نتایج جستجو برای: facial dysmorphism

تعداد نتایج: 60752  

Journal: :Pediatric dentistry 1989
W K Seow

In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome d...

غفاری , جواد, غفاری ساروی , وجیهه, فریبرزی , محمدرضا,

Cornelia De Lange is a rare congenital syndrome with multiple anomalies including Facial dysmorphism, hirsutism, height, weight and head circumflex retardations, cardiac defects, gastrointestinal and renal defects and extremity anomaly. Prevalence of this syndrome is 1 to 30000 or 1 to 50000. The diagnosis of this syndrome is based on clinical evidence. Genetic foundation is known to have two...

Journal: :Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2013
Patrício Aguiar Diogo Cruz Rita Ferro Rodrigues Francisco Araújo José Luís Ducla Soares

We report the case of a 35-year-old man admitted due to heart failure, who had had moderate cognitive deficit, craniofacial dysmorphism, epilepsy, panic attacks and congenital heart disease (subvalvular aortic stenosis) associated with chronic atrial fibrillation since childhood. In view of his facial dysmorphism and clinical presentation, karyotype analysis was performed and revealed a de novo...

2015
Frenny Sheth Sunil Trivedi Joris Andrieux Jean-Louis Blouin Jayesh Sheth

'Pure' interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627-971 kb dup(6)(q22.31q22.31) encompassing TRDN ...

Journal: :International journal of pediatric otorhinolaryngology 2000
M Matheny B Hall J M Manaligod

The oral-facial-digital (OFD) syndromes are a heterogeneous group of hereditary disorders which have in common the findings of oral abnormalities, facial dysmorphism, and hand/feet malformations. We report the case history of an 18-month-old male with cerebellar cysts, hydrocephalus, tongue hamartomas, and polydactyly. These findings are most consistent with OFD VI. The clinical features of eig...

2015
Cristina Vilhena Cátia Gameiro Cláudia Tomás Antónia Santos Raquel Ilgenfritz

Fetal warfarin syndrome is a consequence of maternal intake of warfarin during pregnancy and comprises a wide range of manifestations, including some typical facial dysmorphologic features. The authors report a case of prenatal ultrasonographic diagnosis of warfarin embryopathy in an obese woman on unsupervised warfarin prophylaxis at the 16th week of gestation. The fetus presented with facial ...

Journal: :Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2017
Mirela Anişoara Siminel Cristian Ovidiu NeamŢu Damian DiŢescu Mircea Cătălin ForŢofoiu Alexandru Cristian Comănescu Marius Bogdan Novac Simona Daniela NeamŢu Adrian Gluhovschi

Apert syndrome - acrocephalosyndactyly - is a rare autosomal dominant disorder representing 1:65 000 cases of living newborns. Characteristic malformations of the Apert syndrome are early craniostenosis, microviscerocranium and II-V finger syndactyly of hand and toes with proximal phalanx of the bilateral thumb "in delta". It is difficult to determine prenatal diagnosis in the second quarter, w...

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