Results 111 to 120 of about 2,276 (204)
Ectrodactyly - ectodermal dysplasia - cleft lip/palate syndrome: a rare entity
, 2015 Ectrodactyly-ectodermic dysplasia-cleft lip/palate (EEC) syndrome is a rare congenital anomaly of inherited origin and varying clinical features. This syndrome has three main symptoms, which display variable expression and penetrance.
Mishra, Sobhan +3 more
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This report aimed to present a case of ectrodactyly in a free-living adult female Erinaceus europaeus. At radiography and post-mortem dissection, the right hind limb developed 2 digits and aplasia of 3 digits. No other abnormality was found in this case.
Pires, Isabel +3 more
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Ectrodactyly in sisters and half sisters. [PDF]
Journal of Medical Genetics, 1988 Hennekam, R. C., Lommen, E. J.
openaire +1 more source
The First Documented Case of Ectrodactyly in Ghana: A Case Report. [PDF]
CureusSobbin SJ +5 more
europepmc +1 more source
Ectrodactyly and bilateral cleft lip palate in a 2-year-old boy: a rare case report. [PDF]
Int J Surg Case RepBudihardja AS +3 more
europepmc +1 more source
Novel TP63 Mutation (c.1768C>T, p.Pro590Ser) Expands the Phenotypic Spectrum of TP63-related Disorders: Severe Palmoplantar Hyperkeratosis, Ectodermal Dysplasia, and Cutaneous Squamous Cell Carcinoma. [PDF]
Acta Derm VenereolXu X, Lin Z, Lin Y, Kang H, Xiao C.
europepmc +1 more source
Intracardiac myxoma of unusual topography and rare clinical presentation in the context of congenital polymalformative syndrome: a case report. [PDF]
Eur Heart J Case RepSeminerio J, Strachinaru M.
europepmc +1 more source
Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?
, 1996 PubMedID: 8740915This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development.
Satar N. +5 more
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