Autosomal recessive ichthyosis with limb reduction defect : a simple association and not CHILD syndrome
Joint Authors
Amjad, Hibah
al-Sayyid, Sulaf M.
Shawki, Rabah M.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 3 (31 Jul. 2016), pp.255-258, 4 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-07-31
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Pharmacy, Health & Medical Sciences
Abstract EN
Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms.
One of which is limb reduction defect known as CHILD syndrome; a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body.
Here we describe an Egyptian child with generalized lamellar ichthyosis and limb reduction defect.
Most probably this is a simple association and not a rare case of CHILD syndrome with bilateral skin involvement.
American Psychological Association (APA)
Shawki, Rabah M.& al-Sayyid, Sulaf M.& Amjad, Hibah. 2016. Autosomal recessive ichthyosis with limb reduction defect : a simple association and not CHILD syndrome. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 3, pp.255-258.
https://search.emarefa.net/detail/BIM-733794
Modern Language Association (MLA)
al-Sayyid, Sulaf M.…[et al.]. Autosomal recessive ichthyosis with limb reduction defect : a simple association and not CHILD syndrome. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 3 (Jul. 2016), pp.255-258.
https://search.emarefa.net/detail/BIM-733794
American Medical Association (AMA)
Shawki, Rabah M.& al-Sayyid, Sulaf M.& Amjad, Hibah. Autosomal recessive ichthyosis with limb reduction defect : a simple association and not CHILD syndrome. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 3, pp.255-258.
https://search.emarefa.net/detail/BIM-733794
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 258
Record ID
BIM-733794