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Egyptian Journal of Medical Human Genetics

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Meier–Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly

Rabah M. Shawky, Radwa Gamal

Abstract


We report a 4.5 year old female child with the classical triad of Meier–Gorlin syndrome (microtia, absent patella and short stature) with normal mentality. She had small triangular face, long peaked nose, high nasal bridge, bilateral low set very small ears (microtia), retromicrognathia, high arched palate, maxillary hypoplasia, decayed teeth, and bilateral partial syndactyly between 2nd and 3rd toes. Our patient had a gastroesophageal reflux, renal stones, hydronephrosis and hypoplastic labia majora and minora with clitromegaly.




http://dx.doi.org/10.1016/j.ejmhg.2015.12.006
AJOL African Journals Online