[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III].
The authors describe a case of microcephalic dwarfism observed in a newborn until 10 months of age and discuss the diagnostic challenge. They show that the Taybi-Linder syndrome and the primordial dwarfism type I and type III of Majewski are an identical recessive autosomal entity. The radiological evolution explains the initial separation of type I and type III. Because of the skeletal lesions, lacking in the Seckel syndrome, the name of sublethal microcephalic chondrodysplasia is proposed for this disease.
Maroteaux
P
P
INSERM U 12 et CNRS ERA 178, Hôpital des Enfants-Malades, Paris.
Badoual
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D004392:Dwarfism / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D005097:Exostoses, Multiple Hereditary / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D013577:Syndrome
La chondrodysplasie microcéphalique sublétale. Syndrome de Taybi-Linder, nanisme microcéphalique primordial de types I et III.