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[Bird headed dwarfism in Seckel syndrome. Nosologic difficulties].
Arch Pediatr. 1996 Jan; 3(1):55-62.AP

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.

Authors+Show Affiliations

Service de pédiatrie et génétique médicale, CHU Morvan, Brest, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

fre

PubMed ID

8745829

Citation

Parent, P, et al. "[Bird Headed Dwarfism in Seckel Syndrome. Nosologic Difficulties]." Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, vol. 3, no. 1, 1996, pp. 55-62.
Parent P, Moulin S, Munck MR, et al. [Bird headed dwarfism in Seckel syndrome. Nosologic difficulties]. Arch Pediatr. 1996;3(1):55-62.
Parent, P., Moulin, S., Munck, M. R., de Parscau, L., & Alix, D. (1996). [Bird headed dwarfism in Seckel syndrome. Nosologic difficulties]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 3(1), 55-62.
Parent P, et al. [Bird Headed Dwarfism in Seckel Syndrome. Nosologic Difficulties]. Arch Pediatr. 1996;3(1):55-62. PubMed PMID: 8745829.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Bird headed dwarfism in Seckel syndrome. Nosologic difficulties]. AU - Parent,P, AU - Moulin,S, AU - Munck,M R, AU - de Parscau,L, AU - Alix,D, PY - 1996/1/1/pubmed PY - 2000/5/5/medline PY - 1996/1/1/entrez SP - 55 EP - 62 JF - Archives de pediatrie : organe officiel de la Societe francaise de pediatrie JO - Arch Pediatr VL - 3 IS - 1 N2 - 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. SN - 0929-693X UR - https://www.unboundmedicine.com/medline/citation/8745829/[Bird_headed_dwarfism_in_Seckel_syndrome__Nosologic_difficulties]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0929-693X(96)80011-X DB - PRIME DP - Unbound Medicine ER -