Ellis–van Creveld syndrome with facial dysmorphic features in an Egyptian child
نویسندگان
چکیده
منابع مشابه
New dysmorphic features in Rubinstein-Taybi syndrome.
We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended...
متن کاملIdentification of an unbalanced cryptic translocation t(9;17)(q34.3;p13.3) in a child with dysmorphic features.
Reeived 20 March 1995 Revised version accepted for publication 5 June 1995 Abstract We report a case of an unbalanced cryptic telomeric translocation 46,XY,der(17),t(9; 17)(q34.3;pl3.3) in a boy with dysmorphic features and developmental delay. The proband had intrauterine growth retardation, postnatal short stature, and mild microcephaly. Magnetic resonance imaging showed incomplete myelinatio...
متن کاملDuplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.
We describe an infant with multiple dysmorphic features who is mosaic for duplication 17q21.1----qter, owing to a direct tandem duplication. He is the first case with mosaicism for a 17q duplication to be reported. His features are strikingly suggestive of Ellis-van Creveld syndrome.
متن کاملChromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features
We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The charac...
متن کاملEllis–van Creveld Syndrome in a 4-month-old Child: A Case Report
Abstract: Background: Ellis–Van-Creveld syndrome (EVC), otherwise known as chondroectodermal dysplasia. EVC presents several skeletal manifestations and congenital heart malformations. EVC syndrome consists of a tetrad of principal features: chondroectodermal dysplasia, polydactyly, congenital heart defects, and hypoplastic nails and teeth. In this syndrome alteration in the mechanical proper...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2010
ISSN: 1110-8630
DOI: 10.1016/j.ejmhg.2010.05.001