Optic nerve findings in CHILD syndrome.
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. The authors present the first report of CHILD syndrome with ocular manifestations in a patient with progressive bilateral optic nerve atrophy.
Knape
Robert M
RM
Department of Ophthalmology, University of Florida College of Medicine, Gainesville, Florida, USA. rknape@ufl.edu
Gandhi
Kunjal B
KB
Tuli
Sanjeev Y
SY
Khuddus
Nausheen
N
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002675:Child, Preschool; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis*; D017880:Limb Deformities, Congenital / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D015418:Optic Atrophies, Hereditary / Q000175:diagnosis*