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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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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spelling	doaj-c9130796e99640f89871c708b84932b82020-11-25T02:36:01ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302017-01-01181879210.1016/j.ejmhg.2015.12.001Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian childRabah M. ShawkyRadwa GamalNayera MostafaWe 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 lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation.http://www.sciencedirect.com/science/article/pii/S111086301500124XKabuki make-up syndromeGenitourinary anomaliesHyperpigmentationMental retardation
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Rabah M. Shawky Radwa Gamal Nayera Mostafa
spellingShingle	Rabah M. Shawky Radwa Gamal Nayera Mostafa Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child Egyptian Journal of Medical Human Genetics Kabuki make-up syndrome Genitourinary anomalies Hyperpigmentation Mental retardation
author_facet	Rabah M. Shawky Radwa Gamal Nayera Mostafa
author_sort	Rabah M. Shawky
title	Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
title_short	Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
title_full	Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
title_fullStr	Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
title_full_unstemmed	Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
title_sort	kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an egyptian child
publisher	SpringerOpen
series	Egyptian Journal of Medical Human Genetics
issn	1110-8630
publishDate	2017-01-01
description	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 lower eyelids, bilateral ptosis, long eyelashes, blue sclera, depressed nasal bridge, broad nose with everted nares, and low set small deformed ears, thin lips, low post hair line, short neck, persistent fingertip pads, dysplastic nails, hypermobile joints, pigmented nevus on the back, lateral side of right foot and right leg and mild hypertrichosis over the lower back. Our patient had also a non-functioning left kidney, multiple chalazions in upper eyelids, enlargement of the glans penis, which were not reported previously, and moderate mental retardation.
topic	Kabuki make-up syndrome Genitourinary anomalies Hyperpigmentation Mental retardation
url	http://www.sciencedirect.com/science/article/pii/S111086301500124X
work_keys_str_mv	AT rabahmshawky kabukimakeupsyndromewithgenitourinaryanomaliesophthalmologicfeaturesandhyperpigmentationinanegyptianchild AT radwagamal kabukimakeupsyndromewithgenitourinaryanomaliesophthalmologicfeaturesandhyperpigmentationinanegyptianchild AT nayeramostafa kabukimakeupsyndromewithgenitourinaryanomaliesophthalmologicfeaturesandhyperpigmentationinanegyptianchild
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Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

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