Recessive X-linked ichthyosis

Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.

Mesomelia

Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments.


Total: 1

                       


(per page)
PMID (PMCID)
14636323
 MALE Infant, Newborn
An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Doherty MJ, Glass IA, Bennett CL, Cotter PD, Watson NF, Mitchell AL, Bird TD, Farrell DF.
Epilepsia. 2003;44(12):1529-35.
The subjects had generalized epilepsy, X-linked ichthyosis, Madelung deformities, mesomelia, normal intelligence, and attention deficits.