Glaucoma with a Larsen-like syndrome.
A 12-year-old girl with a history of intrauterine growth delay, hip dysplasia, dislocated elbows and knees, dislocatable knuckles, bifid thumb, joint laxity and short stature is presented. She developed glaucoma at age four and was operated at age 14. Her sister had similar dislocations and died of complications of an atrioventricular canal at age three months. Clinical and genetic features of these two patients are discussed as well as their similarity and differences with the Larsen syndrome.
Bitoun
P
P
Hôpital Jean Verdier, Bondy, France.
D000015:Abnormalities, Multiple; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D005901:Glaucoma / Q000235:genetics*; D006618:Hip Dislocation, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D013577:Syndrome