[Bird headed dwarfism in Seckel syndrome. Nosologic difficulties]. / Le nanisme à tête d'oiseau ou syndrome de Seckel. Difficultés nosologiques.
Arch Pediatr
; 3(1): 55-62, 1996 Jan.
Article
em Fr
| MEDLINE
| ID: mdl-8745829
ABSTRACT
Seckel syndrome is a clinical picture which associates four main features intrauterine growth retardation, microcephaly often due to craniosynostosis, orofacial dysmorphology with bird headed appearance and variable mental retardation which is present after several months. Malformations of the central nervous system, limbs, and hair, may also be observed. On the basis of 78 cases reported in the literature, the authors discuss the validity of the morphological features of the syndrome. It is likely that the variability in the expressivity of each symptom explains its heterogeneity. According to the radiological abnormalities, three different forms of the syndrome have been described. Seckel syndrome is a genetic disorder with autosomal recessive inheritance. Its ethiopatogeny remains unclear. Hopefully linkage studies will allow to map the gene in order to determine the underlying abnormal protein.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Dano Encefálico Crônico
/
Nanismo
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Child
/
Female
/
Humans
/
Pregnancy
Idioma:
Fr
Revista:
Arch Pediatr
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
França