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Egyptian Journal of Medical Human Genetics

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Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

Rabah M Shawky, Solaf M Elsayed, Heba Amgad

Abstract


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.

Keywords: Ichthyosis; Limb reduction; CHILD; Autosomal recessive




http://dx.doi.org/10.1016/j.ejmhg.2015.08.009
AJOL African Journals Online