Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

We report a 3.5 year old male child, first in order of birth of healthy consanguineous Egyptian parents with typical characteristics of Kabuki make-up syndrome. The patient had microcephaly, high arched sparse eyebrows, hypertelorism, long palpebral fissures with eversion of the lateral third of the...

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Bibliographic Details
Main Authors: Rabah M. Shawky, Radwa Gamal, Nayera Mostafa
Format: Article
Language:English
Published: SpringerOpen 2017-01-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Kabuki make-up syndrome
Genitourinary anomalies
Hyperpigmentation
Mental retardation
Online Access:http://www.sciencedirect.com/science/article/pii/S111086301500124X

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http://www.sciencedirect.com/science/article/pii/S111086301500124X

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