[Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)].
The authors report the case of an infant presenting with a syndrome associating dwarfism, microcephaly, facial dysmorphy and important skeletal abnormalities consisting of radiologic changes concerning the skull, long bones, vertebrae, pelvis, ribs, metacarpus and metatarsus. Severe cerebral atrophy and neurologic involvement were responsible for death in the first year of life. This rare syndrome is likely to have an autosomal recessive transmission.
D001848:Bone Diseases, Developmental / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics; D004392:Dwarfism / Q000151:congenital* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D011859:Radiography; D013577:Syndrome
Nanisme familial congénital avec dysplasie céphalo-squelettique (syndrome de Taybi-Linder).