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

We report a 4.5year 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...

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Bibliographic Details
Published in:The Egyptian journal of medical human genetics 2016-10, Vol.17 (4), p.397-400
Main Authors: Shawky, Rabah M., Gamal, Radwa
Format: Article
Language:English
Subjects:
Absent patella
Clitromegaly
Gastro esophageal reflux
Hydronephrosis
Hypoplastic labia majora
Meier–Gorlin syndrome
Microtia
Renal stones
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Summary:We report a 4.5year 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.
ISSN:1110-8630
2090-2441
DOI:10.1016/j.ejmhg.2015.12.006