[Two cases of chondrodysplasia punctuate are reported].
The first one was a 13 months old lewish boy with typical features of the rhizometic type; clinicaly the patient demonstrated cataract, esotropia, nystagmus, malnutrition, micromelia, contracture, multiple stippled calcifications about the periphery of the cartilagenous structures of the vertebral bodies, sternum, wrists, knees, heels, ribs; and profound mental retardation, After cataract operation, the head of the optic nerve demonstrate to be narrower than usualy and white. Pathologic studies of the lens' fragments after surgery showed the cataract to be without any specific characters. The child now 2 yrs and 1/2 old is still alive but in poor condition. The second was a 16 months old Arabic boy without typical features but with a cataract and stippled calfications of a limited number of epiphysae. Pathologic studies of the lens after cataract surgery showed the cataracts to be without any specific characters, the optic nerves were normal. The child now 3 yrs old is normally developed and in good conditions. It is remarquable to note that in both cases there was an history of consanguinity (mother and father were first cousins).
D000015:Abnormalities, Multiple / Q000235:genetics; D002386:Cataract / Q000235:genetics / Q000473:pathology; D002806:Chondrodysplasia Punctata / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D002829:Choroid / Q000002:abnormalities; D003241:Consanguinity; D005132:Eye Manifestations; D006801:Humans; D007223:Infant; D007908:Lens, Crystalline / Q000002:abnormalities; D011379:Prognosis; D011859:Radiography
Atteintes oclaires des chondrodysplasies ponctuées. A propos de deux cas.