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

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.

• Authors: P Maroteaux, J Badoual
• Journal: Archives francaises de pediatrie (Arch Fr Pediatr) Vol. 47 Issue 2 Pg. 103-6 (Feb 1990) ISSN: 0003-9764 [Print] France
• Vernacular Title: La chondrodysplasie microcéphalique sublétale. Syndrome de Taybi-Linder, nanisme microcéphalique primordial de types I et III.
• PMID: 2327863 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Dwarfism (complications, diagnostic imaging, genetics)
• Exostoses, Multiple Hereditary (complications, diagnostic imaging, genetics)
• Humans
• Infant
• Infant, Newborn
• Male
• Microcephaly (complications, diagnostic imaging, genetics)
• Radiography
• Syndrome