Trichorhinophalangeal syndrome II, expanding the clinical spectrum

We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilateral downward slanting palpebral fissures, bulbous no...

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Bibliographic Details
Main Authors: Rabah M. Shawky, Heba Salah Abd Elkhalek, Ahmed ES Elghawaby, Shaimaa Abdelsattar Mohammad, Neveen S. Seifeldin
Format: Article
Language:English
Published: SpringerOpen 2015-01-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1110863014000639