity. Identification of the myelomeric level involved in SCAVM allows segmental link between various lesions of mesodermal or neural crest origin to be discussed. PMID:20670488

Matsumaru, Y.; Pongpech, S.; Laothamas, J.; Alvarez, H.; Rodesch, G.; Lasjaunias, P.

1999-01-01

79

Additional congenital defects in anorectal malformations  

Microsoft Academic Search

From 1974 until 1995 a total of 264 (141 ?, 123 ?) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of

E. A. M. Hassink; P. N. M. A. Rieu; B. C. J. Hamel; R. S. V. M. Severijnen; F. H. J. M. van der Staak; C. Festen

1996-01-01

80

Management of Pulmonary Arteriovenous Malformations  

PubMed Central

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.

2011-01-01

81

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 ...

82

Malformations of cortical development  

PubMed Central

Background Malformations of cortical development (MCD) are increasingly recognized as an important cause of epilepsy and developmental delay. MCD encompass a wide spectrum of disorders with various underlying genetic etiologies and clinical manifestations. High resolution imaging has dramatically improved our recognition of MCD. Review Summary This review will provide a brief overview of the stages of normal cortical development, including neuronal proliferation, neuroblast migration, and neuronal organization. Disruptions at various stages lead to characteristic MCD. Disorders of neurogenesis give rise to microcephaly (small brain) or macrocephaly (large brain). Disorders of early neuroblast migration give rise to periventricular heterotopia (neurons located along the ventricles), whereas abnormalities later in migration lead to lissencephaly (smooth brain) or subcortical band heterotopia (smooth brain with a band of heterotopic neurons under the cortex). Abnormal neuronal migration arrest give rise to over-migration of neurons in cobblestone lissencephaly. Lastly, disorders of neuronal organization cause polymicrogyria (abnormally small gyri and sulci). This review will also discuss the known genetic mutations and potential mechanisms that contribute to these syndromes. Conclusion Identification of various gene mutations has not only given us greater insight into some of the pathophysiologic basis of MCD, but also an understanding of the processes involved in normal cortical development. PMID:18469675

Pang, Trudy; Atefy, Ramin; Sheen, Volney

2012-01-01

83

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

84

MALFORMATIONS, MALFORMATIONS EVERYWHERE ... Prepared by Juan Swanepoel & Marieka Gryzenhout  

E-print Network

afflicted by malformation symptoms are commercial pistachio in Iran and the South African native tree karee. Malformations of pistachio are found to be caused by a phytoplasma, but the causal agent for karee is still to the same foe as its relatives mango and pistachio ­ malformations (Fig. 1a, b). #12;20 Fig. 1 Malformations

85

Diffuse malformations of cortical development.  

PubMed

Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. PMID:23622213

Bahi-Buisson, Nadia; Guerrini, Renzo

2013-01-01

86

[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

87

Congenital Hepatic Vascular Malformations  

Microsoft Academic Search

\\u000a Congenital hepatic vascular malformations are rare entities that result in abnormal shunting of blood through the liver. Three\\u000a different types of shunting can occur: arteriovenous (hepatic artery to hepatic vein), arterioportal (hepatic artery to portal\\u000a vein) and portovenous (portal vein to hepatic vein). Malformations result from alterations in the formation of blood vessels\\u000a during fetal development and can occur as

Guadalupe Garcia-Tsao

88

Fetal bronchopulmonary malformations.  

PubMed

Abstract Introduction: Fetal body tumors are rare, but the ability to diagnose them has improved over recent years. Most masses discovered in the chest results from fetal bronchopulmonary malformations, such as congenital cystic adenomatoid malformation and bronchopulmonary sequestration. Congenital cystic adenomatoid malformation and bronchopulmonary sequestration have a reported incidence of 50% and 33% of all prenatally diagnosed lung lesions, respectively. Material and methods: Retrospective analysis of the congenital cystic adenomatoid malformation and bronchopulmonary sequestration cases diagnosed or surveilled at our department, between January 2003 and March 2013. Prenatal examination, evolution, management and patient outcome were analyzed. Results: A total of 918 fetal malformations were diagnosed at our hospital, 17 of them representing fetal bronchopulmonary malformations. The majority were diagnosed during the second trimester and stabilized or regressed during the third trimester of pregnancy. The pregnancies and deliveries had no other relevant findings or complications, except in three cases. Nine children required surgery. All of the children are healthy and have a normal development, with regular surveillance by the pediatricians. Discussion: The majority of these fetal lung masses are isolated findings that partially regress during intrauterine life. With adequate postnatal surveillance and eventual surgery the prognosis is good. PMID:25394612

Nunes, Carla; Pereira, Isabel; Araújo, Cláudia; Santo, Susana Ferreira; Carvalho, Rui Marques; Melo, Antonieta; Graça, Luís Mendes

2014-12-01

89

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

90

Cavernous malformations in pregnancy.  

PubMed

Cavernous malformation is a relatively rare disease, but is important in the etiology of cerebral hemorrhage in pregnant and puerperal women. The risk of bleeding is particularly high in patients with a previous history of bleeding, patients with a family history of cavernous malformations, and patients with the causative cerebral cavernous malformation gene. Cavernous malformations are more likely to bleed or to increase in size during pregnancy, under the influence of female hormones and vascular growth factors such as vascular endothelial growth factor. We report our strategy for the treatment of cavernous malformations in pregnant women, with reference to the relevant literature. Asymptomatic patients and those with mild symptoms are usually followed up conservatively by magnetic resonance imaging, without active treatment, but surgical treatment is indicated in patients with severe or progressive symptoms; surgery should also be considered in patients with mild symptoms having risk factors for bleeding. If surgical treatment is selected, the operation plan needs to be devised in collaboration with the specialties of anesthesiology and obstetrics and gynecology, rather than by the brain surgeon alone, in view of the possibility of occurrence of complications specific to pregnant women, such as complications related to weight gain and difficulty in securing the airway, which develop during the perioperative period. PMID:23979052

Yamada, Shuichi; Nakase, Hiroyuki; Nakagawa, Ichiro; Nishimura, Fumihiko; Motoyama, Yasushi; Park, Young-Su

2013-01-01

91

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

92

Large plaque-like glomuvenous malformation (glomangioma) simulating venous malformation.  

PubMed

Glomuvenous malformations and venous malformations are vascular lesions that can be distinguished on the basis of clinical and pathological features. A vascular lesion of the skin and superficial and deep soft tissues of a lower limb in a 5-year-old child is described. The clinical and radiological features, including skeletal muscle involvement, were typical of venous malformation, whereas the histopathological features were those of a glomuvenous malformation. The clinical and histopathological features are briefly discussed. PMID:16716158

Vercellino, N; Nozza, P; Oddone, M; Bava, G L

2006-07-01

93

Genetics Home Reference: Costello syndrome  

MedlinePLUS

... with Costello syndrome is a childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. Neuroblastoma, a tumor ... hypertrophic ; hypotonia ; malformation ; muscle tone ; mutation ; prevalence ; protein ; rhabdomyosarcoma ; short stature ; stature ; syndrome ; tissue ; transitional cell carcinoma ; ...

94

A developmental and genetic classification for midbrain-hindbrain malformations  

PubMed Central

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

Millen, Kathleen J.; Dobyns, William B.

2009-01-01

95

Variants in CUL4B are Associated with Cerebral Malformations.  

PubMed

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

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

2015-01-01

96

Congenital vascular malformations in scintigraphic evaluation  

PubMed Central

Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

Pilecki, Stanis?aw; Gierach, Marcin; Gierach, Joanna; ?wi?taszczyk, Cyprian; Junik, Roman; Lasek, W?adys?aw

2014-01-01

97

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

98

Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report.  

PubMed

Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of the congenital heart disease, urogenital malformation, skeletal anomalies and neural tube defects. We present a patient with spondylocostal dysostosis, who also had type I split cord malformation, tethered cord, scoliosis and double nipple on the right. Although the association of spondylocostal dysostosis and type I split cord malformation is very rare, double nipples on one side is no previously reported. PMID:23546915

Yilmaz, Muhammet Bahad?r; Kaymak, Aysegul; Kurt, Gokhan; Percin, Ferda Emriye; Baykaner, Kemali

2013-01-01

99

The malformations of the urinary system in autosomal disorders.  

PubMed

Data from the world literature about the pathology of the urinary system in autosomal chromosomal disorders are analyzed and compared with our own morphological investigations of this system in 63 cases of chromosomal disorders (Patau's, Edwards', Down's, Orbeli's, Wolf-Hirschhorn's syndromes, partial trisomy B and inversion of chromosome 2). The urinary system is most frequently involved in "cat-eye", triploidy, Orbeli's, Patau's and Edwards' syndromes. All known malformations of the urinary system are observed in children with chromosomal diseases, except infantile polycystic kidney and medullary "sponge" kidney. The authors recognize specific and nonspecific abnormalities of the urinary system. Nonspecific abnormalities, as simple renal dysgenesis, may be observed in all chromosomal disorders. Specific abnormalities are found only in certain chromosomal diseases. These malformations are an excess of embryonal lobulation of the kidney with the increase of its weight and cystic changes (Patau's syndrome), crossed renal ectopy with fusion and horseshoe kidney (Edwards' syndrome), unilateral renal agenesis (Orbeli's syndrome), hypospadia (Wolf-Hirschhorn's syndrome). A possible pathogenesis of malformations of the urinary system in chromosomal disorders is discussed. PMID:127413

Kravtzova, G I; Lazjuk, G I; Lurie, I W

1975-10-20

100

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

101

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

102

Chiari II Malformation and Syringomyelia  

Microsoft Academic Search

The Chiari II malformation was described at the end of the nineteenth century (1891–1896) by Hans Chiari, a German pathologist,\\u000a as a congenital malformation in a post-mortem examination of a child who died from a constellation of malformations including\\u000a prolapse of the cerebellum, part of the brain stem and part of the hindbrain, involving the upper part of the cervical

Spyros Sgouros

103

Uncommon cavernous malformation of the optic chiasm: a case report  

PubMed Central

Cavernous malformation (CM) is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI) revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans. PMID:22892383

2012-01-01

104

[Edwards' syndrome].  

PubMed

Two cases of Edwards' syndrome were observed. One occurred in a girl aged 6 months, the other in a male neonate. The two children showed a highly characteristic appearance of both the face and the extremities, so that it arouse suspicion of 18-chromosomy. The latter was confirmed by a postmortem cytogenetic examination. The syndrome also includes malformations of inner organs and microscopical architectural changes of organs, which occurred in both the cases described, but different in type. PMID:455513

Zuntová, A; Goetz, P; Macek, M; Karpenko, A

1979-05-01

105

Noonan syndrome  

PubMed Central

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

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

2014-01-01

106

Familial Cavernous Malformations (CCM) - Common Hispanic Mutation  

MedlinePLUS

... Learn More Familial Cavernous Malformations (CCM) - Common Hispanic Mutation What is Familial Cavernous Malformations (CCM)? Cerebral Cavernous ... Malformations (CCM)? CCM may be inherited due to mutations in one of three genes, CCM1, CCM2, or ...

107

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

108

Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality  

PubMed Central

Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only facility for the care of sick newborns in this country. Results. The overall prevalence of major congenital malformations among the live births was 59/10,000 live births and that among the stillbirths was 399/10,000 stillbirths. Circulatory system was the most commonly affected and accounted for 20% of all the major congenital malformations. Individually, Down syndrome (4.1/10, 000 live births) was the commonest major congenital malformation. There was a significant increase in the overall prevalence during the study period. Major congenital malformations were responsible for 14% of all neonatal death. Conclusions. Less than 1% of all live newborns have major congenital malformations with a preponderance of the malformations of the circulatory system. Major congenital malformations contribute significantly to the overall neonatal morbidity and mortality in this country. PMID:25006483

Singh, Keerti; Krishnamurthy, Kandamaran; Greaves, Camille; Kandamaran, Latha; Nielsen, Anders L.; Kumar, Alok

2014-01-01

109

[Congenital malformations of the lung, the radiologist's point of view].  

PubMed

Congenital lung malformations include a complex range of developmental abnormalities. Currently, most are diagnosed prenatally or during early childhood. They may, however, be discovered later, incidentally or in connection with non-specific symptoms, sometimes severe. Knowledge of their radiological appearances is necessary for their detection. Proper technique and analysis of cross-sectional imaging, computed tomography and magnetic resonance imaging, allow a definitive diagnosis in most patients and pre-treatment evaluation of surgical cases. This review will describe the radiological aspects of congenital pulmonary malformations, especially those which may occur in late childhood or adult life. When present, alternative diagnoses will be discussed. A distinction will be made between anomalies originating from bronchopulmonary structures, such as bronchial atresia, bronchogenic cyst, congenital lobar overinflation, cystic adenomatoid malformation, and forms related to vascular anomalies (vascular rings, anomalous left pulmonary artery, pulmonary underdevelopment, proximal interruption of the pulmonary artery, pulmonary sequestration, scimitar syndrome). PMID:22742469

Berteloot, L; Bobbio, A; Millischer-Bellaïche, A-E; Lambot, K; Breton, S; Brunelle, F

2012-06-01

110

Epileptic Disorder as the First Neurologic Manifestation of Blue Rubber Bleb Nevus Syndrome  

Microsoft Academic Search

Blue rubber bleb nevus syndrome is an uncommon neurocutaneous disorder characterized by distinctive vascular malformations on the body surface. Vascular malformations of internal organs (typically the gastrointestinal tract) are also frequently present. However, malformations of the central nervous system have only rarely been described. We report a case of blue rubber bleb nevus syndrome in a 5-month-old boy with cutaneous

Jésus Eiris-Punal; Monica Picon-Cotos; Augusto Viso-Lorenzo; Manuel Castro-Gago

2002-01-01

111

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.

112

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

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

Oesophageal atresia and Down syndrome  

Microsoft Academic Search

Infants with Down syndrome are known to have a high frequency of associated birth defects and some authors have suggested an association between Down syndrome and oesophageal atresia. We evaluated data from the Sicilian Registry of Congenital Malformations. Our fi nding of an incidence of 0.9% of oesophageal atresia in children with Down syndrome is more than 30 times higher

Sebastiano Bianca; Marco Bianca; Giuseppe Ettore

2002-01-01

115

Amphibian Population Declines and Malformations  

E-print Network

Journal of Science 49:70-71 Alberta Naturalist 11:1-4 Conservation Biology 7:355-362, 8:72-85, 10 growth ·Organophosphate Insecticides: Chemicals & Effects: Above plus malformations and altered behavior

Gray, Matthew

116

Macroglossia due to venous malformation  

Microsoft Academic Search

Massive vascular malformation involving tongue can cause significant functional impairment. In this report we describe a rare\\u000a case of extensive venous malformation involving tongue leading to obstructive sleep apnoea, inability to speak, eat, severe\\u000a discomfort due to exposure induced dryness and ulceration. Multimodality treatment approach comprising of sclerotherapy, electrocautery\\u000a and radiation therapy was used in this case.

T. S Anand; Ritu Mittal; T. B. Shashidhar; R. K. Sharma

2006-01-01

117

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

118

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

119

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

120

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  

Microsoft Academic Search

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

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

1994-01-01

121

Pulmonary arteriovenous malformations.  

PubMed

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

Shovlin, Claire L

2014-12-01

122

Symptoms of Sleep Disordered Breathing in Children with Craniofacial Malformations  

PubMed Central

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

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

2014-01-01

123

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

124

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

125

Prenatal diagnosis of lethal fetal malformation in Irish obstetric practice.  

PubMed

The diagnosis of lethal fetal malformation prenatally has profound implications for the pregnancy, the expectant couple and the medical care provided. The aim of this study was to investigate these implications and the medical factors pertaining to prenatal diagnosis of lethal fetal abnormality in current obstetric practice in Ireland. Data was collected prospectively from all cases of lethal fetal malformation diagnosed at the Fetal Medicine Unit, University College Hospital Galway from December 1997 to June 1998 inclusive. Diagnosis was made on the basis of ultrasound findings and invasive procedures (amniocentesis and chorionic villus sampling). Thirteen cases of lethal fetal abnormality were diagnosed: Edward's syndrome, Patau's syndrome, bilateral multicystic renal dysplasia, Potters sequence, hypoplastic left heart, anencephaly with craniorrhachischisis, lethal osteogenesis imperfecta and non-immune hydrops. Intrauterine death occurred in four cases. Four women had preterm complications e.g. preterm premature rupture of membranes, preterm labour, placental abruption, coagulopathy and severe pre-eclampsia. Three pregnancies progressed to term, two of which had a vaginal delivery and one had an elective caesarean section for malpresentation, all of which were early neonatal deaths. Three women chose to travel abroad in order to obtain a termination of pregnancy. Obstetric and neonatal dilemmas in management of lethal fetal malformation are discussed. PMID:10360111

Byrne, B M; Morrison, J J

1999-03-01

126

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

PubMed Central

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

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

2013-01-01

127

[Bilateral multilobular cystic adenomatoid malformation].  

PubMed

We reported a case of bilateral and multilobar Congenital Cystic Adenomatoid Malformation (C.C.A.M.) in a four months old child with good clinical results after resections of the lesions. This is a relatively rare form of pulmonary illness. The final prognosis, in those patients, depends on the type of malformation, the presence or absence of fetal hydrops and on the degree of affected lung. There have been reported a few cases of multiple affectation. We will consider the physiopathological aspects of the case, late clinical presentation and treatment and the positive surgical response based in the findings of the functional and anatomic imagen studys. PMID:8679395

Tristán, J U; Gracía Urgellés, X; Wiehoff Neumann, A; Hernández Briz Estévez Rosas, S; Ruiz, M P; Pavcovich Calvo, F M

1995-10-01

128

Abernethy malformation: a case report  

PubMed Central

Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4?weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients. PMID:22642663

2012-01-01

129

Reconstruction of middle ear malformations  

PubMed Central

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

Schwager, Konrad

2008-01-01

130

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

131

Management of perinatal lung malformations.  

PubMed

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

Macardle, C A; Kunisaki, S M

2015-02-01

132

Delleman syndrome: a case report and review.  

PubMed Central

A case of oculocerebrocutaneous syndrome is presented, to our knowledge the first to be reported in West Bank and Gaza. The child was of consanguinous parents. The clinical features of orbital cyst, periorbital cutaneous malformations, and cerebral malformations are described, together with a brief review of previous reports. The need for neurological follow-up of these cases is emphasised. Images PMID:1739706

De Cock, R; Merizian, A

1992-01-01

133

[Oto-vertebral syndrome].  

PubMed

The oto-vertebral syndrome is supposed to be caused by an early embryonic exogenous damage which at the same time affects the development of the ear and vertebral column and possibly also causes cardiac anomalies. Animal studies showed that the malformation syndrome originates in the 6th-7th week of embryonic development. The extent of the malformations of the ear and the vertebral column varies. Frequently seen are dysplasia of the external ear and dystopia and atresia of the external ear canal as well as vertebral malformations, mostly involving the thoracic region. Only 4 case reports have been published in the literature. The differential diagnosis includes Goldenhar-syndrome, oculo-vertebral syndrome. Thalidomide-syndrome and chromosomal aberrations. Therapy depends on the extent of the malformations. In case of atresia of the ear canal hearing is first of all improved with a hearing aid, operative procedures are to be planned later on. Child development is promoted with acustic stimulation. PMID:1225802

Böggering, B

1975-10-23

134

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities  

Technology Transfer Automated Retrieval System (TEKTRAN)

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

135

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

136

ESTIMATION OF INDEPENDENT NON-LINEAR DEFORMATION MODES FOR ANALYSIS OF CRANIOFACIAL MALFORMATIONS IN CROUZON MICE  

E-print Network

of cranial sutures and synchondroses caus- ing craniosynostosis. A decade ago the Crouzon gene was discovered Crouzon syndrome [1] is characterized by the prema- ture fusion of the cranial sutures and synchondroses, and provides a basis for linking the observed craniofacial malformations to the fusing of sutures. ICA revealed

Frangi, Alejandro

137

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

PubMed

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

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

2013-12-20

138

Syndrome of arachnomelia in Simmental cattle  

Microsoft Academic Search

BACKGROUND: The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964–1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia

Johannes Buitkamp; Bernhard Luntz; Reiner Emmerling; Horst-Dieter Reichenbach; Myriam Weppert; Benjamin Schade; Norbert Meier; Kay-Uwe Götz

2008-01-01

139

Axenfeld-Rieger syndrome and pseudotruncus arteriosus.  

PubMed

Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder. It is described as the association of malformation of the anterior chamber of the eye with extraocular anomalies. Cardiovascular defects are considered an occasional findings with this syndrome. We present a patient having the features of Axenfeld-Rieger syndrome with pseudotruncus arteriosus as a different cardiac association. PMID:17434214

Ay?enur Paç, F; Ca?da?, Deniz N; Necati Demir, M

2008-05-01

140

A Neonate with CLOVES Syndrome  

PubMed Central

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

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

2014-01-01

141

A Neonate with CLOVES Syndrome.  

PubMed

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

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

2014-01-01

142

Apert's Syndrome  

PubMed Central

ABSTRACT Apert's syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malforma­tion and symmetrical syndactyly of hands and feet. Craniofacial deformities include cone-shaped calvarium, fat forehead, prop-tosis, hypertelorism and short nose with a bulbous tip. Intraoral findings include high arched palate with pseudocleft, maxillary transverse and sagittal hypoplasia with concomitant dental crowding, skeletal and dental anterior open bite and several retained primary teeth. We report one such case of 14-year-old boy having all the classical features of Apert's syndrome with particular emphasis on brief review of genetic features. How to cite this article: Kumar GR, Jyothsna M, Ahmed SB, Lakshmi KRS. Apert's Syndrome. Int J Clin Pediatr Dent 2014;7(1):69-72. PMID:25206244

Jyothsna, Mandapati; Ahmed, Syed Basheer; Sree Lakshmi, Ketham Reddy

2014-01-01

143

Encephalocraniocutaneous Lipomatosis (Haberland Syndrome)  

Microsoft Academic Search

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

Sergiusz Jó?wiak; Ignacio Pascual-Castroviejo

144

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

145

Cryptic vascular malformations involving the brainstem  

SciTech Connect

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

Yeates, A.; Enzmann, D.

1983-01-01

146

Branchio-oto-renal syndrome.  

PubMed

Branchio-oto-renal syndrome (Melnick-Fraser syndrome) is a rare autosomal dominant disorder characterized by syndromic association of branchial cysts or fistulae along with external, middle & inner ear malformations and renal anomalies. Authors are reporting a 19 year male patient, who presented with profound deafness & low set "lop-ear" with right sided preauricular pit. USG abdomen revealed agenesis of the left kidney. PMID:19263692

Garg, A; Wadhera, R; Gulati, S P; Kumar, A

2008-11-01

147

Orbital arteriovenous malformation mimicking cavernous sinus dural arteriovenous malformation  

PubMed Central

AIMS—Orbital arteriovenous malformations (OAVM) are rare, mostly described with high flow characteristics. Two cases are reported with an OAVM of distinct haemodynamic abnormality. The clinical, angiographic features, and the management considerations are discussed.?METHODS—Case review of two patients with dural AVM (DAVM) who presented to referral neuro-ophthalmology and endovascular services because of clinical symptoms and signs consistent with a cavernous sinus dural AVM.?RESULTS—In each patient, superselective angiography revealed a small slow flow intraorbital shunt supplied by the ophthalmic artery. The transarterial and transvenous endovascular approaches to treat the malformation were partially successful. Although, the abnormal flow was reduced, complete closure of the DAVM could not be accomplished without significant risk of iatrogenic injury. Neither patient's vision improved after intervention.?CONCLUSION—A DAVM in the orbit can cause similar clinical symptoms and signs to those associated with a cavernous sinus DAVM. Even with high resolution magnetic resonance imaging, only superselective angiography can identify this small intraorbital slow flow shunt. The location in the orbital apex and the small size precludes a surgical option for treatment. The transarterial and transvenous embolisation options are limited.?? PMID:10873992

Huna-Baron, R.; Setton, A.; Kupersmith, M.; Berenstein, A.

2000-01-01

148

Scalp arteriovenous malformations in young  

PubMed Central

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

Gupta, Rakesh; Kayal, Akshat

2014-01-01

149

Jejunal intussusception in a 10-year-old boy with blue rubber bleb nevus syndrome  

Microsoft Academic Search

Jejunal intussusception in a Chinese 10-year-old boy affected by the blue rubber bleb nevus syndrome is presented and discussed. The syndrome is rare, sporadically found with possible dominant inheritance, and due to a gene mutation mapped on the short arm of chromosome 9. It presents with distinctive cutaneous and gastrointestinal malformations together with possible other organ involvement. Gastrointestinal malformations tend

Giampiero Beluffi; Piero Romano; Chiara Matteotti; Silvio Minniti; Franco Ceffa; Patrizia Morbini

2004-01-01

150

Blue Rubber Bleb Nevus Syndrome Associated with Consumption Coagulopathy: Treatment with Interferon  

Microsoft Academic Search

The blue rubber bleb nevus syndrome (BRBNS) is a rare vascular malformation syndrome with cutaneous and visceral lesions frequently associated with serious, even fatal bleeding. No systemic therapy is currently available. We report here a case with disseminated skin and gastrointestinal venous malformations and findings of disseminated intravascular coagulation that was treated with interferon ?. The disseminated intravascular coagulation manifestations

H. Apak; T. Celkan; A. Özkan; I. Yildiz; E. H. Aydemir; S. Ozdil; S. Kuruoglu

2004-01-01

151

Complicated pneumothorax and congenital lung cystic malformation.  

PubMed

Congenital cystic adenomatoid malformation, also named congenital pulmonary airway malformation (CPAM), is a congenital lung abnormality which is uncommon in adults. The usual radiological appearance of CPAM is a cystic space-occupying lesion. We present one case of CPAM with unusual clinical and radiological findings, a complicated spontaneous pneumothorax with intracystic haemorrhage with successful conservative initial treatment, despite acute haemodynamic instability. PMID:24694267

Attou, Rachid; Reper, Pascal

2014-04-01

152

North American Reporting Center for Amphibian Malformations  

NSDL National Science Digital Library

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

Center., Northern P.

1997-01-01

153

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

PubMed Central

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

2014-01-01

154

Cervical spine arterio venous malformation  

PubMed Central

We present an unusual case of a young patient who presented to our emergency department with a history of sudden onset of pain on the left side of the neck and numbness to the left arm after lifting a small weight. Patient continued to work as normal for approximately 30?min after the event and then attended the emergency department as numbness in the left arm was not resolving. On examination there was no sensorymotor deficit in the lower limbs but neurological deficits were found in the upper limbs which made us suspect a diagnosis of cervical spine injury/brachial plexus. The patient then rapidly developed numbness in both upper and lower limbs and eventually became aphasic and developed a rapid, shallow respiration and was unable to maintain the airway. The patient was then intubated and ventilated. The patient was then transferred to a neurosurgical centre after the relevant investigations was found to have an arteriovenous malformation of spinal cord. PMID:23349172

Parla, Giridhar; Ameh, Victor

2013-01-01

155

Chiari malformations: diagnosis, treatments and failures.  

PubMed

Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change. PMID:25418275

Abd-El-Barr, M M; Strong, C I; Groff, M W

2014-12-01

156

The upper airway: congenital malformations.  

PubMed

The upper airway extends from the nasal aperture to the subglottis and can be the site of multiple types of congenital malformations leading to anatomical or functional obstruction. This can cause severe respiratory distress. Newborns are obligate nasal breathers; therefore nasal obstruction can lead to airway compromise and respiratory distress. The etiologies are varied and include, choanal atresia, pyriform aperture stenosis, and rarely tumors such as glioma, encephalocele, teratoma, or dermoid. More common upper airway congenital anomalies include laryngomalacia, vocal cord paralysis, and subglottic stenosis. Laryngolmalacia is the most common congenital laryngeal anomaly. Inspiratory stridor often does not present until two weeks after birth and resolves by 18 months of age. Most cases are managed with watchful waiting. Severe cases require a surgical intervention. Bilateral vocal cord paralysis is usually idiopathic. In certain cases, paralysis may occur secondary to central nervous system abnormality including Arnold-Chiari malformation, cerebral palsy, hydrocephalus, myelomeningocele, spina bifida, or hypoxia. Severe cases may necessitate endotracheal intubation and tracheostomy. Congenital subglottic stenosis is the third most common laryngeal anomaly. It is defined as a diameter of less than 4mm of the cricoid region in a full-term infant, and less than 3mm in a premature infant. This condition is the most common laryngeal anomaly that requires tracheotomy in newborns. Laryngotracheoplasty may be required to achieve decanulation. Knowledge of the upper airway embryological development and congenital anomalies is off prime importance in assessing the newborn with respiratory distress. In most cases flexible endoscopy establishes the diagnosis. Management is tailored to each condition and its degree of severity. PMID:16798587

Daniel, Samuel J

2006-01-01

157

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

PubMed Central

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

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

1997-01-01

158

A gene map of congenital malformations.  

PubMed Central

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

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

1994-01-01

159

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

MedlinePLUS

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

160

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

Microsoft Academic Search

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

Y. Tatekawa; T. Muraji; C. Tsugawa

2005-01-01

161

Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management  

Microsoft Academic Search

Smith–Lemli–Opitz syndrome (SLOS) is a malformation syndrome due to a deficiency of 7-dehydrocholesterol reductase (DHCR7). DHCR7 primarily catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. In SLOS, this results in decreased cholesterol and increased 7DHC levels, both during embryonic development and after birth. The malformations found in SLOS may result from decreased cholesterol, increased 7DHC or a combination of these

Forbes D Porter

2008-01-01

162

Malformation and plastic surgery in childhood  

PubMed Central

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

Siegert, Ralf; Magritz, Ralph

2014-01-01

163

Congenital Diaphragmatic Hernia and Associated Cardiovascular Malformations: Type, Frequency, and Impact on Management  

PubMed Central

The co-occurrence of congenital diaphragmatic hernia (CDH) and cardiovascular malformations (CVMs) has important clinical, genetic, and developmental implications. Previous examinations of this topic often included patients with genetic syndromes. To correct this potential bias, we undertook an extensive review of the literature and obtained new data. The frequency of CVMs associated with isolated CDH was 11–15%. A careful analysis of CVMs indicates that atrial and ventricular septal defects, conotruncal defects, and left ventricular outflow tract obstructive defects were the most common type of CVMs, but proportional to the frequency of occurrence in the general population. The combination of CVM and CDH results in a poorer prognosis than would be expected with either malformation alone. However, the impact on survival from patients with a genetic syndrome has not been consistently evaluated. We encourage researchers to re-analyze existing series and recommend that future studies distinguish isolated CDH from that which is associated with other malformations, especially as part of genetic syndromes. Therapies should be tailored to maximize cardiac output and systemic oxygen delivery rather than systemic oxygen saturation alone. Although there is speculation about the frequency with which isolated left ventricular “hypoplasia” occurs in patients with CDH, we suggest it results from compression of a pre-load deficient left ventricle by the hypertensive right ventricle, and unlike true hypoplasia, is reversible. Irrespective of the type of severity of CVMs in patients with CDH, the degree of pulmonary hypoplasia and pulmonary vascular disease predicts outcome. PMID:17436301

Lin, Angela E.; Pober, Barbara R.; Adatia, Ian

2010-01-01

164

[Ocular alterations in a pediatric patient with Dandy-Walker malformations: case report].  

PubMed

We describe a rare case of Dandy-Walker syndrome malformation and its ocular alterations. A female child, aged 1 year and 9 month, with central nervous system alterations (Dandy-Walker syndrome), associated with low visual acuity, megalocornea (13 mm diameter in right eye and 13.5 mm in the left), fundoscopy with 0.7 optic papilla excavation in both eyes (BE) and temporal paleness in BE, intraocular pressure of 16 mmHg in the right eye and 14 mmHg in the left and anteroposterior diameter of 20.55 mm in both eyes. PMID:16491242

Ewald, Oscar; Scremin, Fernanda; Busch, Fábio; Von Hertwig, Roberto

2006-01-01

165

Pulmonary arteriovenous malformations: therapeutic options.  

PubMed

We have treated 21 patients (13 female, 8 male) with pulmonary arteriovenous malformations (PAVMs). Mean age at diagnosis was 37.5 years (range, 15 to 72 years). Presenting symptoms included dyspnea on exertion (67%), hereditary hemorrhagic telangiectasia (57%), and major neurologic events (33%). In our early experience, 8 patients had no specific treatment; their case histories illustrate the major neurologic complications of untreated PAVMs. Nine patients (8 primarily, 1 after recurrence) underwent conservative surgical excision; 4 had lobectomy, and 5 had segmentectomy or subsegmental excision. One patient underwent staged bilateral thoracotomies for multiple bilateral lesions. The arterial oxygen tension was found to increase after excision of large or solitary PAVMs. All surgically treated patients were relieved of dyspnea, and none had postoperative recurrence of PAVMs or neurologic complications related to PAVMs. Five patients underwent balloon occlusion of PAVMs. Two patients chose to have solitary PAVMs occluded rather than undergo thoracotomy. One underwent surgical excision 5 years later, and the other required repeat balloon embolization 4 years later when recanalization of the PAVMs was documented. Three patients with numerous PAVMs received palliation with multiple balloon embolizations. The high incidence of associated major neurologic complications mandates aggressive treatment of PAVMs whenever feasible. Conservative surgical resection remains the treatment of choice. Balloon embolization offers an alternative therapy for patients who are poor surgical risks or those whose lesions are too numerous to resect. PMID:8347006

Puskas, J D; Allen, M S; Moncure, A C; Wain, J C; Hilgenberg, A D; Wright, C; Grillo, H C; Mathisen, D J

1993-08-01

166

Chiari Malformation in otology practice.  

PubMed

The purpose of the study was to evaluate prevalence, characteristic symptoms, and management of Chiari Malformation 1 (CM1). A retrospective chat review was made in Otology Tertiary Department including 439 otologic patients referred to the Helsinki University Hospital Radiology Department for head magnetic resonance imaging (MRI) during 2005 and also among 42 patients seen at the Department of Neurosurgery in years 2001-2005 with a diagnosis of CM1. We made a structured analysis of medical records focusing on patient history, neurologic symptoms, and radiologic findings. For surgical patients, information was collected on symptoms, treatment, and operative outcome. The prevalence of CM1 in the 439 otologic patients was 0.9%. Most CM1 patients sent to the Neurosurgery Department were operated on. Two months postoperatively, 26 patients (68%) had benefited from the surgery, but 12 patients (32%) experienced no change to symptoms. The possibility of CM1 should be borne in mind in patients presenting with atypical benign positional vertigo or recurrent facial paresis. PMID:19409739

Levo, Hilla; Tapani, Erna; Karppinen, Atte; Kentala, Erna

2010-02-01

167

Vascular origin of Poland syndrome?  

Microsoft Academic Search

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

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

1978-01-01

168

Fetal alcohol syndrome: Behavioral teratology  

Microsoft Academic Search

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

Ernest L. Abel

1980-01-01

169

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

170

Delayed presentation of anorectal malformations  

PubMed Central

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

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

2008-01-01

171

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

172

Currarino syndrome and spinal dysraphism.  

PubMed

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

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

2014-06-01

173

Congenital Cystic Adenomatoid Malformation: Is There a Need for Pregnancy Termination?  

PubMed Central

Aim. Congenital cystic adenomatoid lung malformation is a rare unilateral dysplasia of the lung. Three pathologic types are described in the literature: type I with cysts >2?cm, type II with cysts <1?cm, and type III with microcysts. The aim of this paper is to present a case of a fetus with congenital cystic adenomatoid lung malformation and discuss the necessity for pregnancy termination according to its prognosis and future mortality. Case. A 36-year-old pregnant woman (para: 1, gravida: 1) presented in our department for anatomy ultrasound screening at 20 + 1 weeks of gestation. The ultrasound detected a cystic adenomatoid right lung malformation measuring 1.45 × 1.67?cm which caused mediastinal shift of the heart and the lung to the left side. Other findings were cysts of the choroid plexus and echogenic intracardiac foci. The parents after genetic counseling decided pregnancy termination. The pregnant received cabergoline for ablactation. Conclusion. Congenital cystic adenomatoid lung malformation has different prognosis according to the type (69% in type I, 0% in types II and III). Fetal hydrops, cardiac and skeletal anomalies, Potter's syndrome, and gastrointestinal atresia are common cofindings. Genetic counseling is necessary, and pregnancy termination is proposed to the cases with poor prognosis. PMID:22474453

Iavazzo, C.; Eleftheriades, M.; Bacanu, A. M.; Hassiakos, D.; Botsis, D.

2012-01-01

174

Treacher Collins Syndrome  

PubMed Central

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

Chang, Christopher C.; Steinbacher, Derek M.

2012-01-01

175

Genome-wide copy number variation study in anorectal malformations.  

PubMed

Anorectal malformations (ARMs, congenital obstruction of the anal opening) are among the most common birth defects requiring surgical treatment (2-5/10 000 live-births) and carry significant chronic morbidity. ARMs present either as isolated or as part of the phenotypic spectrum of some chromosomal abnormalities or monogenic syndromes. The etiology is unknown. To assess the genetic contribution to ARMs, we investigated single-nucleotide polymorphisms and copy number variations (CNVs) at genome-wide scale. A total of 363 Han Chinese sporadic ARM patients and 4006 Han Chinese controls were included. Overall, we detected a 1.3-fold significant excess of rare CNVs in patients. Stratification of patients by presence/absence of other congenital anomalies showed that while syndromic ARM patients carried significantly longer rare duplications than controls (P = 0.049), non-syndromic patients were enriched with both rare deletions and duplications when compared with controls (P = 0.00031). Twelve chromosomal aberrations and 114 rare CNVs were observed in patients but not in 868 controls nor 11 943 healthy individuals from the Database of Genomic Variants. Importantly, these aberrations were observed in isolated ARM patients. Gene-based analysis revealed 79 genes interfered by CNVs in patients only. In particular, we identified a de novo DKK4 duplication. DKK4 is a member of the WNT signaling pathway which is involved in the development of the anorectal region. In mice, Wnt disruption results in ARMs. Our data suggest a role for rare CNVs not only in syndromic but also in isolated ARM patients and provide a list of plausible candidate genes for the disorder. PMID:23108157

Wong, Emily H M; Cui, Long; Ng, Chun-Laam; Tang, Clara S M; Liu, Xue-Lai; So, Man-Ting; Yip, Benjamin Hon-Kei; Cheng, Guo; Zhang, Ruizhong; Tang, Wai-Kiu; Yang, Wanling; Lau, Yu-Lung; Baum, Larry; Kwan, Patrick; Sun, Liang-Dan; Zuo, Xian-Bo; Ren, Yun-Qing; Yin, Xian-Yong; Miao, Xiao-Ping; Liu, Jianjun; Lui, Vincent Chi-Hang; Ngan, Elly Sau-Wai; Yuan, Zhen-Wei; Zhang, Shi-Wei; Xia, Jinglong; Wang, Hualong; Sun, Xiao-bing; Wang, Ruoyi; Chang, Tao; Chan, Ivy Hau-Yee; Chung, Patrick Ho-Yu; Zhang, Xue-Jun; Wong, Kenneth Kak-Yuen; Cherny, Stacey S; Sham, Pak-Chung; Tam, Paul Kwong-Hang; Garcia-Barcelo, Maria-Mercè

2013-02-01

176

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

177

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

178

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

179

[Hyperkeratotic vascular malformations. Presentation of three cases].  

PubMed

Hyperkeratotic vascular malformations (verrucous hemangiomas) are infrequent vascular lesions present from birth. Initially, they are reminiscent of port wine stains or childhood hemangioma, but over time they gradually take on their typical warty and hyperkeratotic appearance. These changes are probably due to trauma, scratching and bleeding episodes. Because the lesion is deep and goes beyond the clinical lesion, treatment is difficult and involves many recurrences. We present three cases of this vascular malformation, in two males aged 45 and 62 and a 30-year-old female. All three had the lesion from birth, and presented with frequent bleeding episodes. PMID:16476321

Piqué, Enric; Pérez-Cejudo, Juan A; Palacios, Santiago; Martínez, María Sol

2005-12-01

180

Sequelae of dental trauma: the malformed tooth  

PubMed Central

Here, we report a case of 10-year-old boy who came with a complaint of missing upper front teeth and was also concerned about his aesthetics. Significant history of trauma was present in his toddler period. Diagnosis of malformed upper right central incisor (11) by radiological investigations was carried out. Surgery was performed and there was removal of the impacted malformed upper right central incisor (11). Healing was uneventful. The patient is under follow-up for aesthetic rehabilitation to be carried out. PMID:23362061

Chaudhary, Seema; Chaitra, T R; Vijayran, Manisha; Kulkarni, Adwait Uday

2013-01-01

181

Chronic rectal bleeding in Proteus syndrome.  

PubMed

Proteus Syndrome is a rare congenital hamartomatous disorder that typically manifests itself in overgrowth, vascular malformation and disregulation of fatty tissue. The tissues affected are commonly the limbs but can be of any tissue. Vascular anomalies are common and appear at random sites on the body. Diagnosis is often difficult leading to wrong treatment. We describe a case of a 17-year-old girl with Proteus syndrome presented with symptomatic anaemia secondary to chronic rectal bleeding. Computed Tomography Angiogram of Abdomen and Pelvis confirmed the presence of rectal vascular malformations. PMID:21901955

Siow, S L; Sim, N K

2010-12-01

182

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

183

Iomazenil hyperfixation in single photon emission computed tomography study of malformations of cortical development during infancy.  

PubMed

We present 2 cases of malformations of cortical development and early onset epilepsy. The first case is of a patient with left hemimegalencephaly who developed focal epilepsy at the age of 2 days and cluster spasms at 1.5 months. After left functional hemispherectomy, seizures originated from the contralateral hemisphere, which had shown normal signals in the preoperative magnetic resonance imaging study. The second case is of a patient with lissencephaly, caused by a missense mutation in the doublecortin gene, who developed West syndrome at the age of 5 months. In both the cases, (123)I-iomazenil single photon emission computed tomography performed during infancy showed significant hyperfixation in the dysplastic lesions. This finding indicates the immaturity of the affected neurons and a gamma-aminobutyric acidergic involvement in epileptogenesis associated with malformations of cortical development during infancy. PMID:21501962

Higurashi, Norimichi; Hamano, Shin-ichiro; Oritsu, Tomotaka; Minamitani, Motoyuki; Sasaki, Masayuki; Ida, Hiroyuki

2011-07-01

184

Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum.  

PubMed

Congenital pulmonary airway malformations (CPAM) are a family of hamartomatous disorders due to the uncontrolled overgrowth of the terminal bronchioles. Congenital pulmonary airway malformations can co-exist with cardiovascular and/or urogenital malformations, but their association with thoracopulmonary malformations is extremely rare. We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis. PMID:22414029

Pizzi, Marco; Fassan, Matteo; Ludwig, Kathrin; Cassina, Matteo; Gervasi, Maria Teresa; Salmaso, Roberto

2012-06-01

185

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

186

Angiographically occult arteriovenous malformations of the brain  

PubMed Central

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

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

1978-01-01

187

Segmental costovertebral malformation associated with lipomyelomeningocoele.  

PubMed

We describe 2 patients with segmental costovertebral malformation, a form of spondylocostal dysostosis, associated with tethering of the conus to a lipomyelomeningocoele. Such an association is rare. In both these patients the defects occurred sporadically. The relevant literature is reviewed. PMID:15936198

Nadkarni, Trimurti D; Menon, Ram Kumar; Desai, Ketan I; Goel, Atul

2005-06-01

188

Segmental costovertebral malformations: association with neural tube defects. Report of 3 cases and review of the literature.  

PubMed

Patients with spondylocostal dysostosis (SCD) have vertebral abnormalities and numerical or structural rib anomalies that produce thoracic asymmetry. Rib anomalies and dysmorphism are the typical features that differentiate this syndrome from spondylothoracic dysostosis (STD). Jarcho-Levin syndrome is a severe form with involvement of the whole vertebral column. Other associated findings such as congenital heart defects, abdominal wall malformations, genitourinary malformations and upper limb anomalies may be found; in addition, neural tube defects (NTDs) have been associated with this malformation. SCD is transmitted both in a recessive form and as a dominant defect. We report on 3 children with SCD; 2 also had NTDs. All of them were studied with X-rays and spinal magnetic resonance (MR), and over the same period they underwent multidisciplinary clinical functional evaluation. One of our cases with NTD also presented polythelia, which has not previously been described in patients with SCD. The common association of segmental costovertebral malformations with NTDs could be related to an early gastrulation genomic defect, or one after gastrulation, when there are two independent somitic columns. The latter sometimes progresses and then involves primary and secondary neurulation. Also, the association of SCD with NTDs could be related to the interaction of different genes, resulting in this complex phenotype. Therefore, additional genetical and embryological studies are necessary to provide evidence of an etiological link between SCD and NTD. PMID:10461076

Duru, S; Ceylan, S; Güvenç, B H

1999-05-01

189

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63  

Microsoft Academic Search

The transcriptional co-activator p63 is of crucial importance for correct development of the limbs, ectodermal appendages (skin, nails, teeth, hair, glands), lip and palate. Mutations in the p63 gene are found in a number of human syndromes, including ectrodactyly-ectodermal dysplasia-cleft lip\\/palate (EEC) syndrome, limb- mammary syndrome (LMS), Hay-Wells syndrome and in non-syndromic split-hand\\/split-foot malformation (SHFM). Each syndrome has a specific

Pascal H. G. Duijf; R. J. Vanmolkot; Peter Propping; Waltraut Friedl; E lmar Krieger; Frank McKeon; Volker Dötsch; Han G. Brunner; Hans van Bokhoven

2002-01-01

190

Short rib-polydactyly syndrome type I, Saldino-Noonan.  

PubMed

A case of the Saldino-Noonan type of short rib-polydactyly syndrome is reported. Although multiple internal malformations have been described in this syndrome, no significant visceral abnormalities were detected in this except for the hypoplastic lungs. A similar case was reported by Spranger et al. in 1974. PMID:7353571

Kaibara, N; Eguchi, M; Shibata, K; Takagishi, K

1980-01-01

191

Genetics Home Reference: 2q37 deletion syndrome  

MedlinePLUS

... 2q37 deletion syndrome have a rare form of kidney cancer called Wilms tumor. Some affected individuals have malformations of the brain, ... disability ; eczema ; gastrointestinal ; genitalia ; hereditary ; hypotonia ; inherit ; ... syndrome ; translocation ; tumor ; Wilms tumor You may find definitions for these ...

192

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

193

Wildervanck's syndrome with severe inner ear dysplasia and agenesis of the right internal carotid artery.  

PubMed

We describe a case with Wildervanck syndrome (cervico-oculo-acoustic syndrome) comprising Klippel-Feil anomaly, retractio bulbi (Duane syndrome), and congenital sensorineural deafness. An 18-month male baby had a severe inner ear dysplasia, and MRI also showed a complex vascular carotid malformation associated. PMID:24576452

Hernando, Mónica; Urbasos, María; Amarillo, Viviana Elizabeth; Herrera, María Teresa; García-Peces, Victoria; Plaza, Guillermo

2014-04-01

194

Twenty-year trends in prevalence and survival of Down syndrome  

Microsoft Academic Search

The aims of this study were (1) to determine trends in total prevalence and live birth prevalence of Down syndrome, (2) to analyse trends in factors likely to influence this prevalence and (3) to determine 1-year survival in Down syndrome. A retrospective review was made of prospectively collected data on all cases of Down syndrome within a malformation registry born

Claire Irving; Anna Basu; Sam Richmond; John Burn; Christopher Wren

2008-01-01

195

Blue rubber bleb nevus syndrome and pulmonary hypertension: an unusual association  

Microsoft Academic Search

IntroductionBlue rubber bleb nevus syndrome (BRBNS) is a rare congenital systemic angiodysplasia with multiple vascular malformations in the skin, gastrointestinal tract and, less often, in other internal organs and the brain.

Carla Giordano; Alessandro Battagliese; Cira R. T. di Gioia; Domenico Campagna; Flora Benedetti; Claudia Travaglini; Pietro Gallo; Giulia d' Amati

2004-01-01

196

Bilateral Coronary Artery Dilatation and Supravalvular Pulmonary Stenosis in a Child with Noonan Syndrome  

Microsoft Academic Search

Noonan syndrome is the second most frequent congenital malformation syndrome, after Down syndrome, associated with cardiovascular\\u000a abnormalities. The most prevalent cardiovascular abnormalities in Noonan syndrome are pulmonary stenosis and hypertrophic\\u000a cardiomyopathy. We report the case of a 12-year-old girl with Noonan syndrome who had multiple cardiovascular abnormalities,\\u000a including extensive bilateral coronary artery dilatation, valvular and supravalvular pulmonary stenosis, atrial septal

T. Uçar; S. Atalay; M. Tekin; E. Tutar

2005-01-01

197

PHACES syndrome in association with airway hemangioma: First report from Saudi Arabia and literature review  

PubMed Central

“PHACES” is a neurocutaneous syndrome that refers to the following associations: Posterior fossa malformations, Hemangiomas, Arterial malformations, Coarctation of the aorta/Cardiac defects, Eye abnormalities, and Sternal defects. Herein, we report the association of PHACES syndrome with airway hemangioma, a serious association that should not be overlooked. The findings of such an association presented here are the first to be reported from Saudi Arabia. PMID:22347351

Alsuwaidan, Sami N.

2012-01-01

198

Arteriovenous malformation detected by small bowel endoscopy.  

PubMed

Gastrointestinal bleeding that originates in the small intestine is often difficult to diagnose. When successful diagnosis reveals a lesion that can be localized preoperatively, the laparoscopic approach is an appropriate and beneficial treatment modality for small bowel resection. A 69-year-old man presented with a 6-month history of gastrointestinal bleeding and symptomatic transfusion-dependent anemia. Upper and lower endoscopy were normal. Double-balloon endoscopy established the source of the bleeding as a 0.5-cm polypoid mass appearing as a submucosal tumor with redness and pulsation in the lower ileum, suggesting a vascular lesion. Laparoscopic small bowel resection was successful in removing the mass in the ileum. Histological evaluation of the mass revealed an arteriovenous malformation. Preoperative small bowel endoscopy can be useful for diagnosing the cause and localization of arteriovenous malformation in the small intestine. PMID:25473391

Fujii, Takaaki; Morita, Hiroki; Sutoh, Toshinaga; Takada, Takahiro; Tsutsumi, Soichi; Kuwano, Hiroyuki

2014-09-01

199

Laser treatment of congenital vascular malformations.  

PubMed

Treatment of vascular malformations is one of the main indications for laser application in dermatology. The argon laser is suitable for coagulation of superficial lesions, the Nd:YAG laser for thicker ones. Vaporization or excision of vascular lesions can be performed by means of the CO2 laser. International standard of argon laser therapy of port wine stains are 60 to 70% good results in adult patients afflicted with red and purple lesions. In contrast argon laser therapy of pink lesions and of children is less successful. But more recently the flashlamp pumped dye laser has improved treatment results in children, since this laser acts much more vessel specific than the argon laser. Other congenital vascular lesions that respond to laser therapy are capillary hemangiomas, cavernous hemangiomas, and lymphangiomas. Future development may expand application of laser in the treatment of vascular malformations. PMID:2090705

Landthaler, M; Hohenleutner, U

1990-01-01

200

Transcatheter closure of a pulmonary arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia.  

PubMed

Pulmonary arteriovenous malformations (PAVM) are rare pulmonary vascular anomalies. Over 50 % of the cases are associated with hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu Syndrome. Untreated PAVMs progressively enlarge and can cause significant right-to-left shunting. Surgical- and catheter-based approaches have been used in the management of PAVM. We report a case of a 74-year-old man who presented with dyspnea and hypoxia and was found to have a large right-sided PAVM. He underwent percutaneous closure of the PAVM with an Amplatzer device with significant improvement of his symptoms. PMID:24928099

Parker, Christopher; Rousan, Talla A; Abu-Fadel, Mazen

2014-06-14

201

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

202

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

203

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.

204

Congenital lung malformations: an ongoing controversy  

PubMed Central

Introduction Congenital lung malformations are rare lesions that are most commonly diagnosed antenatally. Management of such lesions, particularly those that are asymptomatic, remains controversial. We undertook a survey to ascertain current practice of surgeons in the UK and Ireland. Methods All consultant members of the British Association of Paediatric Surgeons were asked to complete a survey on congenital lung malformations with respect to antenatal management, symptomatic and asymptomatic lesions, and operative techniques. Results Responses were received from 20 paediatric surgical centres and highlighted the ongoing variability in management of such lesions, particularly those that are asymptomatic. Twenty per cent of surgeons never resect an asymptomatic lesion and twenty-four per cent always do. The remainder intervene selectively, with size being the most commonly stated indication. Most resections are undertaken via thoracotomy although 35% of surgeons use thoracoscopy for some procedures. Conclusions National data based on congenital anomaly registers are needed to determine the natural history of these malformations and to guide future management. PMID:23484999

Burge, DM; Marven, SS

2013-01-01

205

Congenital Intracranial Vascular Malformations in Children*  

PubMed Central

The clinical, laboratory, and other features of 16 children with congenital intracranial vascular malformations seen over a period of 15 years are presented. 13 patients had an arteriovenous (AV) malformation, 2 patients an aneurysm of the vein of Galen, and 1 a congenital internal carotid/internal jugular fistula. Based on onset of symptoms the patients ranged in age from 3 months to 16 years with an average age of 7½ years; however, 5 patients had their first clinical manifestation before 6 years of age. Unfortunately, definitive diagnosis could not be made until an average of 15½ years. The most important clinical manifestations were focal or generalized seizures and spontaneous intracranial bleeding, each occurring in 6 patients. Of 2 patients who presented with hydrocephalus, 1 had had an unexplained episode of cardiac failure during infancy. Inequality in the size of the legs, and periodic headaches were the initial manifestations in 2 other patients. Analysis of this series of patients with intracranial AV malformations suggests the following diagnostic recommendations: careful auscultation of the skull for bruits should be performed in all infants and children with cardiac failure of unknown aetiology; patients with focal seizures refractory to anticonvulsant therapy should be re-examined at frequent intervals to detect focal neurological deficit which otherwise may go unnoticed; and, finally, patients with a seizure disorder who develop focal signs of neurological deficit deserve a complete diagnostic investigation, including contrast studies. ImagesFIG. 1FIG. 2FIG. 3FIG. 4 PMID:5314563

Lagos, Jorge C.; Riley, Harris D.

1971-01-01

206

Longevity and Patau syndrome: what determines survival?  

PubMed

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

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

2012-01-01

207

Risk of Vascular Anomalies With Down Syndrome  

Microsoft Academic Search

ABSTRACT OBJECTIVE. Patients with,Down,syndrome,have,a reduced,risk of developing,solid tumors. This protective effect has been attributed to increased gene dosage from an additional copy of chromosome 21, and elevated expression of endostatin has been implicated. We hypothesized that vascular anomalies, including infantile hemangi- oma, an angiogenesis-dependent vascular tumor, and vascular malformations might be similarly inhibited in patients with Down,syndrome. PATIENTS AND METHODS.

John B. Mulliken; Arin K. Greene; Sendia Kim; Gary F. Rogers; Steven J. Fishman; Bjorn R. Olsen

2010-01-01

208

Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.  

PubMed

Hindbrain malformations with predominant cerebellar involvement have many causes including chromosomal disorders, specific genetic syndromes, and prenatal disruptions. The combination of a hindbrain malformation and myoclonic epilepsy is rare. Using exome sequencing in a consanguineous family, we identified a homozygous genomic deletion of 1770 bp within the INPP4A gene in a patient with myoclonic epilepsy, microcephaly, and atrophy of the inferior vermis and cerebellum. INPP4A participates in the excitatory glutamate signaling pathway and is essential for the degradation of phosphatidylinositol (3,4)-bisphosphate. Glutamatergic signaling is important for hindbrain development and is implicated in the pathogenesis of epilepsy, as well as excitotoxic cell death. Indeed, excessive glutamatergic stimulation was previously reported in INPP4A knockout mice. Our data adds a new etiology to the spectrum of hindbrain malformations in human, and when presented with myoclonic epilepsy may lead to the clinical suspicion of INPP4A defect. The present report further underscores the importance of phosphoinositides for the development of the inferior cerebellum and vermis. PMID:25338135

Sheffer, Ruth; Bennett-Back, Odeya; Yaacov, Barak; Edvardson, Simon; Gomori, Moshe; Werner, Marion; Fahham, Duha; Anteby, Irene; Frumkin, Ayala; Meiner, Vardiella; Elpeleg, Orly

2015-01-01

209

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

PubMed

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

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

1994-01-01

210

Cytoarchitecture and Transcriptional Profiles of Neocortical Malformations in Inbred Mice  

PubMed Central

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

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

2008-01-01

211

Upper limb malformations in chromosome 22q11 deletions  

SciTech Connect

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

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

1996-03-29

212

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

PubMed Central

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

Eivazi, Behfar; Werner, Jochen A.

2014-01-01

213

Hemangiomas and Vascular Malformations: Current Theory and Management  

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 tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies. PMID:22611412

Richter, Gresham T.; Friedman, Adva B.

2012-01-01

214

Temporal variability in birth prevalence of cardiovascular malformations  

Microsoft Academic Search

OBJECTIVETo investigate changes over time in the prevalence at live birth of cardiovascular malformations and to compare “anatomical” and “physiological” diagnostic hierarchies within a population.DESIGNRetrospective and prospective ascertainment of all congenital cardiovascular malformations diagnosed in infancy.SETTINGThe resident population of one health region.PATIENTSAll infants live born from 1985 to 1997 with cardiovascular malformations confirmed by echocardiography, cardiac catheterisation, surgery or autopsy.MAIN

C Wren; S Richmond; L Donaldson

2000-01-01

215

A Cluster of Hypoplastic Left Heart Malformation in Baltimore, Maryland  

Microsoft Academic Search

Congenital cardiovascular malformations (CCVMs) of the left side of the heart show familial recurrence of various forms of\\u000a obstructive malformations, including hypoplastic left heart (HLH), interrupted aortic arch, coarctation of the aorta, and\\u000a aortic stenosis. In a previous population-based study in the Baltimore–Washington region, these malformations were associated\\u000a with parental reports of occupational or leisure solvent exposure, overt diabetes, and

K. S. Kuehl; C. A. Loffredo

2006-01-01

216

Scalp-Ear-Nipple Syndrome: A Case Report  

PubMed Central

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

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

2014-01-01

217

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

SciTech Connect

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

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

1988-02-01

218

EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report.  

PubMed

An 80-year-old man underwent right upper lobectomy for the resection of multiple cysts accompanied by a nodule. The pathological diagnosis was adenocarcinoma with surrounding atypical epithelial cell proliferation in a Type 1 congenital cystic adenomatoid malformation/congenital pulmonary airway malformation. There was epidermal growth factor receptor mutation in the adenocarcinoma and surrounding atypical epithelial cells that had proliferated. Malignant transformation of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation may be related to the epidermal growth factor receptor pathway in this case, with atypical epithelial cell proliferation as a precursor. We emphasize the importance of complete resection of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation and the possibility of treatment with epidermal growth factor receptor tyrosine kinase inhibitors in epidermal growth factor receptor-mutated cases. PMID:24482415

Hasegawa, Mizue; Sakai, Fumikazu; Arimura, Ken; Katsura, Hideki; Koh, Eitetsu; Sekine, Yasuo; Hiroshima, Kenzo

2014-03-01

219

Cleft Lip and Palate Associated with Other Malformations in a Neotropical Primate (Saimiri ustus)  

PubMed Central

Cleft lip (with or without cleft palate) has been documented in several species of nonhuman primates, which in general are susceptible at similar doses and stages of gestation to the same teratogens as humans. Cleft lip can be unilateral or bilateral, isolated, syndromic, familial, or genetic. Here we report the first case of syndromic cleft lip and palate in a male bare-eared squirrel monkey (Saimiri ustus). Associated with the orofacial clefts, the monkey manifested absence of bones, malformation of vertebrae L3, only 4 fingers in each hand, and shortening of tendons leading to inflection of the hands and fingers. Previous reports describing cleft lip and palate in other squirrel monkeys (Saimiri sciureus) in other breeding units have suggested consanguineous mating as a possible cause. Although the etiology in the case we present is unknown, we discuss factors associated with orofacial clefts in humans and various nonhuman primates. PMID:20587169

Goldschmidt, Beatriz; Lopes, Claudia AA; Moura, Marina; Nogueira, Denise M; Gonçalves, Miguel AB; Fasano, Daniele M; Andrade, Marcia CR; Nascimento, Laine WF; Marinho, Antonio M

2010-01-01

220

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

221

Syndrome in question.  

PubMed

Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. In this article we report a case of Rendu-Osler-Weber in a 64 year-old man, with history of mucocutaneous telangiectasia since the third decade of life, recurrent epistaxis, positive family history and vascular ectasia in the gastrointestinal tract. PMID:25054766

Meireles, Sheila Itamara Ferreira do Couto; Andrade, Sônia Maria Fonseca de; Gomes, Maria Fernanda; Castro, Fernanda Aalmeida Nunes; Tebcherani, Antonio José

2014-01-01

222

Syndrome in Question*  

PubMed Central

Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. In this article we report a case of Rendu-Osler-Weber in a 64 year-old man, with history of mucocutaneous telangiectasia since the third decade of life, recurrent epistaxis, positive family history and vascular ectasia in the gastrointestinal tract. PMID:25054766

Meireles, Sheila Itamara Ferreira do Couto; de Andrade, Sônia Maria Fonseca; Gomes, Maria Fernanda; Castro, Fernanda Almeida Nunes; Tebcherani, Antonio José

2014-01-01

223

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

PubMed

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

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

2015-01-01

224

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

PubMed Central

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

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

2015-01-01

225

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

226

Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.  

PubMed

Rib anomalies may occur in isolation, as well as in association with abnormalities of vertebral segmentation and multi-system malformations. Specific entities include the VACTERL and MURCS associations, spondylocostal dysostosis, and spondylothoracic dysostosis. The relative significance of rib anomalies in other lesser known syndromes and associations remains unclear. To document the diagnoses and related defects in patients with rib anomalies as part of broader pattern of anomalies, we retrospectively identified 47 cases from a hospital population, and evaluated specific costal findings and associated birth defects. In our study, fusion was the most common pattern of rib anomaly (72%), followed by bifid (28%) and hypoplastic ribs (26%). Unrecognized patterns of multiple congenital anomalies (MCA) and VACTERL association were the commonest specific diagnoses with a frequency of 30 and 28%, respectively. An associated vertebral defect was found in 72% of the patients. Of those with no vertebral anomaly, the combinations of "rib and cardiac defects alone" and "rib and renal defects alone" were seen in one-third of the patients (4/13). Both the occurrence and type of rib anomaly were helpful in defining certain syndromes and enhanced the likelihood of identifying related malformations. PMID:12949975

Wattanasirichaigoon, Duangrurdee; Prasad, Chitra; Schneider, Gretchen; Evans, Jane A; Korf, Bruce R

2003-09-15

227

Intraventricular cavernous malformation radiologically mimicking meningioma.  

PubMed

We report a case of trigonal cavernous malformation (CM) radiologically mimicking meningioma. The computed tomographic (CT) head angiography and magnetic resonance imaging (MRI) showed a partially calcified lesion with slight contrast enhancement located in the area of the left atrium of lateral ventricle. The lesion was completely removed using microsurgery with a parieto-occipital transcortical approach. The resected mass was histologically confirmed as CM. CM should be considered as differential diagnosis in case of the atrial mass lesion due to lack of hemosiderin ring characteristically seen other seated CM. PMID:19119474

Jin, Sung-Chul; Ahn, Jae-Sung; Kwun, Byung-Duk; Kwon, Do Hoon

2008-11-01

228

Stereotactic radiosurgery of intracranial cavernous malformations.  

PubMed

Despite increasing worldwide experience, the role of stereotactic radiosurgery (SRS) in the management of cerebral cavernous malformations (CMs) remains controversial. Microsurgical excision of easily accessible CMs is typically safe; therefore, removal remains the gold standard for most of the symptomatic hemispheric lesions. However, there is now sufficient evidence supporting the use of SRS for the difficult cases. Waiting for the cumulative morbidity of the natural history to justify intervention does not serve the patient's interest, therefore, we argue for early radiosurgical intervention. Carefully designed randomized controlled trials might resolve controversies concerning the role of SRS in treating cerebral CMs. PMID:24093575

Nagy, Gábor; Kemeny, Andras A

2013-10-01

229

Congenital lung malformations: informing best practice.  

PubMed

The management of congenital lung malformations is controversial both in the prenatal and postnatal periods. This article attempts to inform best practice by reviewing the level of evidence with regard to prenatal diagnosis, prognosis, and management and postnatal management, including imaging, surgical indication, surgical approach, and risk of malignancy. We present a series of clinically relevant statements along those topics and analyze the evidence for each. In the end, we make a plea for an adequate description of the lesions, both before and after birth, which will allow future comparisons between management options and the initiation of prospective registries. PMID:25459011

Baird, Robert; Puligandla, Pramod S; Laberge, Jean-Martin

2014-10-01

230

Brain arteriovenous malformations: from diagnosis to treatment.  

PubMed

Brain arteriovenous malformations (bAVM) are a major cause of morbidity in young people. The main mode of presentation is with a cerebral bleeding or seizures, although nowadays, due to the increased use of MRI, more asymptomatic bAVMs are encountered. The clinical course of asymptomatic bAVMs seems to be mild in comparison to bAVMs that presented with a cerebral hemorrhage. This finding may lead to a paradigm shift regarding treatment of asymptomatic bAVMs. This review discusses the latest findings in bAVM epidemiology and natural history, and compares the optimal imaging modalities and best treatment options. PMID:21464809

Buis, D R; Van Den Berg, R; Lagerwaard, F J; Vandertop, W P

2011-03-01

231

Endovascular approaches to pial arteriovenous malformations.  

PubMed

Endovascular approaches to arteriovenous malformations (AVMs) are often necessary to define and help treat these often complex lesions. Angiography provides important information to help plan surgical or radiosurgical approaches. Modern embolization techniques allow AVMs to be treated with the goals of making surgery safer and easier, eliminating high-risk features in patients with AVMs who are otherwise not candidates for treatment, and even potentially curing the patient of the lesion. Liquid embolic agents have significantly advanced what is possible with endovascular treatment of AVMs. PMID:24994088

Sanborn, Matthew R; Park, Min S; McDougall, Cameron G; Albuquerque, Felipe C

2014-07-01

232

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

233

Role of Embolization for Cerebral Arteriovenous Malformations  

PubMed Central

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

Ellis, Jason A.; Lavine, Sean D.

2014-01-01

234

A Case of Prune Belly Syndrome.  

PubMed

Prune belly syndrome (PBS) is a rare congenital disorder characterized by deficient abdominal wall muscles, urinary tract malformation, and, in males, cryptorchidism. We present a case of PBS in China. The patient was a newborn baby boy who had wrinkled, "prune-like" abdominal skin, bilateral cryptorchidism, and urinary system malformation, complicated with hypoplasia of the lung and branch of the coronary artery-right ventricular fistula. His kidney function was inadequate. The patient subsequently died at age 28 days due to septicemia from a severe urinary tract infection. PMID:23639747

Xu, Wei; Wu, Hui; Wang, Dong-Xuan; Mu, Zhi-Hong

2013-04-29

235

The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis  

Microsoft Academic Search

Thanatophoric dysplasia (TD) is a relatively common, fatal form of chondrodysplastic dwarfism in which the cerebral cortex displays a unique and complex malformation. The malformation is characterized by a combination of abnormalities, which affect the temporal lobe most severely. Salient features include temporal lobe enlargement, deep transverse sulci across the inferomedial temporal surface, and hippocampal dysplasia. TD is caused by

Robert F. Hevner

2005-01-01

236

Long term respiratory outcomes of congenital thoracic malformations.  

PubMed

The advent of universal antenatal ultrasonography in many countries has revealed the full spectrum of congenital thoracic malformations (CTMs) and presented clinicians with a number of practical dilemmas to do with diagnosis and management. We present a review of the most common forms of CTMs, including congenital cystic adenomatoid malformation, bronchopulmonary sequestration, and lobar and segmental emphysema. PMID:22305631

Davenport, Mark; Eber, Ernst

2012-04-01

237

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 and Toads With Radiographic Interpretations Carol U. Meteyer USGS National Wildlife Health Center Madison. Suggested citation: Meteyer, C.U. 2000. Field guide to malformations of frogs and toads with radiographic

Torgersen, Christian

238

Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases  

PubMed Central

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

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

2012-01-01

239

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

240

Stereotactic proton beam therapy for intracranial arteriovenous malformations  

Microsoft Academic Search

Purpose: To investigate hypofractionated stereotactic proton therapy of predominantly large intracranial arteriovenous malformations (AVMs) by analyzing retrospectively the results from a cohort of patients. Methods and Materials: Since 1993, a total of 85 patients with vascular lesions have been treated. Of those, 64 patients fulfilled the criteria of having an arteriovenous malformation and sufficient follow-up. The AVMs were grouped by

Frederik J. A. I.. Vernimmen; Jacobus P. Slabbert; Jennifer A. Wilson; Shaheeda Fredericks; Roger Melvill

2005-01-01

241

Ethanol Sclerotherapy of Superficial Venous Malformation: A New Procedure  

Microsoft Academic Search

Background: Superficial venous malformations (SVM) are the most frequent vascular malformations. Outpatient percutaneous treatment with ethanol injection has rarely been described. Objective: To analyze the results from treating SVM patients with ethanol sclerotherapy. Methods: 81 patients were followed up prospectively over a median period of 18 months. 47 were female and 34 were male with a median age of 21

José Luiz Orlando; Jose Guilherme Mendes Pereira Caldas; Heloisa Galvão do Amaral Campos; Kenji Nishinari; Nelson Wolosker

2010-01-01

242

Endoscopic assisted cochlear implants in ear malformations.  

PubMed

The aim of present study is to describe the use of the endoscopic assisted cochlear implant approach in cases with severely malformed temporal bones and with anomalous anatomy of the inner ear and tympanic cavity. Eight patients with malformed middle and inner ear and bilateral profound hearing loss were operated using an endoscopic assisted cochlear implant procedure at our tertiary university referral center between January and September 2013. Five patients received a cochlear implant using a suprameatal endoscopic assisted approach. A chart review of clinical data and videos from the operations was performed. All procedures were re-analyzed and codified. In all patients, discharge from hospital was on the third day post-surgery. No immediate or late postoperative complications were noted. The current mean follow-up is 6 months, with range between 4 and 12 months. This approach proved to be successful in cochlear implant placement. It guaranteed a very good control on the facial nerve, even in cases with difficult anatomical conditions, mainly thanks to the endoscopic procedure. It also permitted an appropriate anatomical orientation of the abnormal middle ear with a direct safe cochleostomy, when the round window position would have been difficult to treat using a traditional approach. PMID:25085636

Marchioni, Daniele; Soloperto, Davide; Guarnaccia, Maria C; Genovese, Elisabetta; Alicandri-Ciufelli, Matteo; Presutti, Livio

2014-08-01

243

Mid-hindbrain malformations due to drugs taken during pregnancy.  

PubMed

Although genetic defects are the leading cause of central nervous system malformations including in the posterior fossa, specific malformative patterns should alert the clinician to consider rather a teratogenic etiology. We discuss the imaging features of 2 mid-hindbrain malformations consecutive to the intake of isotretinoin (Roaccuatane®; case 1) and misoprostol (Cytotec®; case 2) during pregnancy and review the pertinent literature. We correlate the morphological appearance of the mid-hindbrain malformation, as seen on high-resolution magnetic resonance imaging to possible drug-induced pathogenetical mechanisms. The recognition of characteristic imaging patterns enables diagnosis of and/or confirmation of suspected drug-induced hindbrain malformations. This has important medicolegal implications and also clinical significance to avoid unsuccessful and misleading genetic testing. PMID:23390117

Merlini, Laura; Fluss, Joël; Dhouib, Amira; Vargas, Maria I; Becker, Minerva

2014-04-01

244

The pathological anatomy of surgically reconstructable or prosthetically correctable congenital valvular malformation of the mitral region.  

PubMed

The special pathology of reconstructable or only prosthetically correctable congenital malformations of the mitral valve is described on the basis of the following examples taken from our own operative and autopsy material of the last 5 years: 1. Congenital isolated mitral stenosis in female twins (7 month old infant and 33 month old child). 2. Congenital isolated mitral insufficiency in a 7 1/2 year old boy. 3. Combined mixed mitral valve malformations with a parachute valve-like mitral valve anomaly, combined with hypoplasia of the ascending and descending aortas, in a 6 1/2 year old girl. 4. Congenital mitral insufficiency with a parachute mitral valve, combined with supravalvular aortic stenosis and multiple peripheral stenoses of the pulmonary arteries in a 13 1/4 year old boy. 5. Insufficiency of the mitrally inverted tricuspid valve with so-called corrected transposition of the great vessels in a 6 year old boy and with Ebstein's anomaly in a 2 1/2 year old boy. 6. A second mitral ostium in the aortic mitral leaflet with a partial atrioventricular canal in a 6 3/4 year old girl with Ellis-van Creveld syndrome. 7. Bland-White-Garland syndrome with relative mitral insufficiency in a 5 month old and a 4 month old boy. Despite the recurrence of similar and comparable findings, each of our cases of congenital or early acquired noninfectious mitral valve malformation was formally different. n his was also true for the cases of congenital isolated mitral stenosis in twins. Therefore, surgical correction requires a unique procedure for each case. It is possible to reliably infer the degree of malfunction of the atrioventricular valve in a mitral position from the special pathology only by considering the clinical data. On the other hand, a detailed evaluation of congenital mitral valve malformations is possible only through direct inspection--either by the surgeon or through an autopsy--despite modern cardiodiagnostic methods. Typical secondary findings are also discussed--for instance, endocardial fibrosis of the left atrium and the configuration of the heart. The anatomical prerequisites for surgical reconstruction or replacement of the valve with a prosthesis are mentioned. PMID:808894

Schwarze, E W; Bernhard, A

1975-07-17

245

Mowat-Wilson syndrome  

PubMed Central

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

Garavelli, Livia; Mainardi, Paola Cerruti

2007-01-01

246

Multimodality imaging of pancreatic arteriovenous malformation.  

PubMed

Arteriovenous malformation of the pancreas (PAVM) is a very rare entity, although it may be increasingly diagnosed with the expanding use of cross-sectional imaging of the abdomen. PAVM is characterized by a network of tangled vasculature within and surrounding all or part of the pancreas, resulting in the shunting of the arteries of the pancreas directly into the portal venous system. Here, we present a patient with chronic abdominal pain and pancreatitis found to have PAVM, based on the findings of computed tomography, magnetic resonance imaging, endoscopic retrograde cholangiopancreatography, and angiography. Differential considerations are discussed. Although PAVM is uncommon, it should be considered in the differential of patients with recurrent abdominal pain or gastrointestinal bleeding. PMID:25262988

Hansen, Wendy; Maximin, Suresh; Shriki, Jabi E; Bhargava, Puneet

2015-01-01

247

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

248

Intracranial arteriovenous malformation: contralateral steal phenomena.  

PubMed

Sixty-two patients with radiographically proven intracranial arteriovenous malformations underwent preoperative regional cerebral blood flow measurement with 133Xe single-photon emission computed tomography. Contralateral regions of hypoperfusion were detected in all cases. Steal severity was assessed according to the contralateral steal index [ISteal(c)]. ISteal(c) was greater than 0.7 (severe) in 22 (35%), 0.7-0.8 (intermediate) in 18 (29%), and greater than 0.8 (mild) in 22 (35%). ISteal(c) was more frequently severe or mild in females and more often intermediate in males (p less than 0.05). Hyperemic complications were encountered more frequently in patients with intermediate ISteal(c) (p = 0.086). An unfavorable outcome was associated with less severe contralateral steal (p = 0.12). A detailed clinical, radiographic, and hemodynamic profile may help to preoperatively identify patients at high risk for a poor surgical outcome. PMID:2477740

Batjer, H H; Devous, M D; Seibert, G B; Purdy, P D; Ajmani, A K; Delarosa, M; Bonte, F J

1989-05-01

249

Third ventricular cavernous malformation: an unusual lesion.  

PubMed

Cavernomas constitute 5-10% of all the vascular malformations of the CNS. They commonly present during the 2nd and 5th decades of life. Intraventricular cavernomas constitute rare pathological entity, constituting 2.5-10.8% of cerebral cavernomas. (1) The natural history of intraventricular cavernomas remains undefined to some extent. Those in third ventricle are different in biological nature and need more aggressive therapy. These cavernomas appear to have the ability to grow very rapidly, resulting in significant morbidity. It is not known whether waiting after acute hemorrhage from an intraventricular cavernoma improves our ability to remove the lesion safely or if waiting unnecessarily increases the risk of hydrocephalus, additional bleeding, or further lesion growth. PMID:23952135

Patibandla, Mohana Rao; Thotakura, Amit Kumar; Panigrahi, Manas Kumar

2014-01-01

250

Two major patterns of nongenetic malformations are found at autopsy.  

PubMed

Patterns of malformations seen in autopsies may contribute to the understanding of their pathogenetic mechanisms. Two entities, acardiac twins (ATs) and amniotic band disruption complex (ABDC), have distinct patterns, indicating different mechanisms, namely vascular perfusion deficit and external disruption. With ATs and ABDC as model groups, this study was undertaken to see if other dysmorphic infants with the characteristic defects of these models formed distinct and numerically important groups. A total of 192 autopsies with nongenetic malformations was divided into groups including (1) those with defects found in the ATs but not in the ABDC, (2) those with defects found only in the ABDC, and (3) those with a mixture of exclusive defects from each model group. The cases followed the characteristic defects of ATs or ABDC in 20% (group 1) and 28% (group 2), respectively, forming 2 large and distinct groups; only 4% had mixed malformations (group 3). Group 1 had different characteristics from group 2 as a result of the frequent multiple malformations, often with congenital heart defects (CHDs), internal and inferior malformations. These cases were probably related to a vascular perfusion deficit. Group 2 had a majority of females and single, external, and superior defects, but it lacked CHDs and inferior malformations. These cases were likely due to external disruption. Two large and distinct groups of autopsies with nongenetic malformations were thus identified, and their mechanisms are proposed to be similar to those of the model groups. PMID:21105785

Davies, Belinda R; Giménez-Scherer, Juan Antonio

2011-01-01

251

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

252

Temporary umbilical loop colostomy for anorectal malformations.  

PubMed

Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical anorectoplasty via a non-abdominal approach. PMID:23001137

Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon

2012-11-01

253

Amplatzer vascular plugs in congenital cardiovascular malformations  

PubMed Central

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

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

2013-01-01

254

Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome  

Microsoft Academic Search

An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.

J F Mattei; M G Mattei; J Coignet; F Giraud

1978-01-01

255

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

256

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

257

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome  

Microsoft Academic Search

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized primarily by retinal dystrophy, obesity, polydactyly, renal malformations and learning disabilities. Although five BBS genes have been cloned, the molecular basis of this syndrome remains elusive. Here we show that BBS is probably caused by a defect at the basal body of ciliated cells. We have cloned a new BBS gene,

Stephen J. Ansley; Jose L. Badano; Oliver E. Blacque; Josephine Hill; Bethan E. Hoskins; Carmen C. Leitch; Jun Chul Kim; Alison J. Ross; Erica R. Eichers; Tanya M. Teslovich; Allan K. Mah; Robert C. Johnsen; John C. Cavender; Richard Alan Lewis; Michel R. Leroux; Philip L. Beales; Nicholas Katsanis

2003-01-01

258

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

259

[Intestinal malrotation: genetics features and other congenital malformations in children].  

PubMed

The article is devoted to features of prenatal development of children with intestinal malrotation. Mass, height, head and chest circumferences of children after birth have been studied. In addition all associated malformations, a blood group (ABO system) and the rhesus-factor have been investigated. In comparison to the control group of newborn the disorders of prenatal development have included associated malformations, low anthropometric data after birth, decreasing of pA gene frequency. Notable, children with intestinal malrotation have had high frequency of malformations as in the abdominal and thoracic cavities as outside intestinal innervations: the small pelvis, the facial skeleton, the upper and lower extremity. PMID:22379897

Botvin'ev, O K; Eremeeva, A V; Razumovskaia, I N; Kondrikova, E V

2011-01-01

260

Otosclerosis associated with type B-1 inner ear malformation  

PubMed Central

Summary Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis. PMID:20948592

De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A

2010-01-01

261

A case of lymphatic malformation/lymphangioma of the scrotum  

PubMed Central

Lymphatic malformation/lymphangioma of the scrotum is rare. It is caused by lymphatic abnormalities and the most common sites are the neck and axilla. The scrotum is one of the most uncommon sites. We report the case of a 12-year-old boy with pathologically confirmed cystic lymphangioma/lymphatic malformation in the scrotum. The diagnosis was suspected from ultrasonography and magnetic resonance imaging. The most common cause of a cystic mass in the scrotum is scrotal hydrocele, but cystic lymphangioma/lymphatic malformation should be considered as a differential diagnosis for multicystic scrotal mass. PMID:23986836

Akaike, Gensuke; Nozaki, Taiki; Makidono, Akari; Saida, Yukihisa; Hirabayashi, Takeshi; Suzuki, Koyu

2012-01-01

262

Prenatal diagnosis and management of fetal cardiovascular malformations.  

PubMed

Screening for fetal cardiovascular malformations is widely performed. Its accuracy is not yet satisfactory, but better training of ultrasonographers and extension from the four-chamber view to the study of the outflow tract are probably clues to an improvement. The main impact of prenatal diagnosis is still the termination of pregnancy for severe malformations and for those associated with chromosomal or extracardiac anomalies. There is now evidence that prenatal diagnosis improves perinatal morbidity or mortality for some malformations. New information about the molecular genetic basis of congenital heart disease will help in management and counselling. PMID:10813571

Todros, T

2000-04-01

263

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations  

PubMed Central

Background: Malformations are a major cause of morbidity and mortality in full term infants and genomic imbalances are a significant component of their aetiology. However, the causes of defects in many patients with multiple congenital malformations remain unexplained despite thorough clinical examination and laboratory investigations. Methods: We used a commercially available array based comparative genomic hybridisation method (array CGH), able to screen all subtelomeric regions, main microdeletion syndromes, and 201 other regions covering the genome, to detect submicroscopic chromosomal imbalances in 49 fetuses with three or more significant anomalies and normal karyotype. Results: Array CGH identified eight genomic rearrangements (16.3%), all confirmed by quantitative multiplex PCR of short fluorescent fragments. Subtelomeric and interstitial deletions, submicroscopic duplications, and a complex genomic imbalance were identified. In four de novo cases (15qtel deletion, 16q23.1–q23.3 deletion, 22q11.2 deletion, and mosaicism for a rearranged chromosome 18), the genomic imbalance identified clearly underlay the pathological phenotype. In one case, the relationship between the genotype and phenotype was unclear, since a subtelomeric 6q deletion was detected in a mother and her two fetuses bearing multiple malformations. In three cases, a subtelomeric 10q duplication, probably a genomic polymorphism, was identified. Conclusions: The detection of 5/49 causative chromosomal imbalances (or 4/49 if the 6qtel deletion is not considered as causative) suggests wide genome screening when standard chromosome analysis is normal and confirms that array CGH will have a major impact on pre and postnatal diagnosis as well as providing information for more accurate genetic counselling. PMID:15689449

Le Caignec, C; Boceno, M; Saugier-Veber, P; Jacquemont, S; Joubert, M; David, A; Frebourg, T; Rival, J

2005-01-01

264

Blue rubber bleb nevus syndrome  

Microsoft Academic Search

Opinion statement  \\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a Venous malformations of blue rubber bleb nevus syndrome (BRBNS) may involve any area of the gastrointestinal tract.\\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a Gastrointestinal blood loss and anemia brings these patients to the attention of gastroenterologists.\\u000a \\u000a \\u000a \\u000a \\u000a – \\u000a \\u000a Effective treatment of these malformations throughout the gastrointestinal tract requires aggressive management to ultimately\\u000a decrease blood loss and restore the patient’s hemoglobin to a near-normal

John M. Andersen

2001-01-01

265

Environmental causes of human congenital malformations: the pediatrician's role in dealing with these complex clinical problems caused by a multiplicity of environmental and genetic factors.  

PubMed

There have been amazing advances in embryology, teratology, reproductive biology, genetics, and epidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive diagnosis and cause in every instance. The purpose of this article is to inform pediatricians about environmental drugs, chemicals, and physical agents that have been documented to produce congenital malformations and reproductive effects and to indicate that the multitude of teratogenic agents account for only a small proportion of malformations. The most common known cause is genetic, but the largest group, unfortunately, There have been amazing advances in embryology, teratology, reproductive biology, genetics, and epidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive diagnosis and cause in every instance. The purpose of this article is to inform pediatricians about environmental drugs, chemicals, and physical agents that have been documented to produce congenital malformations and reproductive effects and to indicate that the multitude of teratogenic agents account for only a small proportion of malformations. The most common known cause is genetic, but the largest group, unfortunately, is unknown. There are a number of important clinical rules that are important for clinicians to use when determining the cause of their patient's congenital malformations: 1. No teratogenic agent should be described qualitatively as a teratogen, because a teratogenic exposure includes not only the agent but also the dose and the time in pregnancy when the exposure has to occur. 2. Even agents that have been demonstrated to result in malformations cannot produce every type of malformation. Known teratogens may be presumptively implicated by the spectrum of malformations that they produce. It is easier to exclude an agent as a cause of birth defects than to conclude definitively that it was responsible for birth defects, because of the existence of genocopies of some teratogenic syndromes. 3. When evaluating the risk of exposures, the dose is a crucial component in determining the risk. Teratogenic agents follow a toxicologic dose-response curve. This means that each teratogen has a threshold dose below which there is no risk of teratogenesis, no matter when in pregnancy the exposure occurred. 4. The evaluation of a child with congenital malformations cannot be performed adequately unless it is approached with the same scholarship and intensity as the evaluation of any other complicated medical problem. 5. Each physician must recognize the consequences of providing erroneous reproductive risks to pregnant women who are exposed to drugs and chemicals during pregnancy or alleging that a child's malformations are attributable to an environmental agent without performing a complete and scholarly evaluation. 6. Unfortunately, clinical teratology and clinical genetics is not emphasized in medical school and residency education programs, but pediatricians have a multitude of educational aids to assist them in their evaluations, which includes consultations with clinical teratologists and geneticists, the medical literature, and the OMIM web site. PMID:15060188

Brent, Robert L

2004-04-01

266

Marfan syndrome: An eyesight of syndrome?  

PubMed Central

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

Kumar, Ashok; Agarwal, Sarita

2014-01-01

267

Van der Woude Syndrome with Short Review of the Literature  

PubMed Central

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

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

2014-01-01

268

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

269

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

PubMed

Hindbrain herniations come in many forms and have been further subdivided as their original descriptions. For cerebellar tonsillar ectopia, they can be divided into two categories, acquired and congenital. Acquired hindbrain herniations are due to increased intracranial pressure caused by certain conditions such as trauma or brain tumor. Although the mechanism for their formation is not clear, congenital hindbrain herniation makes up the majority of these congenital malformations. Furthermore, these malformations are often found to harbor additional anatomical derailments in addition to the hindbrain herniation whether it be the cerebellar tonsils (Chiari I malformation) or the cerebellar vermis (Chiari II malformation). This article reviews these forms of cerebellar ectopia and describes the details of their anomalous anatomy. Moreover, this article compares and contrasts the differing embryological theories found in this literature. Clin. Anat. 28:184-194, 2015. © 2014 Wiley Periodicals, Inc. PMID:25065525

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

2015-03-01

270

Management strategy after diagnosis of Abernethy malformation: a case report  

PubMed Central

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

2012-01-01

271

Prenatal Diagnosis of Unusual Fetal Pial Arteriovenous Malformation  

PubMed Central

Summary Cerebral arteriovenous malformations (C-AVMs) are rarely diagnosed in utero. Most prenatal imaging of intracranial vascular malformations relates to Vein of Galen aneurysmal malformations (VGAMs) or Dural Arteriovenous Malformations (D-AVMs). We report a case of a fetal pial AVF with multiple fistulae and venous pouches, which appeared as an anechoic lesion on the prenatal ultrasound scan. The patient was asymptomatic with normal postnatal growth. No haemodynmaic disturbance was evident. Postnatal Computed tomography (CT), Magnetic Resonance Imaging (MRI) and catheter Digital Subtraction Angiography (DSA) confirmed the presence of a pial AVF. The angiographic findings and family history of nose bleeds suggests the diagnosis of Hereditary Hemorrhagic Telangiectasia. The largest AVF was embolized with tissue adhesive; the residual AVF subsequently removed by surgical excision. PMID:20591266

Auyeung, K.M.; Laughlin, S.; TerBrugge, K.G.

2003-01-01

272

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? Report on patients from Indian Ocean islands.  

PubMed

We report on six patients (five unpublished patients) from the Indian Ocean islands, with coarse face, cleft lip or palate, eye anomalies, brachytelephalangy, nail hypoplasia, various malformations (genitourinary or cerebral), abnormal electroencephalograms with impaired neurological examination and lethal outcome. Massive polyhydramnios was noted in the third trimester of pregnancy and neonatal growth was normal or excessive. The combination of the features is consistent with the diagnosis of Fryns syndrome (FS) without congenital diaphragmatic hernia. Besides chromosomal aberrations and microdeletion syndrome, differential diagnoses include conditions overlapping with FS such as Simpson-Golabi-Behmel, and conditions with hypoplasia/absence of the distal phalanges such as DOOR syndrome, Schinzel-Giedion syndrome, and Rudiger syndrome. PMID:24357154

Alessandri, Jean-Luc; Cuillier, Fabrice; Malan, Valerie; Brayer, Claire; Grondard, Maeva; Jacquemot-Dekkak, Laure; Kieffer-Traversier, Marie; Pierre, Florence; Laurain, Céline; Samperiz, Sylvain; Tiran-Rajaofera, Isabelle; Ramful, Duksha

2014-03-01

273

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

274

Novel transcatheter closure of internal iliac arteriovenous malformation.  

PubMed

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

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

2011-05-01

275

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

276

Intracranial hypertension associated with unruptured cerebral arteriovenous malformations.  

PubMed

Only 6 patients with intracranial hypertension associated with unruptured cerebral arteriovenous malformations have been reported. We report 6 additional patients seen at the Cleveland Clinic during the past 10 years. The average age was 28 years (range, 19-44 years); 4 were women. Symptoms and signs included papilledema (6 patients), headache (6), transient nonepileptic focal symptoms (4), visual obscurations (3), ipsilateral carotid or ocular bruits (3), abnormal visual fields (3), focal seizures (2), and progressive visual loss (1). Enhanced computed tomography (CT) or magnetic resonance imaging (MRI) demonstrated the malformations in all 6 patients. The malformations were large, supplied by the branches of the middle and anterior cerebral arteries, with the posterior cerebral artery contributing in 3 patients, and all drained into the superior sagittal sinus. Associated venous obstruction was seen in 2 patients. Four patients underwent excision of the arteriovenous malformation, with resolution of papilledema in all 4. Measurements of cortical arterial and venous pressures during surgery in 3 patients showed decreased feeding artery pressures and elevated draining vein pressures, which normalized after removal of the malformation. Treatment in the 2 remaining patients consisted of medical therapy (acetazolamide, furosemide, steroids) alone in 1 patient, and in conjunction with proton beam radiation in the other. Papilledema resolved in the former patient, but the patient receiving proton beam radiation still had papilledema 2 years later. Intracranial hypertension associated with unruptured cerebral arteriovenous malformations occurs in young patients with high flow malformations that drain into the superior sagittal sinus, and is likely the result of increased cortical venous and superior sagittal sinus pressure. Excision of the malformation effectively reduces the intracranial pressure. PMID:2193610

Chimowitz, M I; Little, J R; Awad, I A; Sila, C A; Kosmorsky, G; Furlan, A J

1990-05-01

277

Neu-Laxova syndrome: a case report.  

PubMed

Neu-Laxova syndrome (NLS) is a rare lethal syndrome found in both consanguinous and non-consanguinous couple. This is characterized by terrible face with unusual craniofacial appearance with exophthalmos, spectrum of central nervous system malformation, like microcaphaly, hypoplastic cerebellum, cleft lip/palate, ichthyosis and oedema. The diagnosis is made on the basis of clinical parameter. We report a 4 hour old male term newborn with IUGR of Neu-Laxova syndrome presented with anencephaly, rudimentary cerebellum, exophthalmos of right eye, bilateral cleft lip and palate and cryptorchidism. Anencephaly and cryptorchidism are two recently reported findings of NLS. We are presenting this case in addition from Bangladesh to lend further support to those two new findings as component of Neu-Laxova syndrome. Outcome of this syndrome is not good. Most of the patients are died of infection within hours to days. PMID:24584393

Roy, S; Begum, J; Sharifunnaher, B; Saha, A K; Afroza, S; Islam, M Z

2014-01-01

278

Sleep Spindle Alterations in Patients with Malformations of Cortical Development  

PubMed Central

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

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

2009-01-01

279

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

280

Giant cystic cerebral cavernous malformation with multiple calcification - case report.  

PubMed

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

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

2013-09-01

281

The clinical and genetic picture of trisomy 18 (Edwards' syndrome)  

Microsoft Academic Search

Six patients with Edwards' syndrome were studied. One child (case 2) was found to have a structural anomaly of a B chromosome as well as an extra chromosome of pair No. 18: 47,XY,18+,inv.(Bp+q-). Case 3 showed additional malformations not commonly present in Edward's syndrome. Case 4 was a twin; the twin sister was clinically and chromosomally normal. In case 6,

K. Shibata; C. Waldenmaier; W. Hirsch

1973-01-01

282

[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 of oral-facial-digital syndrome type I with some phenotypic variability between them. PMID:25362921

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

2014-12-01

283

Morphological aspects in a urogenital malformation, complex and rare, in a child.  

PubMed

The aim of this study follows the detailed evolution of a child diagnosed with prune-belly syndrome. This syndrome is a complex dysplasia, a rare pathology in children, characterized by the triad--the classic--hypo- or aplasia of righteous abdominal, cryptorchidism, abnormality of the urinary tract; also, it can be associated with pulmonary, cardiac, digestive, osteoarticular, and other malformations. Diagnostic criteria and etiopathogeny aspects are presented showing embryopathy and X-linked hereditary transmission theories as the most plausible, as proofed by recent genetic studies. Analyzing therapeutic aspects, it is stressed that medical treatment precedes or follows surgery, which cannot resolve urinary infection unless dysplastic urinary reconstruction is performed. Serious forms of prune-belly syndrome have a development and poor prognosis. Intrauterine and neonatal mortality is 20% and 50% in the first two years of life. The risk of urinary infection and/or lungs burdens the patient's clinical condition, allowing further appreciation on evolution of the disease. For cases solvable by plastic surgical reconstruction, as those who respond to medical therapy, differentiation will be monitored in territory and check-ups by the specialized consulting room from Polyclinic Health Center. Urinary infection relapse danger is permanent, requiring differentiated supervision. These case interest practitioners, by at least two aspects: the rarity of the disease, and complexity of dysplasia constituent, which has serious implications on the body economy. PMID:22732818

Leordean, Viorica; Laz?r, D; Trofenciuc, M

2012-01-01

284

Section of the filum terminale: is it worthwhile in Chiari type I malformation?  

PubMed

A section of the filum terminale (SFT) is used for the surgical treatment of isolated tethered cord or that resulting from neurulation disorders. More recently, it has been proposed for the management of the occult tethered cord syndrome (OTCS), though it is still under debate. Even more controversial appears to be the use of SFT in patients with Chiari type I malformation (CIM), which is based on the possible presence of OTCS. This review shows that: (1) there are issues both in favor and against the occurrence of OTCS, (2) there is no significant correlation between CIM and tethered cord, the old "caudal traction theory" being not supported by clinical or experimental evidences. On these grounds, a relationship between CIM and OTCS is hard to be demonstrated, (3) a subgroup of patients with CIM suffering from OTCS may exist and benefit from SFT. PMID:21800080

Massimi, Luca; Peraio, Simone; Peppucci, Elisabetta; Tamburrini, Gianpiero; Di Rocco, Concezio

2011-12-01

285

Exploiting phenotypic plasticity for the treatment of hepatopulmonary shunting in Abernethy malformation.  

PubMed

An 11-year-old boy presented with exercise intolerance due to chronic hypoxemia. Work-up revealed a diagnosis of hepatopulmonary syndrome (HPS) secondary to a congenital extrahepatic portal-venous shunt (Abernethy malformation). Plasticity in the developing liver was exploited as a strategy for the treatment of HPS. With use of a staged endovascular approach, the portosystemic vascular circuitry was modified in a manner that facilitated progressive growth and development of the severely hypoplastic and underdeveloped intrahepatic portal venous system. After completion of the final procedure, the patient's intrahepatic portal veins were normal in appearance; 2 months later, signs and symptoms of HPS completely resolved. The patient remains free of HPS stigmata after 2 years. PMID:20399112

Kuo, Michael D; Miller, Franklin J; Lavine, Joel E; Peterson, Michael; Finch, Michael

2010-06-01

286

Cerebral arteriovenous malformation associated with moyamoya disease.  

PubMed

The coexistence of moyamoya disease (MMD) with an arteriovenous malformation (AVM) is exceedingly rare. We report two cases of AVM associated with MMD. The first case was an incidental AVM diagnosed simultaneously with MMD. This AVM was managed expectantly after encephalo-duro-arterio-synangiosis (EDAS) as the main feeders stemmed from the internal carotid artery, which we believed would be obliterated with the progression of MMD. However, the AVM persisted with replacement of the internal carotid artery feeders by new external carotid artery feeders from the EDAS site. The AVM was eventually treated with gamma knife radiosurgery considering an increasing steal effect. The second case was a de novo AVM case. The patient was initially diagnosed with MMD, and acquired an AVM eight years later that was slowly fed by the reconstituted anterior cerebral artery. Because the patient remained asymptomatic, the AVM is currently being closely followed for more than 2 years without further surgical intervention. Possible differences in the pathogenesis and the radiologic presentation of these AVMs are discussed with a literature review. No solid consensus exists on the optimal treatment of MMD-associated AVMs. Gamma knife radiosurgery appears to be an effective treatment option for an incidental AVM. However, a de novo AVM may be managed expectantly considering the possible risks of damaging established collaterals, low flow characteristics, and probably low risks of rupture. PMID:25371789

Noh, Jung-Hoon; Yeon, Je Young; Park, Jae-Han; Shin, Hyung Jin

2014-10-01

287

Intraoperative embolization of cerebral arteriovenous malformations.  

PubMed

Nineteen patients with large cortical or deep seated cerebral arteriovenous malformation (AVM) were treated with intraoperative embolization using bucrylate (isobutyl-2-cyanoacrylate, IBC). In three cases of medium-sized AVM, the procedure was followed by a total excision of the lesion during the same operation. The results were excellent. In one case a hematoma and brain swelling following embolization necessitated total removal immediately afterwards. In eight patients embolization was carried out in two or three stages, to achieve a gradual obliteration of the shunt and to diminish the risk of postoperative brain swelling. Nevertheless, in three of these patients, postoperative hemiplegia was seen, which, however, improved considerably over a 1-2 year period. Complete occlusion of the shunt was obtained in only two patients. Seven patients underwent single-stage embolization, which resulted in partial obliteration of the AVM in six of them. In two of these, this treatment had been proposed for the accompanying symptoms of seizures and ischemic attacks. In all but one case the epileptic seizures decreased or disappeared completely after embolization. One patient suffered intracerebral bleeding three months after partial obliteration. Mortality was zero. It is argued that an alteration of the cerebral circulation with subsequent hyperemia is the most important sequela of rapid obliteration of large AVMs. Some details concerning the structure of cerebral AVMs are discussed. PMID:3736906

van Alphen, H A

1986-01-01

288

[Laparoscopic surgical treatment of anorectal malformations].  

PubMed

Anorectal Malformations (ARM) include a wide spectrum of anomalies, ranging from anal and rectal agenesis (usually associated with a recto-urethral, rectovaginal or recto-vestibular fistula) to ano-cutaneous fistula. On the basis of studies on the anatomy of the muscular structures contained in the pelvic cavity and on the physiology of the mechanisms which regulate the continence, many different techniques have been performed to allow a surgical treatment for the ARMs and to obtain post-operative results as nearer as possible to normality, that is to an adequate colic motility and a defecation control. In 2000, a new surgical technique for high and intermediate ARMs has been introduced, the laparoscopically assisted ano-rectal pull-through (LAARP) according to Georgeson. At the Department of Pediatric Surgery, Bologna University, from 2000 to nowadays, we have treated with LAARP 7 cases of high ARMs, all male patients and with colostomy. The average age at operation was between 2 and 10 months. PMID:17533901

Lima, M; Antonellini, C; Ruggeri, G; Libri, M; Gargano, T; Mondardini, M C

2006-01-01

289

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

290

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

291

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 ...

292

Tourette Syndrome  

MedlinePLUS

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

293

Wallenberg's Syndrome  

MedlinePLUS

NINDS Wallenberg's Syndrome Information Page Synonym(s): Lateral Medullary Syndrome Table of Contents (click to jump to sections) What is ... is being done? Clinical Trials Organizations What is Wallenberg's Syndrome? Wallenberg’s syndrome is a neurological condition caused ...

294

Familial Ectrodactyly Syndrome in a Nigerian Child: A Case Report  

PubMed Central

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

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

2011-01-01

295

Epidemiology and natural history of arteriovenous malformations.  

PubMed

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

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

2001-01-01

296

Anaesthetic management for Edward's syndrome.  

PubMed

We report the anaesthetic management for a Cohen procedure in a girl with Edward's syndrome (trisomy 18). Information in the literature about anaesthetic management in trisomy 18 patients is poor. The patients are dysmorphic, have severe mental retardation and multiple organ malformations of which congenital heart disease is the most important. Our patient was a 7 year-old girl, such a survival being exceptional with trisomy 18. Anaesthesia is high risk and pain assessment is difficult. Establishing good relations with the family and appraising the need for surgical procedures are the main other difficulties. PMID:12641692

Courrèges, P; Nieuviarts, R; Lecoutre, D

2003-03-01

297

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

PubMed Central

Objective: To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18. Materials and Methods: In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18. We evaluated the predominant signs leading to referral, the difference and overlap in presenting signs between both syndromes and when the data were available, we also compared the echographic signs with the foetal pathology. Results: In foetuses with trisomy 13 the most common malformations were craniofacial defects, cerebral malformations and genitourinary tract anomalies. The most common malformations associated with trisomy 18 were limb abnormalities and intrauterine growth restriction. Most malformations were predominant in trisomy 18, except for genitourinary tract anomalies. In most cases the sonographic signs correlated with the pathology findings. Conclusion: Trisomy 13 as well as trisomy 18 are characterized by a number of various malformations in the foetus. Most of the ultrasound features were predominant in foetuses with trisomy 18. Mostly the foetal pathology correlated with the sonographic evaluation. PMID:25593701

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

2014-01-01

298

Syndrome of arachnomelia in Simmental cattle  

PubMed Central

Background The syndrome of arachnomelia is an inherited malformation mainly of limbs, back and head in cattle. At present the arachnomelia syndrome has been well known mainly in Brown Swiss cattle. Nevertheless, the arachnomelia syndrome had been observed in the Hessian Simmental population during the decade 1964–1974. Recently, stillborn Simmental calves were observed having a morphology similar to the arachnomelia syndrome. The goal of this work was the characterization of the morphology and genealogy of the syndrome in Simmental to establish the basis for an effective management of the disease. Results The first pathologically confirmed arachnomelia syndrome-cases in the current Simmental population appeared in the year 2005. By 2007, an additional 140 calves with the arachnomelia syndrome were identified. The major pathological findings were malformed bones affecting the head, long bones of the legs and the vertebral column. It could be shown that, with the exception of two cases that were considered as phenocopies, all of the paternal and about two-third of the maternal pedigrees of the affected calves could be traced back to one common founder. Together with the data from experimental matings, the pedigree data support an autosomal recessive mutation being the etiology of the arachnomelia syndrome. The frequency of the mutation in the current population was estimated to be 3.32%. Conclusion We describe the repeated occurrence of the arachnomelia syndrome in Simmental calves. It resembles completely the same defect occurring in the Brown Swiss breed. The mutation became relatively widespread amongst the current population. Therefore, a control system has to be established and it is highly desirable to map the disease and develop a genetic test system. PMID:18828914

Buitkamp, Johannes; Luntz, Bernhard; Emmerling, Reiner; Reichenbach, Horst-Dieter; Weppert, Myriam; Schade, Benjamin; Meier, Norbert; Götz, Kay-Uwe

2008-01-01

299

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

300

Local Model of Arteriovenous Malformation of the Human Brain  

NASA Astrophysics Data System (ADS)

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

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

2013-02-01

301

Anorectal Malformations Associated with Esophageal Atresia in Neonates  

PubMed Central

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

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

2013-01-01

302

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

PubMed Central

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

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

2013-01-01

303

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

PubMed

Fibroblast growth factor (FGF) signaling mutations are a frequent contributor to craniofacial malformations including midfacial anomalies and craniosynostosis. FGF signaling has been shown to control cellular mechanisms that contribute to facial morphogenesis and growth such as proliferation, survival, migration and differentiation. We hypothesized that FGF signaling not only controls the magnitude of growth during facial morphogenesis but also regulates the direction of growth via cell polarity. To test this idea, we infected migrating neural crest cells of chicken embryos with  replication-competent avian sarcoma virus expressing either FgfR2(C278F), a receptor mutation found in Crouzon syndrome or the ligand Fgf8. Treated embryos exhibited craniofacial malformations resembling facial dysmorphologies in craniosynostosis syndrome. Consistent with our hypothesis, ectopic activation of FGF signaling resulted in decreased cell proliferation, increased expression of the Sprouty class of FGF signaling inhibitors, and repressed phosphorylation of ERK/MAPK. Furthermore, quantification of cell polarity in facial mesenchymal cells showed that while orientation of the Golgi body matches the direction of facial prominence outgrowth in normal cells, in FGF-treated embryos this direction is randomized, consistent with aberrant growth that we observed. Together, these data demonstrate that FGF signaling regulates cell proliferation and cell polarity and that these cell processes contribute to facial morphogenesis. PMID:23906837

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

2013-12-20

304

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

PubMed

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

Duga, Balazs; Czako, Marta; Komlosi, Katalin; Hadzsiev, Kinga; Torok, Katalin; Sumegi, Katalin; Kisfali, Peter; Kosztolanyi, Gyorgy; Melegh, Bela

2014-01-01

305

[Throbbing buttocks syndrome].  

PubMed

The authors define the "throbbing buttocks syndrome" which can in fact correspond to different pathological entities: aneurysm of the persistent sciatic artery and/or congenital or traumatic arteriovenous fistula of the hypogastric and gluteal vessels. Seven cases are reported: 1 case of aneurysm of the persistent sciatic artery complicated by truncal embolism and fissuring which was treated successfully by occlusive endoaneurysmorrhaphy; and 6 cases of arteriovenous fistulas (1 traumatic and 5 congenital). In all cases of arteriovenous fistula the technique used involved initial embolization which was complicated by anterior ligature of the hypogastric artery and then by excision of the malformation which was extremely hemorrhagic in some cases. Out of these 6 cases, results have been satisfactory for 5 and incomplete for the remaining one. PMID:2778393

Natali, J; Jue Denis, P; Kieffer, E; Merland, J J

1989-01-01

306

Comparison of an animal model of arteriovenous malformation with human arteriovenous malformation.  

PubMed

This study assessed the blood flow and histological changes of an animal model of arteriovenous malformation (AVM) over 84 days in 71 rats, and compared the histological findings to 17 specimens of human AVM. Carotid-jugular fistula blood flow positively correlated with time. The maximum flow rate occurred at 42 days, at which time the nidus was considered mature and was histologically similar to human AVMs. Morphological similarities between the model and human AVM vessels included heterogeneously thickened walls, splitting of the elastic lamina, thickened endothelial layers, endothelial cushions, lack of tight junctions, loss of endothelial continuity, endothelial-subendothelial adherent junctions, and luminally directed filopodia. These findings support the theory that vascular changes in human AVMs are secondary to increased flow and provide a basis for using this model in studies of AVMs. PMID:19910197

Tu, Jian; Karunanayaka, Athula; Windsor, Apsara; Stoodley, Marcus A

2010-01-01

307

Cutaneous vascular malformation in a guinea pig (Cavia porcellus).  

PubMed

A skin lesion classified as a vascular malformation is reported in a young-adult, female guinea pig. The physical examination revealed a 3 x 2-cm irregularly shaped violaceous plaque located on the left caudal flank. The surface of the plaque was ulcerated and bled intermittently, resulting in fatal blood loss. On histology the mass consisted of variably sized vascular spaces filled with red blood cells and variable amounts of extramedullary haematopoietic cells, lined by well-differentiated endothelial cells often surrounded by one layer of spindle-shaped cells. Based on immunohistochemistry, the spindle cell population was confirmed to be smooth muscle cells and no proliferation of endothelial cells was found with the Ki67 proliferation marker. Histological and immunohistochemical findings were consistent with a vascular malformation. Classification of vascular malformations and potential treatments are discussed. To the authors' knowledge, this is the first reported case of a cutaneous vascular lesion in a guinea pig. PMID:14989706

Osofsky, Anna; De Cock, Hilde E V; Tell, Lisa A; Norris, Aimee J; White, Stephen D

2004-02-01

308

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

309

Spinal dysraphism: genetic relation to neural tube malformations.  

PubMed Central

The families of 207 index patients treated for spinal dysraphism at The Hospital for Sick Children were studied to discover whether the condition was aetiologically related to the classical neural tube malformation--spina bifida cystica and anencephaly. The index patients had all had a tethered conus medullaris and one or more of a variety of anomalies of the spinal cord, vertebrae, or skin overlying the vertebral column. Of 364 sibs of index patients, 9 had an encephaly and 6 spina bifida cystica, a pro-proportion of 4.12%. This approximates to the proportion of sibs affected by neural tube malformations in the London region when the index patients themselves have spina bifida or anencephaly. It is, therefore, appropriate that the mothers of children with spinal dysraphism should be offered prenatal screening for neural tube malformations. PMID:794474

Carter, C O; Evans, K A; Till, K

1976-01-01

310

Ellis-van Creveld Syndrome: A Case Report  

PubMed Central

ABSTRACT Ellis-van Creveld syndrome also known as chondroectodermal dysplasia or mesoectodermal dysplasia; a rare genetic disorder of the skeletal dysplasia. ‘Six-fingered dwarfism’ (digital integer deficiency) was an alternative designation used for this condition when it was being studied in the Amish. It is characterized by short-limb dwarfism, polydactyly, malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation and often prenatal eruption of the teeth. A typical case of Ellis-van Creveld syndrome is reported in the present article. How to cite this article: Singh S, Arya V, Daniel MJ, Vasudevan V. Ellis-van Creveld Syndrome: A Case Report . Int J Clin Pediatr Dent 2012;5(1):72-74. PMID:25206139

Arya, Vandana; Daniel, M Jonathan; Vasudevan, Vijeev

2012-01-01

311

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

312

Endocrine abnormalities in Townes-Brocks syndrome.  

PubMed

Townes-Brocks syndrome is a recognizable variable pattern of malformation caused by mutations to the SALL1 gene located on chromosome 16q12.1. Only three known cases of Townes-Brocks syndrome with proven SALL1 gene mutation and concurrent endocrine abnormalities have been previously documented to our knowledge [Kohlhase et al., 1999; Botzenhart et al., 2005; Choi et al., 2010]. We report on two unrelated patients with Townes-Brocks syndrome who share an identical SALL1 mutation (c.3414_3415delAT), who also have endocrine abnormalities. Patient 1 appears to be the first known case of growth hormone deficiency, and Patient 2 extends the number of documented mutation cases with hypothyroidism to four. We suspect endocrine abnormalities, particularly treatable deficiencies, may be an underappreciated component to Townes-Brocks syndrome. PMID:23894113

Lawrence, Cara; Hong-McAtee, Irene; Hall, Bryan; Hartsfield, James; Rutherford, Andrew; Bonilla, Tracy; Bay, Carolyn

2013-09-01

313

Management of scrotal arteriovenous malformation with transcatheter embolisation coils and percutaneous sclerotherapy under angiographic guidance.  

PubMed

Arteriovenous malformations of the scrotum are infrequent and are usually treated by a combination of endovascular embolisation and surgery. We present a case of scrotal arteriovenous malformation treated effectively by a combination of endovascular and direct percutaneous techniques. PMID:25492446

So, Wing Lung Alvin; Chaganti, Joga; Waugh, Richard; Ferguson, Richard J

2014-12-10

314

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 ...

315

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

316

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

317

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

318

Maternal smoking habits and congenital malformations: a population study.  

PubMed Central

Maternal smoking habits in 67 609 singleton pregnancies were examined. The overall incidence of congenital malformations was 2.8% in both non-smokers and smokers. On analysing congenital defects according to individual systems there was no significant difference in the incidence of malformations according to the number of cigarettes smoked, except for neural tube defects. Further analysis, taking social class into account, showed that neural tube defects were less common in non-smokers in social classes I and II. This study suggests that maternal smoking does not have teratogenic effects in the offspring, except in the case of neural tube defects, where the effect is at most modest. PMID:466337

Evans, D R; Newcombe, R G; Campbell, H

1979-01-01

319

A large pelvic arteriovenous malformation in an adult patient with cystic fibrosis  

PubMed Central

We present a prepubertal male cystic fibrosis patient with high circulating oestrogen levels (as a consequence of severe cystic-fibrosis-related hepatobiliary disease) who subsequently developed a large pelvic arteriovenous malformation. This has not previously been described in patients with cystic fibrosis, despite the association between high oestrogen levels and arteriovenous malformations. The aetiology and treatment options of arteriovenous malformations are discussed.???Keywords: arteriovenous malformation; cystic fibrosis PMID:10435171

Ledson, M; Wahbi, Z; Harris, P; Walshaw, M

1999-01-01

320

Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation.  

PubMed

Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular changes. A de novo heterozygous change in the RAF1 gene was identified. The patient underwent brain magnetic resonance imaging, computed tomography angiography, and magnetic resonance angiography to further clarify the nature of his abnormal brain vasculature. The authors compared his findings to the few cases of Noonan syndrome reported with cerebrovascular pathology. PMID:23877478

Zarate, Yuri A; Lichty, Angie W; Champion, Kristen J; Clarkson, L Kate; Holden, Kenton R; Matheus, M Gisele

2013-07-21

321

Mowat-Wilson syndrome in a Moroccan consanguineous family  

PubMed Central

Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly syndrome characterized by a typical facies, developmental delay, epilepsy, and variable congenital malformations, including Hirschsprung disease, urogenital anomalies, congenital heart disease, and agenesis of the corpus callosum. This disorder is sporadic and is caused by heterozygous mutations or deletions of the ZFHX1B gene located in the 2q22 region. We report here the first Moroccan patient, born to consanguineous parents, with Mowat-Wilson syndrome, due to a de novo, unreported mutation of the ZFHX1B gene. PMID:21957361

Ratbi, Ilham; Elalaoui, Chafai Siham; Dastot-Le, Moal Florence; Goossens, Michel; Giurgea, Irina; Sefiani, Abdelaziz

2007-01-01

322

[Osteosarcoma and ATR-16 syndrome: Association or coincidence?].  

PubMed

ATR-16 syndrome is due to alterations on chromosome 16p13.3, and is usually accompanied by alpha-thalassemia, mild-moderate mental retardation, dysmorphic facial features, skeletal and genitourinary malformations. There are no references of the combination of ATR-16 syndrome and osteosarcoma in the literature. Osteosarcoma usually has a complex karyotype, characterized by a high degree of heterogeneity of chromosomal aberrations, among which is the involvement of chromosome 16. We report a case of a patient with ATR-16 syndrome diagnosed with femoral osteosarcoma. PMID:24631100

Regueiro García, A; Saborido Fiaño, R; González Calvete, L; Vázquez Donsión, M; Couselo Sánchez, J M; Fernández Sanmartín, M

2015-01-01

323

Gorlin-Goltz syndrome: A rare case report  

PubMed Central

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

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

2013-01-01

324

[Coexistence of pulmonary sequestration and congenital cystic adenomatoid malformation. Case report and review of literature].  

PubMed

This paper presents a case report of an infant, with a prenatally diagnosed congenital lung malformation, which proved to be pulmonary sequestration and congenital cystic adenomatoid malformation. The authors discuss current knowledge on diagnosis, clinical course and suggestions of ante- and postnatal management of patients with pulmonary sequestration or/and congenital cystic lung malformation. PMID:24964242

Sanocki, Marcin Tomasz; Dudek, Anna; Krenke, Katarzyna; Karolczak, Maciej; Motylewicz, Barbara; Kulus, Marek

2014-01-01

325

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.  

PubMed

FG syndrome is an X-linked incomplete recessive condition comprising mental retardation, congenital hypotonia, macrocephaly, a distinctive facial appearance, and constipation or anal malformations. Here, we report on a chromosome X inversion [inv(X)(q12q28)] in a boy with FG syndrome and in his mentally retarded maternal uncle, and we discuss the possible involvement of this paracentric inversion in the FG syndrome. PMID:10449643

Briault, S; Odent, S; Lucas, J; Le Merrer, M; Turleau, C; Munnich, A; Moraine, C

1999-09-10

326

Selected case from the Arkadi M. Rywlin international pathology slide series: lymphangiomatosis of the spleen associated with ipsilateral abdominopelvic and lower extremity venolymphatic malformations: a case report and review of the literature.  

PubMed

Herein, we report a 26-year-old patient with lymphangiomatosis of the spleen associated with multiple lymphatic and venous malformations. This patient underwent excision of a large lymphatic malformation of the left abdominal wall during childhood. A venous malformation of her left lower limb was excised during adolescence. Additional lymphatic malformations were found in the soft tissue of her left thigh at the age of 20. During hospitalization for a huge vulvar hemangioma at the age of 26, she was incidentally found to have asymptomatic splenomegaly, for which she underwent splenectomy. Examination of the spleen revealed diffuse involvement by a lymphatic anomaly predominantly forming small cystic spaces. Lymphangiomatosis of the spleen is rare and is classically separated into an isolated or pure form and a generalized form when it is associated with involvement of other viscera and/or multiple soft-tissue planes. This patient was affected by a borderline form of splenic lymphangiomatosis with limited somatic involvement of the superficial soft tissues and blood vessels. Notably, all the additional vascular malformations in this patient were left sided, and at this time there was no additional involvement of internal organ. No hereditary or known syndrome was identified. PMID:24911254

Bisceglia, Michele; Chiaramonte, Antonio; Lauriola, Walter; Galliani, Carlos A; Musto, Pellegrino; Colacchio, Giovanni

2014-07-01

327

Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations  

Microsoft Academic Search

Hereditary hemorrhagic telangiectasia (HHT) is a heterogeneous disease that can present with a variety of clinical manifestations. The neurovascular complications of this disease, especially in children, may be potentially devastating. The purpose of this article was to review the therapeutic results of endovascular treatment of neurovascular malformations in children. A total of 31 patients under the age of 16 were

T. Krings; S. M. Chng; A. Ozanne; H. Alvarez; G. Rodesch; P. L. Lasjaunias

2005-01-01

328

Anorectal malformations associated with a presacral tumor and sacral defect  

Microsoft Academic Search

The triad of anorectal malformation, presacral mass, and sacral bony defect is quite rare. During the past 18 years, five patients with this triad were treated in our institutions. Four had covered anal or anorectal stenosis, while one infant had anorectal agenesis. There was a central defect of the sacral bone in three and sacral hemivertebrae in two patients. An

Yoshiaki Tsuchida; Watit Watanasupt; Toshio Nakajo

1989-01-01

329

The role of colostomy in the management of anorectal malformations  

Microsoft Academic Search

The role of the colostomy in the definitive correction of anorectal malformations is controversial with regard no only to indications for its use, but also to location and type. We reviewed the records of 272 patients with 307 colostomies and analyzed the frequency of complications related to these controversial points. There were 250 completely divided and 57 loop colostomies, constructed

Steven Wilkins; Alberto Pefia

1988-01-01

330

Congenital Malformations and Birthweight in Areas with Potential Environmental Contamination  

Microsoft Academic Search

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure

Gary M. Shaw; Jane Schulman; Jonathan D. Frisch; Susan K. Cummins; John A. Harris

1992-01-01

331

Congenital malformations and birthweight in areas with potential environmental contamination  

Microsoft Academic Search

Public concern exists about the potential for reproductive damage that may result from exposures to environmental contaminants. Therefore, the authors sought to determine if there was an association between a child's congenital malformation or a child's lowered weight at birth and his or her mother's residence in a census tract where a site of environmental contamination had been documented. Exposure

G. M. Shaw; J. Schulman; J. D. Frisch; J. A. Harris; S. K. Cummins

2009-01-01

332

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

333

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...

334

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

335

Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review  

ERIC Educational Resources Information Center

Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature…

Bolduc, Marie-Eve; Limperopoulos, Catherine

2009-01-01

336

Radiological anatomy of the vascularization of cranial dural arteriovenous malformations  

Microsoft Academic Search

Summary Knowledge of the radiological anatomy of the cranial durai vascularization allows a flexible and appropriate approach to the pretherapeutic investigation of cranial durai arteriovenous malformations. The variability of the origin of these arteries requires that several possible sources of vascular supply be investigated — internal carotid, internal maxillary, ascending pharyngeal, occipital and vertebral — and that each of their

P. Lasjaunias; L. Lopez-Ibor; A. Abanou; Ph. Halimi

1984-01-01

337

[MRI of malformative syringomyelia. Descriptive and developmental aspect].  

PubMed

132 cases of malformative syringomyelia have been studied at the C.I.E.R.M. (Interdepartmental Magnetic Resonance Center) of Bicêtre Hospital. The authors describe their technique for the exploration on the cord in case of suspected intramedullary cavitation, and emphasize the morphological and evolutive aspects of these abnormalities, whether they have been operated or not. PMID:1602436

Bekkali, F; Doyon, D; Idir, A B; Belal, N; Hurth, M; Ayache, B; Ducot, B

1992-02-01

338

Recurrent Arteriovenous Malformation of the Scrotum Secondary to Pelvic Trauma  

Microsoft Academic Search

We describe a case of recurrent scrotal arteriovenous malformation (AVM) in a young man secondary to pelvic fracture sustained during a road traffic accident. This was diagnosed as a lipoma on the ultrasound and clinical examination. To our knowledge, this is the first reported case of recurrent scrotal AVM secondary to trauma.

Vineet Agrawal; Pankaj Dangle; Suks Minhas; David Ralph; Nim Christopher

2006-01-01

339

Rolandic arteriovenous malformations: improvement in limb function by IBC embolization.  

PubMed

Three patients with arteriovenous malformations in the rolandic region and significant limb deficit showed virtually complete functional recovery after awake operative embolization of most of the malformations using isobutyl-2 cyanoacrylate. Two of these patients, with functionally useless hands, had sustained the deficits months earlier as the result of a specific brain-damaging event: one as a result of surgery and the other as a result of a hemorrhage. Both of these showed significant return of function during the awake operative embolization procedure. The other patient had had progressive leg weakness over a 2 year period. The theory of steal phenomenon as an explanation for progressive neurologic deficits in association with large arteriovenous malformations must be extended to explain apparently stable deficits after some brain trauma (surgery or hemorrhage). These results suggest that some patients with arteriovenous malformations and without clinical deficits who are near a critical level of "near ischemia" may be thrown out of balance by an acute interceding event. PMID:3927674

Fox, A J; Girvin, J P; Viñuela, F; Drake, C G

1985-01-01

340

Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation  

SciTech Connect

Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.

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

2007-11-15

341

Clinical features in adult patient with Wolf-Hirschhorn syndrome.  

PubMed

The Wolf-Hirschhorn syndrome (WHS) encompasses deletions at the distal part of the short arm of one chromosome 4 (4p16 region). Clinical signs frequently include a typical facial appearance, mental retardation, intrauterine and postnatal growth retardation, hypotonia with decreased muscle bulk and seizures besides congenital heart malformations, midline defects, urinary tract malformations and brain, hearing and ophthalmologic malformations. Pathogenesis of WHS is multigenic and many factors are involved in prediction of prognosis such as extent of deletion, the occurrence of severe chromosome anomalies, the severe of seizures, the existence of serious internal, mainly cardiac, abnormalities and the degree of mental retardation. The phenotype of adult with WHS is in general similar to that of childhood being facial dysmorphism, growth retardation and mental retardation the rule in both adults and children. Avoid long-term complications and provide rehabilitation programs and genetic counseling may be essential in these patients. PMID:24656633

Martínez-Quintana, E; Rodríguez-González, F

2014-06-01

342

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 ...

343

Brown Syndrome  

MedlinePLUS

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

344

Metabolic Syndrome  

MedlinePLUS

... is a signal that someone could be on the road to serious health problems. Diagnosing metabolic syndrome helps ... like heart disease or type 2 diabetes down the road. What Exactly Is Metabolic Syndrome? Metabolic syndrome is ...

345

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 ...

346

Angelman Syndrome  

MedlinePLUS

... being done? Clinical Trials Organizations What is Angelman Syndrome? Angelman syndrome is a genetic disorder that causes developmental ... and ultimately cure them. NIH Patient Recruitment for Angelman Syndrome Clinical Trials At NIH Clinical Center Throughout the ...

347

Large offspring syndrome  

PubMed Central

Beckwith-Wiedemann syndrome (BWS) is a human loss-of-imprinting syndrome primarily characterized by macrosomia, macroglossia, and abdominal wall defects. BWS has been associated with misregulation of two clusters of imprinted genes. Children conceived with the use of assisted reproductive technologies (ART) appear to have an increased incidence of BWS. As in humans, ART can also induce a similar overgrowth syndrome in ruminants which is referred to as large offspring syndrome (LOS). The main goal of our study is to determine if LOS shows similar loss-of-imprinting at loci known to be misregulated in BWS. To test this, Bos taurus indicus × Bos taurus taurus F1 hybrids were generated by artificial insemination (AI; control) or by ART. Seven of the 27 conceptuses in the ART group were in the > 97th percentile body weight when compared with controls. Further, other characteristics reported in BWS were observed in the ART group, such as large tongue, umbilical hernia, and ear malformations. KCNQ1OT1 (the most-often misregulated imprinted gene in BWS) was biallelically-expressed in various organs in two out of seven overgrown conceptuses from the ART group, but shows monoallelic expression in all tissues of the AI conceptuses. Furthermore, biallelic expression of KCNQ1OT1 is associated with loss of methylation at the KvDMR1 on the maternal allele and with downregulation of the maternally-expressed gene CDKN1C. In conclusion, our results show phenotypic and epigenetic similarities between LOS and BWS, and we propose the use of LOS as an animal model to investigate the etiology of BWS. PMID:23751783

Chen, Zhiyuan; Robbins, Katherine Marie; Wells, Kevin Dale; Rivera, Rocío Melissa

2013-01-01

348

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

PubMed Central

The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

VanderMeer, Julia E.; Ahituv, Nadav

2011-01-01

349

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

350

Baraitser and Winter syndrome with growth hormone deficiency  

PubMed Central

Baraitser–Winter syndrome (BWS), first reported in 1988, is apparently due to genetic abnormalities that are still not well-defined, although many gene abnormalities are already discovered and de novo missense changes in the cytoplasmic actin-encoding genes (called ACTB and ACTG1) have been recently discovered. The syndrome combines facial and cerebral malformations. Facial malformations totally or partially present in the same patient are: Iris coloboma, bilateral ptosis, hypertelorism, broad nasal bridge, and prominent epicanthic folds. The various brain malformations are probably responsible for growth and mental retardation. To the best of our knowledge, the syndrome is very rare as few cases have been reported so far. Our aim was to describe a child with a phenotype that looks like BWS with proved partial growth hormone (GH) deficiency which was not reported before. A girl aged 7-year-old of consanguineous parents was referred for short stature and mental retardation. Clinical examination showed dwarfism and a delay in her mental development. Other clinical features included: Strabismus, epicanthic folds, broad nasal bridge, and brain anomalies such as lissencephaly, bilateral hygroma, and cerebral atrophy. Hormonal assessment showed partial GH deficiency without other endocrine disorders. Our case looks exactly like BWS. However, apart from facial and cerebral abnormalities, there is a partial GH deficiency which can explain the harmonious short stature. This case seems worth to be reported as it adds GH deficiency to the very rare syndrome.

Chentli, Farida; Zellagui, Hadjer

2014-01-01

351

Renal coloboma syndrome  

PubMed Central

Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, frequently called optic nerve coloboma or morning glory anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst and pigmentary macular dysplasia. The kidney abnormalities consist of small and abnormally formed kidneys known as renal hypodysplasia. Histologically, kidneys exhibit fewer than the normal number of glomeruli and these glomeruli are enlarged, a finding called oligomeganephronia. Consequences of the ocular malformations include decreased visual acuity and retinal detachment. Consequences of the renal hypodysplasia include hypertension, proteinuria and renal insufficiency that frequently progresses to end-stage kidney disease. High frequency hearing loss has been reported. Autosomal dominant mutations in PAX2 can be identified in nearly half of all patients with clinical findings suggestive of RCS, however, the majority of published cases have mutations in PAX2, thus biasing the known information about the phenotype. PMID:21654726

Schimmenti, Lisa A

2011-01-01

352

Leiomyomatosis peritonealis disseminata in association with Currarino syndrome?  

PubMed Central

Background Leiomyomatosis peritonealis disseminata (LPD) is a rare disease in which multiple smooth muscle or smooth muscle-like nodules develop subperitoneally in any part of the abdominal cavity. No reports of multiple congenital malformations associated with LPD have been found in the English literature. Case presentation A 27 year-old patient referred to our gynaecology unit for pelvic pain, amenorrhoea, stress incontinence, chronic constipation and recurrent intestinal and urinary infections. Multiple congenital malformations had previously been diagnosed. Most of these had required surgical treatment in her early life: anorectal malformation with rectovestibular fistula, ectopic right ureteral orifice, megadolichoureter and hemisacrum. An ultrasound scan and computed tomography performed in our department showed an irregular, polylobate, complex 20 cm mass originating from the right pelvis that reached the right hypochondrium and the epigastrium. The patient underwent laparotomy. The three largest abdominal-pelvic masses and multiple independent nodules within the peritoneum were progressively removed. The histological diagnosis was of LPD. Conclusion The case we report is distinctive in that a rare acquired disease, LPD, coexists with multiple congenital malformations recalling a particular subgroup of caudal regression syndrome: the Currarino syndrome. PMID:16686944

Nappi, Carmine; Sardo, Attilio Di Spiezio; Mandato, Vincenzo Dario; Bifulco, Giuseppe; Merello, Elisa; Savanelli, Antonio; Mignogna, Chiara; Capra, Valeria; Guida, Maurizio

2006-01-01

353

Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan.  

PubMed

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchiogenic malformation, hearing loss and renal anomalies. The prevalence of BOR syndrome is 1/40,000 in Western countries, and nationwide surveillance in 2009-2010 identified approximately 250 BOR patients in Japan. Three causative genes for BOR syndrome have been reported thus far: EYA1, SIX1, and SIX5, but the causative genes for approximately half of all BOR patients remain unknown. This review article discusses the epidemiology, clinical symptoms, genetic background and management of BOR syndrome. PMID:24730701

Morisada, Naoya; Nozu, Kandai; Iijima, Kazumoto

2014-06-01

354

Klippel-Trenaunay Syndrome Causing Life-Threatening GI Bleeding: A Case Report and Review of the Literature  

PubMed Central

Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome of vascular malformations and soft tissue and bone hypertrophy. Vascular malformations can affect multiple organ systems. Involvement of the gastrointestinal (GI) tract is uncommon in KTS, but it can be a source of life-threatening bleeding. We report a case of a 32-year-old male with a known diagnosis of KTS who presented with a life-threatening rectal bleeding and was treated with proctosigmoidectomy and massive blood products transfusion. He expired after a long hospitalization. We then review the literature on KTS and management of some of its complications. PMID:23862081

Yungbluth, Margaret; Vainder, John A.

2013-01-01

355

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

PubMed

Kabuki syndrome is a rare malformation syndrome characterized by a typical facial appearance, skeletal anomalies, cardiac malformation, and mild to moderate intellectual disability. In 55-80% of patients with Kabuki syndrome, a mutation in MLL2 is identified. Recently, eight patients with Kabuki syndrome and a mutation in KDM6A were described. In this report, we describe two brothers with a mutation in KDM6A inherited from their mother and maternal grandmother. The two boys have Kabuki-like phenotypes whereas the mother and grandmother present with attenuated phenotypes. This family represents the first instance of hereditary X-linked Kabuki syndrome. We present a short literature review of the patients described with a mutation in KDM6A. PMID:24664873

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

2014-05-01

356

Fetal alcohol syndrome in adolescents and adults.  

PubMed

Fetal alcohol syndrome is a specific recognizable pattern of malformation. Manifestations in 61 adolescents and adults suffering from alcohol teratogenesis are presented. After puberty, the faces of patients with fetal alcohol syndrome or fetal alcohol effects were not as distinctive. Patients tended to remain short and microcephalic, although their weight was somewhat closer to the mean. The average IQ was 68, but the range of IQ scores widely varied. Average academic functioning was at the second- to fourth-grade levels, with arithmetic deficits most characteristic. Maladaptive behaviors such as poor judgment, distractibility, and difficulty perceiving social cues were common. Family environments were remarkably unstable. Fetal alcohol syndrome is not just a childhood disorder; there is a predictable long-term progression of the disorder into adulthood, in which maladaptive behaviors present the greatest challenge to management. PMID:2008025

Streissguth, A P; Aase, J M; Clarren, S K; Randels, S P; LaDue, R A; Smith, D F

1991-04-17

357

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

358

Pubertal disorders in inv dup(15) syndrome.  

PubMed

Duplication of chromosome 15 (inv dup[15] chromosome) is the most common supernumerary marker chromosome in humans. Inv dup(15) chromosomes are commonly associated with mental retardation, epilepsy, behavioral problems and structural malformations. Ten patients (4 male, 6 female) were detected with inv dup(15) syndrome. At clinical follow-up three girls showed pubertal disorders: two with central precocious puberty and one with ovarian dysgenesis. As has already been found in other patients with chromosome 15p abnormalities, we believe that gynecological disorder is an important clinical finding also in patients with inv dup(15) syndrome. We report the first data of a systematic endocrinological study on inv dup(15) syndrome which suggest that endocrine investigation in these patients is both warranted and useful. Moreover, our observations confirm that a karyotype analysis in patients in whom precocious puberty is associated with mental retardation is mandatory. PMID:11447726

Grosso, S; Balestri, P; Anichini, C; Bartalini, G; Pucci, L; Morgese, G; Berardi, R

2001-06-01

359

Giant intracerebral telangiectasia in a case of blue rubber-bleb nevus syndrome.  

PubMed

Blue rubber-bleb nevus syndrome is a rare condition that consists of multiple venous malformations involving several organ systems, mainly the skin and gastrointestinal tract. Involvement of the central nervous system is particularly rare. We describe a patient with a huge intracerebral telengiectasia revealed by a progressive neurological deficit. PMID:24256901

Sedat, J; Chau, Y; Popolo, M; Lonjon, M

2008-06-01

360

Imaging and clinical findings in large endolymphatic duct and sac syndrome  

Microsoft Academic Search

ObjectiveLarge endolymphatic duct and sac syndrome (LEDS) is known as the most common kind of inner ear malformations, which is radiologically detectable. Nevertheless, nowadays many questions are not fully cleared and LEDS is relatively unknown among general radiologists. The aim of this study was to evaluate the incidence of LEDS in the own patient population and to present our experiences

Sabrina Koesling; Christine Rasinski; Beatrice Amaya

2006-01-01

361

"One More for My Baby": Foetal Alcohol Syndrome and Its Implications for Social Workers  

ERIC Educational Resources Information Center

Foetal alcohol syndrome has been described as the commonest preventable cause of mental retardation in the Western world. It refers to a pattern of malformations, growth retardation and central nervous system impairments found in children of mothers who drink large amounts of alcohol while they are pregnant. This paper describes the nature of…

Cousins, Wendy; Wells, Karen

2005-01-01

362

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

363

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

364

Capsule endoscopy for the diagnosis and follow-up of blue rubber bleb nevus syndrome  

Microsoft Academic Search

Blue rubber bleb nevus syndrome is a rare disorder characterised by cutaneous and gastrointestinal vascular malformations.A 31-year-old man came under our observation with obscure gastrointestinal bleeding. Hemangiomas on his back and the multiple bluish vascular lesions in the distal ileum revealed by capsule endoscopy led to the diagnosis of blue rubber bleb nevus syndrome. The patient was treated with octreotide

M. De Bona; A. Bellumat; M. De Boni

2005-01-01

365

Caesarean section in a parturient with Carpenter syndrome and corrected Tetralogy of Fallot.  

PubMed

Carpenter syndrome is an extremely rare congenital disorder characterized by craniofacial malformations, syndactyly, cardiac defects and obesity. Even after surgical correction of cardiac abnormalities, intrapartum care of a parturient with this condition can be challenging because of progression of residual cardiac defects compounded by the haemodynamic changes of pregnancy. We describe the anaesthetic management for caesarean section of a parturient with Carpenter syndrome and corrected Tetralogy of Fallot. Additional complicating issues included worsening cardiac function, asthma, needle-phobia and osteoarthritis. PMID:23706836

Bhardwaj, M; Grange, C

2013-07-01

366

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

367

Y autosome translocation and complex chromosome rearrangement in cri du chat syndrome.  

PubMed Central

An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques. Images PMID:641952

Mattei, J F; Mattei, M G; Coignet, J; Giraud, F

1978-01-01

368

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

PubMed

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation. PMID:22822038

Zaki, Maha S; Saleem, Sahar N; Dobyns, William B; Barkovich, A James; Bartsch, Hauke; Dale, Anders M; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G; Grijalvo-Perez, Ana Maria

2012-08-01

369

Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment  

PubMed Central

Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics.

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

2015-01-01

370

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

PubMed Central

Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

2011-01-01

371

Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation  

PubMed Central

We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term ‘diencephalic–mesencephalic junction dysplasia’ to characterize this autosomal recessive malformation. PMID:22822038

Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

2012-01-01

372

Unusually large anterior fontanellar bone and diffuse capillary malformation with overgrowth in a three-month-old child - a computed tomography case report.  

PubMed

SUMMARY - The case presented describes the simultaneous occurrence of an unusually large anterior fontanellar bone with a syndrome of vascular malformation and overgrowth in a three-month-old child, which to our knowledge has not yet been reported. This combination may strengthen the arguments for a possible genetic contribution to the occurrence of supernumerary ossicles in the skull. Although of minor clinical importance, the shape and variations of these Wormian bones should be well-known to prevent misleading interpretations of imaging Results. PMID:25260208

Gonzalez-Reinoso, Massiel; Pimentel, Helka; Fermin-Delgado, Rafael; Stoeter, Peter

2014-10-01

373

[Iliac vessels malformations as a cause of gluteal varices].  

PubMed

Gluteal varices are caused by different malformations (congenital or other disorders) within pelvic vessels. They are usually congenital, rarely acquired disorders. The rarity of incidence, diagnostic difficulties and sometimes ineffective methods of treatment made the authors of this article to present a case of 51-year-old patient with hemorrhoids with concomitant left gluteal varices caused by internal iliac artery-vein fistula. PMID:18175563

Rudnicki, Piotr; Mazur, Ireneusz; Sosada, Krystyn; Koz?owski, Andrzej; Jopek, Janusz; Sitkiewicz, Tomasz

2007-01-01

374

Characteristics influencing informed consent on a congenital malformations registry.  

PubMed Central

Maryland law requires that all babies born with "sentinel birth defects" be reported to the State Department of Health, but mothers may deny consent for further contact. Consent was not strongly related to maternal age, race, or self-reported data on exposures, smoking, and drugs but was much less likely if the infant was dead. Selection bias in congenital malformations research may lead to underrepresentation of lethal defects, but self-reported data appear to be unbiased. PMID:3354744

Law, C; Robertson, M O; Panny, S R; Wulff, L M

1988-01-01

375

Fetal Facial Defects: Associated Malformations and Chromosomal Abnormalities  

Microsoft Academic Search

During an 8-year period, facial defects were observed in 146 (7%) of the 2,086 fetuses that underwent karyotyping in our unit because of fetal malformations and\\/or growth retardation. Chromosomal abnormalities were detected in 37 of 56 (66%) fetuses with micrognathia, in 10 of 13 (77%) with macroglossia, in 31 of 64 (48 %) with cleft lip and palate, in 5

K. H. Nicolaides; D. R. Salvesen; R. J. M. Snijders; C. M. Gosden

1993-01-01

376

An interesting finding in a congenital cystic adenomatoid malformation.  

PubMed

Here we describe a case of antenatally diagnosed congenital cystic adenomatoid malformation. Due to increasing cyst size and fetal hydrops an antenatal drain was inserted. The lesion was excised surgically soon after birth due to significant respiratory distress. During histological assessment an area of squamous metaplasia was found within the cyst wall. This developed as a result of the drain placement. At 4-year follow-up the child remains well and has experienced no long-term respiratory sequalae. PMID:23093507

Jones, Katherine Elizabeth; Teo, Ying; Lakhoo, Kokila

2012-01-01

377

Congestive hepatopathy secondary to large renal arteriovenous malformation  

PubMed Central

A 75-year-old woman presented with acute onset dyspnoea, and was found to have signs of pulmonary congestion on clinical examination. Imaging revealed cardiomegaly and coincident congestive hepatopathy, secondary to a left renal arteriovenous malformation. The presence of a high flow vascular shunt in the left kidney was possibly the causative factor behind both the high-output cardiac failure and congestive hepatopathy. PMID:23349173

Khalife, Mohammad; Faraj, Walid; Salah, Fatima; Haydar, Ali A

2013-01-01

378

Refined localization of the Prieto-syndrome locus  

SciTech Connect

PRS designates the locus for a syndromal form of X-linked mental retardation (Prieto syndrome) characterized by minor facial anomalies, ear malformation, abnormal growth of teeth, clinodactyly, sacral dimple, patellar luxation, malformation of lower limbs, abnormalities of the fundus of the eye, and subcortical cerebral atrophy. Linkage analysis localized the disease locus between DXS84 (Xp21.1) and DXS255. Here we present additional linkage data that provide further support and refinement of this localization. Individual III-18 gave birth to a male, currently aged 2 7/12 years, who clearly shows delayed psychomotor development. He began to walk at 23 months and his speech is delayed. In addition, he shows the characteristic facial anomalies, {open_quotes}dysplastic{close_quotes} ears, sacral dimple, and clinodactyly, as do all other affected males in this family. 7 refs., 1 tab.

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

1996-07-12

379

[Medication-based therapy of infantile hemangioma and lymphatic malformations].  

PubMed

The therapy of vascular tumors and malformations should be interdisciplinary and performed according to available guidelines. Infantile hemangiomas (IH) are the most frequent vascular tumors of childhood and do not require treatment in most cases. If the IH is complicated by its location (e.g. facial or genital) or if the lesion threatens to cause loss of function, small localized IH should be treated by laser- or cryotherapy. If the IH is diffuse or rapidly growing it can be successfully treated using the ? blocker propranolol. The mechanism underlying the efficacy of this medication-based therapy is not completely understood and this still represents an experimental therapy. The results of molecular studies on vascular malformations have indicated new strategies for medical therapies. However, lymphatic malformations (LM) are still treated by surgery where possible, or sclerotherapy. Further investigations are necessary to determine whether new drugs such as the mTOR inhibitor rapamycin may be effective for treatment of diffuse LM. First case reports seem to be promising. PMID:24434958

Rössler, J; Braunschweiger, F; Schill, T

2014-01-01

380

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

381

Computational modelling for the embolization of brain arteriovenous malformations.  

PubMed

Treatment of arteriovenous malformations (AVMs) of the brain often requires the injection of a liquid embolic material to reduce blood flow through the malformation. The type of the liquid and the location of injection have to be carefully planned in a pre-operative manner. We introduce a new model of the interaction of liquid embolic materials with blood for the simulation of their propagation and solidification in the AVM. Solidification is mimicked by an increase of the material's viscosity. Propagation is modelled by using the concept of two-fluids modelling and that of scalar transport. The method is tested on digital phantoms and on one anatomically derived patient AVM case. Simulations showed that intuitive behaviour of the two-fluid system can be confirmed and that two types of glue propagation through the malformation can be reproduced. Distinction between the two types of propagation could be used to identify fistulous and plexiform compartments composing the AVM and to characterize the solidification of the embolic material in them. PMID:22056793

Orlowski, Piotr; Summers, Paul; Noble, J Alison; Byrne, James; Ventikos, Yiannis

2012-09-01

382

Maternal smoking and congenital malformations: an epidemiological study.  

PubMed Central

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 increase in risk among women who reported smoking 20 or fewer cigarettes a day during pregnancy compared with those who said they had not smoked at all during pregnancy. The higher risk among moderate and heavy smokers could not be attributed to any of the potentially confounding variables considered in this study; furthermore, it was specific to smoking during pregnancy rather than before pregnancy, and increased with the average amount smoked a day. Nevertheless, because the increase in risk was modest, because response bias could exist in a study of this type, and because no other studies have examined in detail the smoking-congenital malformation hypothesis, further research is needed to determine whether the relationship between maternal smoking and congenital malformations in offspring is causal. PMID:355285

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

1978-01-01

383

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

PubMed Central

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

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

2010-01-01

384

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

385

QTc interval prolongation in children with Ulrich-Turner syndrome  

Microsoft Academic Search

Introduction  The Ullrich-Turner-Syndrome (UTS) is the most commonly occurring sex chromosome abnormality in females. Cardiac malformations are well known, but no data exist on specific electrocardiogram (ECG) patterns in children and adolescents. A prolongation of the QT interval on the ECG has been correlated to an increased risk for sudden cardiac death, and medical treatment is warranted in patients with long

Robert Dalla Pozza; Susanne Bechtold; Stefan Kääb; Matthias Buckl; Simon Urschel; Heinrich Netz; Hans-Peter Schwarz

2006-01-01

386

Unusual Clinical History of a Male Infant with Edwards Syndrome  

Microsoft Academic Search

Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well\\u000a as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can\\u000a be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias\\u000a and genital hypoplasia. We report a male patient with Edwards

Andrea Surányi; Tamás Bitó; György Vajda; László Kaiser; Gábor Gáspár; Márta Katona; János Szabó; Attila Pál

2009-01-01

387

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

388

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.  

PubMed

Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of ?-dystroglycan. They include disease entities such a Walker-Warburg syndrome, muscle-eye-brain disease and various other clinical phenotypes. Different genes involved in glycosylation of ?-dystroglycan are associated with these dystroglycanopathies. We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels. Immunhistochemistry of skeletal muscle revealed reduced glycosylated ?-dystroglycan. Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical cerebellar cysts. By whole exome sequencing, the patient was identified to be compound heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 (?-1,3-N-acetylgalactosaminyltransferase 2; B3GalNAc-T2). This patient showed a milder phenotype than previously described patients with mutations in the B3GALNT2 gene. PMID:24084573

Hedberg, Carola; Oldfors, Anders; Darin, Niklas

2014-05-01

389

From malformations to molecular mechanisms in the male: three decades of research on endocrine disrupters.  

PubMed

For three decades, we have known that estrogens alter the development of the mammalian reproductive system in predictable ways. In mice exposed prenatally to diethylstilbestrol (DES) or other estrogens, the male offspring exhibit structural malformations including cryptorchidism, epididymal cysts and retained Mullerian ducts. The estrogen-associated alterations in the genital tract phenotype can be usefully considered as a model called Developmental Estrogenization Syndrome. While estrogen treatment during critical periods of morphogenesis of the male reproductive system has been associated with these changes, the mechanisms at the molecular level are still being discovered. Parallel findings on the hormones involved in Mullerian duct regression and testicular descent have helped guide research on the mechanisms of developmental estrogenization of the male. Cellular localization of molecular signals associated with key steps in genital tract development, use of mice with gene disruption, and knowledge of the mechanisms underlying persistent changes in gene expression are beginning to provide a blue print for both the physiological role and pathological effects of estrogens in reproductive tract development. Since many of the same biological principles underlie genital tract morphogenesis in mammals, one may expect some of the same changes in males of other species exposed to estrogen during the appropriate developmental periods. PMID:11469497

McLachlan, J A; Newbold, R R; Burow, M E; Li, S F

2001-04-01

390

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

391

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

392

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

393

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

394

A large pelvic arteriovenous malformation in an adult patient with cystic fibrosis.  

PubMed

We present a prepubertal male cystic fibrosis patient with high circulating oestrogen levels (as a consequence of sever cystic-fibrosis-related hepatobiliary disease) who subsequently developed a large pelvic arteriovenous malformation. This has not previously been described in patients with cystic fibrosis, despite the association between high oestrogen levels and arteriovenous malformations. The aetiology and treatment options of arteriovenous malformations are discussed. PMID:10435171

Ledson, M J; Wahbi, Z; Harris, P; Walshaw, M J

1999-06-01

395

Primary intra osseous venous malformation of nasal bone: A rare case report  

PubMed Central

Primary intra osseous venous malformation with involvement of nasal bone is a rare phenomenon. Nasal bone intraosseous venous malformation on a back ground of port wine stain of face has not been reported in the available literature. We report the very rare case of intraosseous venous malformation of left nasal bone developing on a background of port wine stain of face, its diagnosis, pathology, management and review of literature.

Pati, Ajit Kumar; Nayak, Bibhuti Bhusan; Choudhury, Arun Kumar; Rout, Debesh Kumar

2014-01-01

396

Short rib-polydactyly syndrome, Majewski type.  

PubMed

A term infant had dwarfism with characteristic skeletal and extraskeletal changes of the short rib-polydactyly syndrome type 2 (Majewski). The skeletal changes included extremely short horizontal ribs, extreme micromelia with disproportionately short ovoid tibiae, and pre- and post-axial polydactyly. Microscopically, cartilage showed markedly stunted and disorganized endochondral ossification. Extraskeletal manifestations were hydrops, cleft lip, malformed larynx with hypoplastic epiglottis, pulmonary hypoplasia, glomerular and renal tubular cysts, ambiguous genitalia, pachygyria and small cerebellar vermis. Parental consanguinity supports the hypothesis of autosomal recessive inheritance of the condition. PMID:7468649

Chen, H; Yang, S S; Gonzalez, E; Fowler, M; Al Saadi, A

1980-01-01

397

Learning about Down Syndrome  

MedlinePLUS

... genetic terms used on this page Learning About Down Syndrome What is Down syndrome? What are the symptoms ... syndrome Additional Resources for Down Syndrome What is Down syndrome? Down syndrome is a chromosomal condition related to ...

398

Double trisomy (48,XXX,+18) with features of Roberts syndrome  

SciTech Connect

We report an infant with double trisomy 48,XXX,+18, who also displayed features of Roberts syndrome. All previously published cases with similar double trisomy have presented with features of trisomy 18 syndrome. The chromosome analysis done at birth revealed the double trisomy; parental chromosomes were normal. The proband presented with microbrachycephaly, unilateral cleft lip and palate, choanal atresia, midfacial capillary hemanioma, thin nares, shallow orbits, malformed ears, sparse hair, hypomelia of the upper limbs, rocker-bottom feet, auricular septal defect and agenesis of the corpus callosum. Characteristic features of Roberts syndrome included hypomelia, midfacial defects, and severe growth deficiency. Among the many different features reported in the literature for patients with trisomy 18 syndrome, the most consistent were growth deficiency, clenched fingers and congenital heart defects (e.g. VSD, ASD, PDA). Although some of our patient`s features such as cleft lip and cleft palate, low-set malformed ears, ASD, defects of the corpus callosum, choanal atresia, radial aplasia could also be seen in trisomy 18 syndrome (in 10-50% of the cases), her phenotype was more typical of Roberts syndrome because of symmetrical hypomelia and midfacial defects. Our patient`s chromosomes did not show premature separation of centromeric heterochromatin, a feature reported to occur in approximately one-half of individuals with Roberts syndrome. Sporadic aneuploidy involving different chromosomes has been found in lymphocyte cultures from some Roberts syndrome patients and is considered by some authors as a mitotic mutant. This aneuploidy is most likely to be chromosome gain. The simultaneous occurrence of trisomy X and 18 is extremely rare with only 11 cases having been reported in the literature. Our patient is unique since she has the double trisomy in addition to the characteristic features of Roberts syndrome.

Descartes, M.; Longshore, J.W.; Crawford, E. [Univ. of Alabama, Birmingham, AL (United States)] [and others

1994-09-01

399

Aicardi Syndrome  

MedlinePLUS

... males normally have an X and a Y chromosome.) The precise gene or genetic mechanism causing Aicardi syndrome is not yet known. Originally, Aicardi syndrome was characterized by three main features: 1) partial or complete absence of ...

400

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. ...

401

Marfan Syndrome  

MedlinePLUS

... syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It ... and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, ...

402

Down Syndrome  

MedlinePLUS

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

403

Turner Syndrome  

MedlinePLUS

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete ... t work properly. Other physical features typical of Turner syndrome are Short, "webbed" neck with folds of skin ...

404

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 ...

405

[Styloid syndrome; Sluder's syndrome; Charlin's syndrome].  

PubMed

The styloid syndrome is caused by an irritation of the glossopharyngeal nerve from an excessive development of the styloid apophysis. Treatment consists of the resection of the same. The Sluder syndrome represents a nevralgy with origin in the sphenopalatine ganglion and a dysfunction of the parasympathetic system. The Charlin syndrome, much less frequent, manifests itself by pains in the territory of the nasociliar nerve and the ciliar ganglion. PMID:293019

Strupler, W

1979-02-01

406

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.  

PubMed

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes. PMID:24722273

Shah, Bhavin M; Dada, Tanuj; Panda, Anita; Tanwar, Mukesh; Bhartiya, Shibal; Dada, Rima

2014-03-01

407

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.  

PubMed

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld-Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes. PMID:24212221

Shah, Bhavin M; Dada, Tanuj; Panda, Anita; Tanwar, Mukesh; Bhartiya, Shibal; Dada, Rima

2013-11-11

408

Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome  

PubMed Central

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld–Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged-helix/forked transcription factors (FOX) involved in a variety of developmental processes. PMID:24722273

Shah, Bhavin M; Dada, Tanuj; Panda, Anita; Tanwar, Mukesh; Bhartiya, Shibal; Dada, Rima

2014-01-01

409

48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome  

PubMed Central

Sex chromosome tetrasomy and pentasomy conditions occur in 1:18 000–1:100 000 male births. While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations, medical problems and psychological features. While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. Future research should focus on genotype–phenotype relationships and the development of evidence-based treatments. Conclusion The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important; however, all of these conditions share features of hypergonadotropic hypogonadism and the need for increased awareness, biomedical research and the development of evidence-based treatments. PMID:21342258

Tartaglia, Nicole; Ayari, Natalie; Howell, Susan; D’Epagnier, Cheryl; Zeitler, Philip

2012-01-01

410

Nephrotic syndrome.  

PubMed

Nephrotic syndrome refers to excessive proteinuria, with associated hypoalbuminemia, edema, and hyperlipidemia. A diverse spectrum of disorders has been associated with nephrotic syndrome and related neurologic complications, although the relative infrequency of these cases limits conclusive associations. Neurologic manifestations of nephrotic syndrome may result from hypoproteinemia, hypercoagulability, hyperlipidemia, hypertension, amyloid deposition, hormonal changes, or electrolyte disorders. Neurologic diagnosis hinges on prompt recognition of this syndrome and rational therapeutic strategies are aimed at the underlying systemic disorder. PMID:24365309

Liebeskind, David S

2014-01-01

411

HELLP syndrome  

MedlinePLUS

HELLP syndrome is a group of symptoms that occur in pregnant women who have: H -- hemolysis (the breakdown ... The cause of HELLP syndrome has not been found. HELLP syndrome occurs in about 1 to 2 out of 1,000 pregnancies, and in ...

412

Down syndrome  

MedlinePLUS

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

413

Usher Syndrome  

MedlinePLUS

Home Health Info Hearing, Ear Infections, and Deafness Usher Syndrome Usher Syndrome On this page What is Usher syndrome? Who is affected by Usher ... legally blind. Type 1 Type 2 Type 3 Hearing Profound deafness in both ears from birth Moderate to severe hearing loss from ...

414

Rowell syndrome  

PubMed Central

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

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

2014-01-01

415

Metabolic Syndrome  

MedlinePLUS

... to occur together. You must have at least three metabolic risk factors to be diagnosed with metabolic syndrome. A large ... syndrome may overtake smoking as the leading risk factor for heart disease. It is possible to prevent or ... Metabolic Syndrome Clinical Trials Clinical trials are ...

416

Velocardiofacial Syndrome  

ERIC Educational Resources Information Center

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

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

2009-01-01

417

Rowell syndrome.  

PubMed

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

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

2014-11-01

418

Biamnial alpha fetoprotein concentration in twins, one with multiple malformations.  

PubMed Central

In the 18th week of pregnancy in a 22 year old patient, twins were diagnosed by ultrasound. It was found that one twin had an abnormal skull outline and an echo-free area covered by a thin membrane in the region of the abdomen. The second embryo showed no sign of malformation. Amniocentesis was performed and the AFP in both samples of amniotic fluid were in the pathological range. Our own observations with indirect immunofluorescence confirmed that one twin with defects leading to abnormally high AFP levels can cause pathological AFP levels in the amniotic sac of a healthy twin. Images PMID:6209397

Huber, J; Wagenbichler, P; Bartsch, F

1984-01-01

419

Sonohysterography is a useful diagnostic approach for uterine arteriovenous malformation.  

PubMed

Uterine arteriovenous malformation (AVM) is a rare cause of abnormal uterine bleeding; nevertheless, it is a potentially life-threatening condition when the diagnosis is not made. We report a case of uterine AVM with a secondary uterine hematoma diagnosed 2 weeks after curettage due to spontaneous abortion. Ultrasound examination revealed a mixed echogenic mass of approximately 4 cm × 1.5 cm with no blood flow and an additional contiguous heterogeneous mass with turbulent blood flow depicted by color Doppler. Transvaginal sonohysterography enabled us to exclude residual chorionic tissues and to make precise diagnosis of uterine AVM with a secondary hematoma. PMID:24888955

Mishina, Miyuki; Hasegawa, Junichi; Nakamura, Masamitsu; Ichizuka, Kiyotake; Sekizawa, Akihiko; Okai, Takashi

2014-06-01

420

An Unusual Left Upper Quadrant Mass: A Bronchopulmonary Foregut Malformation  

PubMed Central

We report a case of a lady who presented with epigastric discomfort. Physical examination revealed a large left upper quadrant mass filling the left upper quadrant. Following extensive preoperative evaluation, she underwent resection of this 9 × 10 × 11 centimeter mass with en bloc excision of a portion of the left hemidiaphragm. She made an uneventful postoperative recovery. Histopathology revealed a bronchopulmonary foregut malformation with pulmonary sequestration. This developmental anomaly of the foregut typically occurs in the thoracic cavity; however, it can occur below the diaphragm. Herein we report a case and a detailed review of the embryology, clinical features, and management of these extremely rare clinical entities. PMID:23533917

McDermott, R. L.; Kavanagh, D. O.; Bartosik, W.; Quinn, C.; O'Connell, P. R.

2013-01-01

421

Pediatric postcricoid vascular malformation: a diagnostic and treatment challenge.  

PubMed

Hemangioma of the upper aerodigestive tract is a rarely reported occurrence in the pediatric literature. To date, there have been three published case reports of postcricoid hemangiomas contributing to unexplained dysphagia and respiratory distress. We present three children with a history of swallowing difficulty and stridor who were found to have an occult postcricoid mass. Valsalva maneuvers confirmed the suspicion of a vascular malformation in both patients. Transoral laser therapy (KTP and CO2) was used to ablate the lesions. The patients are symptom-free at 5 months, 5 years, and 2 weeks, respectively. The diagnostic challenge in evaluating these children and the therapeutic choices are described. PMID:15961166

Zur, Karen B; Wood, Robert E; Elluru, Ravindhra G

2005-12-01

422

[Anesthetic management of a neonate with congenital cystic adenomatoid malformation].  

PubMed

We report the anesthetic management of a female neonate with congenital cyst adenoid malformation (CCAM) type III of the lung who underwent the lower right lobe resection 22 days after birth. General anesthesia was induced with propofol and rocuronium. The trachea was intubated with a 3.0 standard tube. Anesthesia was maintained with sevoflurane in an air/oxygen mixture and fentanyl. Intraoperative anesthetic course was uneventful except transient desaturation during lung compression. Immediately, the saturation was restored by interruption of lung compression. One lung ventilation was not necessary in this operation. Postoperative course was uneventful. Patient was discharged home on the 28th postoperative day. PMID:24558943

Tominaga, Hiroki; Hatori, Eiki; Takeda, Junzo; Morisaki, Hiroshi

2014-01-01

423

[Some features of the nose in craniofacial malformations].  

PubMed

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

Arnaud, E

2014-12-01

424

Management of antenatally diagnosed pulmonary sequestration associated with congenital cystic adenomatoid malformation  

PubMed Central

BACKGROUND—Sequestration with associated cystic adenomatoid malformation is rare. A study was undertaken to determine whether pulmonary sequestration associated with congenital cystic adenomatoid malformation has a more favourable natural history than that of sequestration without associated cystic adenomatoid malformation.?METHODS—An outline of the postnatal work up leading to the management of extralobar or intralobar pulmonary sequestration with congenital cystic adenomatoid malformation diagnosed antenatally as pulmonary malformation is presented and the indications for surgical intervention are discussed.?RESULTS—In five infants in whom an antenatal ultrasound scan had detected a congenital lung malformation at 18-19 weeks gestation a final diagnosis of extralobar or intralobar pulmonary sequestration with congenital cystic adenomatoid malformation was made postnatally. Postnatal ultrasound and computerised axial tomographic scans confirmed the diagnosis of sequestration by delineating anomalous vascular supply. Cystic changes were also observed in the basal area of the sequestration in all patients. Four children remained asymptomatic and one infant presented at 10 months of age with pneumonia. The mean age at surgical resection was 6.8 months (range 2-10). Histopathological examination confirmed intralobar pulmonary sequestration with associated Stocker type 2 congenital cystic adenomatoid malformation in two patients and extralobar pulmonary sequestration with associated Stocker type 2 congenital cystic adenomatoid malformation in three patients. The mean period of follow up was four years (range 1-8). The children remain well and are developing normally.?CONCLUSIONS—The importance of seeking an anomalous blood supply in children with congenital lung lesions is emphasised. Pulmonary sequestration and congenital cystic adenomatoid malformation probably share a common embryogenesis despite diverse morphology. The natural history of antenatally diagnosed lung masses is variable. Early postnatal surgical resection of pulmonary sequestration with cystic adenomatoid malformation is recommended. Surgical excision should be conservative, sparing the normal lung parenchyma.?? PMID:10413723

Samuel, M.; Burge, D.

1999-01-01

425

[A case of Edwards' syndrome in pregnancy complicated by serologic incompatibility and preeclampsia].  

PubMed

A case of Edwards' syndrome (trisomy 18) diagnosed in the third pregnancy trimester is described. The diagnosis was based on sonographic examination and cytogenetic amniocentesis. Lethal genetic fetal malformation determined the medical indication to preterm delivery. Additionally, serologic incompatibility during pregnancy was observed, as well as pregnancy induced hypertension turning into preeclampsia after the labour action was evoked. A caesarean section due to obstetric indications was done. Phenotype and lethal congenital malformations in the newborn have confirmed of the chromosome aberration prenatally diagnosed. PMID:17373122

Murawski, Marek; Grybo?, Marian; Zalewska, Dominika; Symonowicz, Krzysztof

2006-12-01

426

Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant.  

PubMed

Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic syndromes even if the etiology is still unknown. We present an original case sharing characteristics common to PBS, MMIH, and OEIS complex, without a clear inclination toward any particular one. This case hints toward a common pathway in the creation of the 3 syndromes. We hypothesize that they are a spectrum of malformations based on the time frame when the mesoderm fails to create a normal interaction between infraumbilical mesoderm, urorectal septum, lumbosacral somites in the formation of the abdominal wall and the genitourinary and lower gastrointestinal tracts. PMID:21034928

Giuliani, Stefano; Vendryes, Christopher; Malhotra, Ajay; Shaul, Donald B; Anselmo, Dean M

2010-11-01

427

Refeeding syndrome.  

PubMed

Refeeding syndrome is a complex syndrome that occurs as a result of reintroducing nutrition (oral, enteral or parenteral) to patients who are starved or malnourished. Patients can develop fluid-balance abnormalities, electrolyte disorders (hypophosphataemia, hypokalaemia and hypomagnesaemia), abnormal glucose metabolism and certain vitamin deficiencies. Refeeding syndrome encompasses abnormalities affecting multiple organ systems, including neurological, pulmonary, cardiac, neuromuscular and haematological functions. Pathogenic mechanisms involved in the refeeding syndrome and clinical manifestations have been reviewed. We provide suggestions for the prevention and treatment of refeeding syndrome. The most important steps are to identify patients at risk, reintroduce nutrition cautiously and correct electrolyte and vitamin deficiencies properly. PMID:19712606

Fernández López, M T; López Otero, M J; Alvarez Vázquez, P; Arias Delgado, J; Varela Correa, J J

2009-01-01

428

[Bartter's syndrome].  

PubMed

Bartter syndrome is an uncommon tubular disorder inherited as an autosomal recessive entity. It is associated with hypokalemic metabolic alkalosis with high renin and aldosterone plasma concentration with low or normal blood pressure. Recent studies have demonstrated genetic heterogeneity in Bartter syndrome. Mutations of two genes encoding the Na/K/2Cl cotransporter and potassium channel ROMK are responsible for clinical features of neonatal Bartter syndrome. Mutations of gen encoding the chloride channel ClC-Kb is identified as being causative for the classic Bartter syndrome. And dysfunction of Na/Cl cotransporter in the distal convoluted renal tubule is described as Gitelman syndrome. PMID:15518434

Daniluk, Urszula; Kaczmarski, Maciej; Wasilewska, Jolanta; Matuszewska, Elzbieta; Semeniuk, Janusz; Sidor, Katarzyna; Krasnow, Aleksander

2004-05-01

429

Dandy-Walker variant in Coffin-Siris syndrome.  

PubMed

We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain. PMID:11298377

Imai, T; Hattori, H; Miyazaki, M; Higuchi, Y; Adachi, S; Nakahata, T

2001-04-22

430

Adult-onset bulbar ptosis in Joubert syndrome.  

PubMed

In this case report, we describe a case of adult-onset bulbar ptosis in a patient with Joubert syndrome. Joubert syndrome is a rare neurodevelopmental disorder with malformations in cerebellum and brainstem. Many ocular abnormalities have been noted in Joubert syndrome, but the association of this syndrome with adult-onset ptosis has not been described to date. This 24-year-old Joubert patient developed a cerebrospinal fluid cyst in her midbrain. She had signs of bilateral third nerve palsy and abducens palsy in the left eye. The bilateral central third nerve palsy causing functional blindness secondary to severe bilateral levator palsy was treated successfully with silicone sling frontalis suspension, as the seventh nerve nucleus was not involved. PMID:22291457

Burt, Benjamin; Levine, Johanan; Le, Kim

2012-01-01

431

Oral manifestations associated with systemic complications of prune belly syndrome.  

PubMed

Prune belly syndrome (PBS) is a rare congenital malformation of unknown etiology characterized by congenital abnormalities including abdominal wall flaccidity, urinary tract alterations, and bilateral cryptorchidism. The incidence of the syndrome is between 1/35000 and 1/50000 live births and there is little information about the oral findings. The present case describes the oral manifestations of a 15-year-old boy diagnosed with PBS. The findings include enamel hypoplasia associated with generalized hypocalcemic dental lines. In the radiographic exam, pronounced demineralization of the trabecular bone of the jaws, loss of lamina dura in all the teeth, and discontinuity of the mandibular cortical bone were observed. Prune belly syndrome is a rare disease, whose clinical dental aspects are not pathognomonic of the syndrome. The comprehension of the systemic mechanism of PBS and its comorbidities enable an understanding of the systemic etiologic factors associated with oral manifestations. PMID:22901648

Pessoa, Larissa; Galvão, Virgilio

2013-01-01

432

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

PubMed

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

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

2013-01-01

433

A new approach to blue rubber bleb nevus syndrome: the role of capsule endoscopy and intra-operative enteroscopy  

Microsoft Academic Search

Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently\\u000a associated with serious, even fatal bleeding and anemia. The syndrome is considered to be autosomaly predominantly inherited.\\u000a Intra-operative enteroscopy (IOE) is the best method of identification of all lesions (particularly the small ones, less than\\u000a 3 mm) and treatment by endoscopic electro-coagulation or

Marcela Kopá?ová; Ilja Tachecí; Jaroslav Koudelka; Miroslava Králová; Stanislav Rejchrt; Jan Bureš

2007-01-01

434

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

PubMed Central

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

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

2009-01-01

435

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

EPA Science Inventory

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

436

ADDING INFECTION TO INJURY: SYNERGISTIC EFFECTS OF PREDATION AND PARASITISM ON AMPHIBIAN MALFORMATIONS  

Microsoft Academic Search

We explored the importance of interactions between parasite infection and predation in driving an emerging phenomenon of conservation importance: amphibian limb malformations. We suggest that injury resulting from intraspecific predation in combination with trematode infection contributes to the frequency and severity of malformations in salamanders. By integrating field surveys and experiments, we evaluated the individual and combined effects of conspecific

Pieter T. J. Johnson; Eric R. Preu; Daniel R. Sutherland; John M. Romansic; Barbara Han; Andrew R. Blaustein

2006-01-01

437

Presentation and Management of Hydromyelia in Children with Chiari Type-II Malformation  

Microsoft Academic Search

Hydromyelia in patients with myelomeningocele and Chiari-II malformation is a relatively frequent finding on MRI studies. However, not all children develop symptoms from the hydromyelia that requires treatment. Furthermore, treatment of hydromyelia in spina bifida patients is rather complex due to the associated malformations. The authors retrospectively analyzed 231 MRI studies carried out on spina bifida patients who presented neurological

Frank La Marca; Martin Herman; John A. Grant; David G. McLone

1997-01-01

438

MALFORMATION, MORTALITY AND PARASITES IN NORTHERN LEOPARD FROGS IN MN AND ND.  

Technology Transfer Automated Retrieval System (TEKTRAN)

In 2000 a field study compared the relative incidence of mortality and malformation of developing northern leopard frogs (Rana pipiens) at two Minnesota (MN)lake sites, one site with history of high incidence of malformations (CWB)and one with low incidence (BUT). Tadpoles were reared in enclosures ...

439

MALFORMATION VERSUS MORTALITY, A STUDY OF NORTHERN LEOPARD FROG DEVELOPMENT IN SITU.  

Technology Transfer Automated Retrieval System (TEKTRAN)

Field studies were designed to compare the relative incidence of mortality and malformation of developing northern leopard frogs (Rana pipiens) at two Minnesota (MN)Lake sites. Site selection was based on survey data that indicated one site had a high incidence of malformations (CWB) versus low inci...

440

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

Microsoft Academic Search

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

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

1992-01-01

441

Uterine arteriovenous malformation successfully embolized with a liquid polymer, isobutyl 2-cyanoacrylate.  

PubMed

A uterine arteriovenous malformation was diagnosed angiographically in a 27-year-old woman presenting with recurrent menometrorrhagia. Bilateral hypogastric artery embolization with a liquid polymer, isobutyl 2-cyanoacrylate (Bucrylate), resulted in subsequent normal menses. Bucrylate offers a number of advantages over other agents previously used to embolize uterine arteriovenous malformations. PMID:3752185

Markoff, G; Quagliarello, J; Rosen, R J; Beckman, E M

1986-09-01

442

Embolization of intracranial arteriovenous malformations and fistulas with polyvinyl alcohol particles and platinum fibre coils  

Microsoft Academic Search

In order to reduce the recanalization rate of arteriovenous malformations and multiple dural arteriovenous fistulas, embolization was carried out with polyvinyl alcohol (PVA) particles combined with platinum fibre coils in 20 patients. The malformation was occluded more effectively than by PVA alone. Distal deposition of the emboli was obtained by improved steerable catheters (Tracker-18-unibody) and guidewires. The complication rate was

P. H. Nakstad; S. J. Bakke; J. K. Hald

1992-01-01

443

Mediastinal venous vascular malformations: report of two cases, with discussion of imaging findings and classification systems.  

PubMed

Mediastinal vascular malformations are interesting group of disorders, which are rarely seen in clinical practice. In this case report, we discuss two cases of venous vascular malformations in the anterior and posterior mediastinum. Also, we discuss the findings on cross-sectional imaging and review the classification schemes of these lesions. PMID:24393540

Robert, Andres; Raymond, Daniel; Bolen, Michael; Renapurkar, Rahul

2014-01-01

444

Congenital malformations after the use of inhaled budesonide in early pregnancy  

Microsoft Academic Search

Objective: To study possible teratogenic risks with the use of an inhaled glucocorticoid, budesonide, in early pregnancy.Methods: Using the Swedish Medical Birth Registry, congenital malformations were studied in 2014 infants whose mothers had used inhaled budesonide for asthma in early pregnancy. The presence of congenital malformations was checked further with auxilliary registries.Results: No increase in the general rate of congenital

Bengt Källén; Hakan Rydhstroem; Anders Åberg

1999-01-01

445

The diagnostic yield of rescreening for arteriovenous malformations in children with hereditary hemorrhagic telangiectasia.  

PubMed

The diagnostic yield of rescreening children with hereditary hemorrhagic telangiectasia at regular intervals for arteriovenous malformations is unclear. Here, we show that when children with initially negative screening were reassessed after 5 years, no new arteriovenous malformations were detected suggesting that longer intervals between screenings may be adequate. PMID:24797954

Latino, Giuseppe A; Al-Saleh, Suhail; Carpenter, Susan; Ratjen, Felix

2014-07-01

446

Walker-Warburg syndrome  

PubMed Central

Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying before the age of three years. WWS presents at birth with generalized hypotonia, muscle weakness, developmental delay with mental retardation and occasional seizures. It is associated with type II cobblestone lissencephaly, hydrocephalus, cerebellar malformations, eye abnormalities and congenital muscular dystrophy characterized by hypoglycosylation of ?-dystroglycan. Several genes have been implicated in the etiology of WWS, and others are as yet unknown. Several mutations were found in the Protein O-Mannosyltransferase 1 and 2 (POMT1 and POMT2) genes, and one mutation was found in each of the fukutin and fukutin-related protein (FKRP) genes. Laboratory investigations usually show elevated creatine kinase, myopathic/dystrophic muscle pathology and altered ?-dystroglycan. Antenatal diagnosis is possible in families with known mutations. Prenatal ultrasound may be helpful for diagnosis in families where the molecular defect is unknown. No specific treatment is available. Management is only supportive and preventive. PMID:16887026

Vajsar, Jiri; Schachter, Harry

2006-01-01

447

Chiari malformation type I: a neuropsychological case study.  

PubMed

Chiari Malformation type I (CM-I) is a congenital anomaly that occurs when the cerebellar tonsils protrude through the foramen magnum. Individuals with this condition are typically asymptomatic and the identification of the malformation is usually an incidental finding during the course of treating another disorder. This case study explores the neuropsychological sequelae of two unique cases of CM-I in combat veterans. Neuropsychological evaluation revealed that both patients demonstrated preserved general cognitive functioning but had varying patterns of performance on measures of visuospatial, executive functioning, and processing speed. In terms of affective functioning, both endorsed significant depressive symptomatology, but had varying patterns of severity on other estimates of psychiatric symptomatology. Overall, results suggest that there is not one pattern of cognitive and affective functioning associated with CM-I and that environmental and psychological rather than neurological factors should be considered when evaluating cognitive and affective functioning. These cases also highlight the need for neuropsychological evaluation in CM-I in terms of providing guidance for psychoeducation and psychotherapy. PMID:24902143

Klein, Robert; Hopewell, C Alan; Oien, Michael

2014-06-01

448

Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations  

PubMed Central

Inherited vascular malformations are commonly autosomal dominantly inherited with high, but incomplete, penetrance; they often present as multiple lesions. We hypothesized that Knudson’s two-hit model could explain this multifocality and partial penetrance. We performed a systematic analysis of inherited glomuvenous malformations (GVMs) by using multiple approaches, including a sensitive allele-specific pairwise SNP-chip method. Overall, we identified 16 somatic mutations, most of which were not intragenic but were cases of acquired uniparental isodisomy (aUPID) involving chromosome 1p. The breakpoint of each aUPID is located in an A- and T-rich, high-DNA-flexibility region (1p13.1–1p12). This region corresponds to a possible new fragile site. Occurrences of these mutations render the inherited glomulin variant in 1p22.1 homozygous in the affected tissues without loss of genetic material. This finding demonstrates that a double hit is needed to trigger formation of a GVM. It also suggests that somatic UPID, only detectable by sensitive pairwise analysis in heterogeneous tissues, might be a common phenomenon in human cells. Thus, aUPID might play a role in the pathogenesis of various nonmalignant disorders and might explain local impaired function and/or clinical variability. Furthermore, these data suggest that pairwise analysis of blood and tissue, even on heterogeneous tissue, can be used for localizing double-hit mutations in disease-causing genes. PMID:23375657

Amyere, Mustapha; Aerts, Virginie; Brouillard, Pascal; McIntyre, Brendan A.S.; Duhoux, François P.; Wassef, Michel; Enjolras, Odile; Mulliken, John B.; Devuyst, Olivier; Antoine-Poirel, Hélène; Boon, Laurence M.; Vikkula, Miikka

2013-01-01

449

Cardiovascular malformations and organic solvent exposure during pregnancy in Finland  

SciTech Connect

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

Tikkanen, J.; Heinonen, O.P.

1988-01-01

450

CHARGE association in Sweden: malformations and functional deficits.  

PubMed

CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. PMID:15633180

Strömland, Kerstin; Sjögreen, Lotta; Johansson, Maria; Ekman Joelsson, Britt-Marie; Miller, Marilyn; Danielsson, Susanna; Billstedt, Eva; Gillberg, Christopher; Jacobsson, Catharina; Norinder, Jan Andersson; Granström, Gösta

2005-03-15

451

Antenatal and postnatal management of congenital cystic adenomatoid malformation.  

PubMed

Congenital thoracic malformations (CTMs) are a heterogeneous group of rare disorders that may involve the airways or lung parenchyma. The authors have focused on the condition that causes the most controversy, namely, congenital cystic adenomatoid malformation (CCAM). The reported incidence is 3.5 and 0.94 per 10,000 live births for CTMs and CCAMs respectively. Ultrasound is the antenatal imaging modality of choice for screening for CCAMs whilst magnetic resonance imaging is complimentary for morphological and volumetric evaluation of the foetal lung. Most CCAMs are detected antenatally with only a small proportion presenting postnatally. Only a few CCAMs cause foetal problems, with foetal hydrops being the best predictor of death. Although many CCAMs regress during pregnancy, most remain detectable postnatally by CT scans. Surgical excision of symptomatic lesions is relatively straightforward, but management of asymptomatic lesions is controversial. Some surgeons adopt a "wait and see" approach operating only on those patients who develop symptoms, but others operate on asymptomatic patients usually within the first year of life. Due to the potential of malignant transformation, children should have long term follow up. There is an urgent need to delineate the natural history of antenatally detected CCAMs to guide future management. PMID:22726873

Kotecha, S; Barbato, A; Bush, A; Claus, F; Davenport, M; Delacourt, C; Deprest, J; Eber, E; Frenckner, B; Greenough, A; Nicholson, A G; Antón-Pacheco, J L; Midulla, F

2012-09-01

452

Chronic Encapsulated Intracerebral Hematoma Associated with Cavernous Malformation  

PubMed Central

Chronic encapsulated intracerebral hematoma (CEIH) is a rare cerebrovascular disease that behaves as a slowly expanding lesion with a gradual onset. It is well established that CEIH is associated with arteriovenous malformations; however, CEIH associated with cavernous malformation (CM) is extremely rare. We herein report a case of CEIH associated with CM, and discuss its pathogenesis. A 12-year-old female was admitted to our hospital because of a one week history of progressive headache and nausea. Brain computed tomography scan and magnetic resonance imaging showed an intracerebral hematoma surrounded by edema in the right frontal lobe. One week later, her headache and nausea worsened, and a brain computed tomography scan revealed the enlargement of hematoma. A right frontal craniotomy was performed. The capsule, mass, and hematoma were totally removed. Histological examination confirmed the diagnosis of CEIH associated with CM. Immunohistochemical analysis revealed increased expression of vascular endothelial growth factor (VEGF) and the VEGF receptor-1 in the endothelium and fibroblasts. Our findings suggest that the activated VEGF pathway might have positively contributed to development of CEIH in the present patient. PMID:24653802

Wada, Kojiro; Sakakibara, Fumihiro; Mori, Kentaro

2014-01-01

453

A tortuous proximal urethra in urorectal septum malformation sequence?  

PubMed

We observed a newborn boy with urorectal septum malformation sequence. Anomalies of the genitalia and rectum were present. He expired on the first day of life, due to severe lung hypoplasia. Autopsy showed a colon that ended in a blind sac, an enlarged bladder with no grossly visible urethra, and dysplastic kidneys. A cone-shaped tissue at the usual site of the bladder outlet contained tortuous and slit-like lumina, suggesting an undeveloped proximal urethra. The urethral structure was lined by transitional epithelium with squamous metaplasia. Many small buds-lined with columnar epithelium-branched from the urethral structure. These ductal buds lined with columnar epithelium stained for prostatic acid phosphatase. Basal cells surrounding the ductal buds stained for p63 and high molecular weight cytokeratin-supporting an interpretation that the buds were early prostatic ducts with normal histology. To our knowledge, these are the first histological images of an undeveloped, obstructed urethra associated with the urorectal septum malformation sequence. PMID:24665006

Lin, Henry J; Lugo, Hector; Tran, Thu; Tovar, Jason P; Corral, Julia; Zork, Noelia M; Smith, Lynne M; French, Samuel W; Barajas, Luciano

2014-05-01

454

A very rare entity of diabetes insipidus associated with Edwards syndrome.  

PubMed

Edwards syndrome is the second most commonly seen trisomy. It was first described by John Hamilton Edwards in 1960. Although most cases result in termination or foetal loss, live births have been documented in 5%. Edwards syndrome is characterized by multisystem anomalies, of which holoprosencephaly (HPE) is observed in 4-8% of cases. The clinical findings correspond to the degree of HPE malformation. Convulsions and endocrinopathies are among the severe clinical findings. The most common endocrinopathies are central diabetes insipidus (DI), hypothyroidism, hypocortisolism and growth hormone deficiency. The coexistence of holoproencephaly and DI in Edwards syndrome was discussed under the light of literature. PMID:24074370

Demir, Nihat; Do?an, Murat; Peker, Erdal; Bulan, Keziban; Tuncer, O?uz

2013-08-01

455

Pituitary gland and axial skeletal malformations in human fetuses with spina bifida.  

PubMed

The purpose of the present study was to describe the pituitary gland and axial skeleton, including the sella turcica, in human fetuses with spina bifida. Ten fetuses with gestational ages (GA) 15 1/2-28 weeks were investigated radiographically (Faxitron X-ray apparatus) and immunohistochemically. Four of the fetuses have been described previously. The study showed that nine fetuses had minor or no skeletal abnormalities in the vertebral bodies of the spine, and one fetus had severely malformed vertebral bodies. In all cases the sella turcica and the pituitary gland were malformed. Adenopituitary tissue was in all cases located in both the sella turcica and the pharyngeal submucosa. The most severe sella turcica/pituitary gland malformation was seen in the fetus with the malformed spine. The connection between the prenatally registered sella turcica/pituitary gland malformation and the endocrinological status of children with spina bifida should be emphasized in future studies. PMID:10661842

Kjaer, I; Fischer Hansen, B; Reintoft, I; Keeling, J W

1999-12-01

456

A novel splice site mutation in the EYA1 gene in a Korean family with branchio-oto (BO) syndrome.  

PubMed

Branchio-oto-renal (BOR) and branchio-oto (BO) syndromes are autosomal dominant hereditary disorders characterized by the presence of hearing loss and branchial fistulae and cysts, with (BOR syndrome) or without (BO syndrome) renal malformations of varying degrees of severity. Mutations in the human homologous of the Drosophila eyes absent (EYA1) gene are frequently the cause of BOR/BO syndrome. Here we describe a Korean family with BO syndrome; the proband had preauricular pit, cup-shaped auricles, branchial fistula, and hearing loss, without renal involvement. Molecular genetic study revealed a novel mutation occurring in the consensus acceptor splice site of intron 8 (c.868-2A > G) in the EYA1 gene. To the best of our knowledge, this is the first report of a splice site mutation in a family with BO syndrome without renal involvement, further extending the phenotypic-genotypic heterogeneity of BOR/BO syndrome. PMID:18763178

Kwon, Min-Jung; Boo, Sung Hyun; Kim, Hee-Jin; Cho, Yang-Sun; Chung, Won-Ho; Hong, Sung Hwa

2009-06-01

457

Gorlin Syndrome  

PubMed Central

Gorlin Syndrome, a rare genodermatosis, otherwise known as Nevoid basal cell carcinoma syndrome (NBCCS) is a multisystem disease affecting skin, nervous system, eyes, endocrine glands, and bones. It is characterized by multiple basal cell carcinomas, palmoplantar pits, jaw cysts, and bony deformities like kyphoscoliosis and frontal bossing. We would like to report a case of Gorlin syndrome with classical features, as this is a rare genodermatosis. PMID:23723494

Devi, Basanti; Behera, Binodini; Patro, Sibasish; Pattnaik, Subhransu S; Puhan, Manas R

2013-01-01

458

Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome.  

PubMed

Omphaloceles and left ventricular diverticulums are rare disorders. Although either is known to occur on its own, the combination is highly suggestive of the so-called pentalogy of Cantrell. This syndrome is a combination of deformities involving midline structures, with exteriorisation of the heart, or 'ectopia cordis', as the most severe malformation. A cause has yet to be identified, though genes located on the X-chromosome may be involved. We discuss a neonate who presented with an omphalocele and a palpable diverticulum of the left ventricle. An omphalocele, especially when above the umbilicus, is an indication for further investigation for deformities as seen in the spectrum of Cantrell's pentalogy, especially cardiac malformations and anterior diaphragmatic herniation. A left ventricular diverticulum is usually associated with Cantrell's syndrome. When found, it is usually accompanied by other intracardiac malformations, so that again further examination is indicated. In our patient, there was an atrial septal defect within the oval fossa, along with a ventricular septal defect and unobstructed albeit anomalous venous pulmonary return to the left atrium. Early surgical intervention seems to be indicated, as spontaneous rupture, arrhythmias, and thromobogenicity of the ventricular diverticulum have all been reported. PMID:11924596

Halbertsma, Feico J J; van Oort, Anton; van der Staak, Frans

2002-01-01

459

Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.  

PubMed

Chiari-like malformation (CM) is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB) breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF) flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL) approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls). Linear and mixed regression analyses identified associated single nucleotide polymorphisms (SNPs) on 5 Canis Familiaris Autosomes (CFAs): CFA2, CFA9, CFA12, CFA14 and CFA24. A reconstructed haplotype of 0.53 Mb on CFA2 strongly associated to the height of the cranial fossa (diameter F) and an haplotype of 2.5 Mb on CFA14 associated to both the height of the rostral part of the caudal cranial fossa (AE) and the height of the brain (FG) were significantly associated to CM after 10 000 permutations strengthening their candidacy for this disease (P?=?0.0421, P?=?0.0094 respectively). The CFA2 QTL harbours the Sall-1 gene which is an excellent candidate since its orthologue in humans is mutated in Townes-Brocks syndrome which has previously been associated to Chiari malformation I. Our study demonstrates the implication of multiple traits in the etiology of CM and has successfully identified two new QTL associated to CM and a potential candidate gene. PMID:24740420

Lemay, Philippe; Knowler, Susan P; Bouasker, Samir; Nédélec, Yohann; Platt, Simon; Freeman, Courtenay; Child, Georgina; Barreiro, Luis B; Rouleau, Guy A; Rusbridge, Clare; Kibar, Zoha

2014-01-01

460

Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes?  

PubMed

The discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of syndromes. However, it remains paramount to define unknown genesis syndromes as precisely and appropriately as possible in order to provide accurate prognosis and to facilitate future research. The presentation of a 14-month-old girl, of normal intelligence, who had a colobomatous right eye with cyst, minor intracranial MRI variants, and an area of sparse scalp hair containing a 1 by 1.5 cm, soft, domed, and indented skin lesion suggested a diagnosis of mild oculocerebrocutaneous syndrome (OCCS). An initial exploration of the literature exposed the extreme variability in cases that have been reported as OCCS, and emphasized its possible relationship to encephalocraniocutaneous lipomatosis (ECCL), thus challenging the initial diagnosis. Cases reported, or discussed by others, as possible OCCS (40) and ECCL (44) were reviewed as completely as possible in an effort to determine whether diagnostic criteria could be developed for these syndromes, and to see whether or not evidence favored their continued separation as two syndromes. The approach used was to summarize the data for all cases, to select major and minor diagnostic criteria on the basis of the relative specificity and/or frequency of a sign, to then apply the criteria in a standard fashion and to review the outcome to see if the classification of cases made clinical sense, and to make appropriate adjustments. The criteria were not chosen so as to separate the syndromes and in some instances the same criteria could apply to either syndrome. An approach is outlined for handling reports of patients that purport to be variants or to expand the spectrum of a syndrome, and in the case of OCCS and ECCL this resulted in most such examples being excluded. Application of diagnostic criteria suggests that OCCS and ECCL are distinct, and that some case reports, including some purporting to expand the spectrum of OCCS, should be excluded, at least until such time as the etiology of these conditions is known and those cases can be tested. These diagnostic criteria were developed on the basis of literature reports that varied in their quantity and quality of detail. Furthermore, in many cases reliance had to be placed on copies of original studies with resultant degradation of photographic information. Modern ocular imaging, and histopathology of eye and skin malformations, will often clarify the specific nature of a malformation and, therefore, define exact diagnostic criteria and leave fewer uncertain cases. In the absence of anomalies in those systems, or if histopathology or appropriate imaging is unavailable, the diagnosis in some cases will continue to remain uncertain; this is not an argument for lumping the syndromes. PMID:16523517

Hunter, Alasdair G W

2006-04-01

461

A description of spina bifida cases and co-occurring malformations, 1976-2011.  

PubMed

Mandatory folic acid fortification in the United States corresponded with a decline in the prevalence of spina bifida (SB). The aim of this study was to describe the epidemiologic characteristics of isolated versus non-isolated SB cases in both pre- and post-fortification periods. SB cases in the Slone Epidemiology Center Birth Defects Study from 1976 to 2011 without chromosomal anomalies and syndromes were included. A maternal interview, conducted within 6 months of delivery, collected information on demographics, reproductive history, diet, and supplement use. Daily folic acid intake in the periconceptional period was calculated using both dietary and supplement information and categorized as low intake (<400?µg/day) or high intake (?400?µg/day). SB cases (n?=?1170) were classified as isolated (80.4%) or non-isolated (19.1%). Non-isolated cases were further divided into subgroups based on accompanying major malformations (midline, renal, genital, heart, laterality). Compared to non-isolated cases, isolated cases were more likely to be white, non-Hispanic and have more than 12 years of education. Cases in the renal, genital, and heart subgroups had the lowest proportions of mothers with a high folic acid intake. The change from pre- to post-fortification was associated with a decrease in the proportion of isolated cases from 83% to 72%, though in both periods isolated cases were more likely to be female and their mothers were more likely to have high folic acid intake. These findings highlight the importance of separating isolated and non-isolated cases in etiologic research of SB. PMID:24357196

Parker, Samantha E; Yazdy, Mahsa M; Mitchell, Allen A; Demmer, Laurie A; Werler, Martha M

2014-02-01

462