Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
Joint Authors
Shawqi, Rabah M.
Mustafa, Nayera
Jamal, Radwah
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 18, Issue 1 (31 Jan. 2017), pp.87-92, 6 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2017-01-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Topics
Abstract EN
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
American Psychological Association (APA)
Shawqi, Rabah M.& Jamal, Radwah& Mustafa, Nayera. 2017. Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child. The Egyptian Journal of Medical Human Genetics،Vol. 18, no. 1, pp.87-92.
https://search.emarefa.net/detail/BIM-777807
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child. The Egyptian Journal of Medical Human Genetics Vol. 18, no. 1 (Jan. 2017), pp.87-92.
https://search.emarefa.net/detail/BIM-777807
American Medical Association (AMA)
Shawqi, Rabah M.& Jamal, Radwah& Mustafa, Nayera. Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child. The Egyptian Journal of Medical Human Genetics. 2017. Vol. 18, no. 1, pp.87-92.
https://search.emarefa.net/detail/BIM-777807
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 91-92
Record ID
BIM-777807