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[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III].

作者信息

Maroteaux P, Badoual J

机构信息

INSERM U 12 et CNRS ERA 178, Hôpital des Enfants-Malades, Paris.

出版信息

Arch Fr Pediatr. 1990 Feb;47(2):103-6.

PMID:2327863
Abstract

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.

摘要

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