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[Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)].
Arch Fr Pediatr. 1982 Mar; 39(3):173-5.AF

Abstract

A North African brother and his sister, whose parents were first cousins, presented with the same disorder. It consisted of congenital dwarfism, facial dysmorphy and several skeletal anomalies including bilateral agenesis of the ala of scapula and hypoplasia of the ala of ilium and acetabulum, responsible for hip dislocation. No similar case was found in the literature. A recessive autosomal transmission of the disease is suggested.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

7103674

Citation

Cousin, J, et al. "[Familial Pelvi-scapulary Dysplasia With Anomalies of the Epiphyses, Dwarfism and Dysmorphy: a New Syndrome? (author's Transl)]." Archives Francaises De Pediatrie, vol. 39, no. 3, 1982, pp. 173-5.
Cousin J, Walbaum R, Cegarra P, et al. [Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)]. Arch Fr Pediatr. 1982;39(3):173-5.
Cousin, J., Walbaum, R., Cegarra, P., Huguet, J., Louis, J., Pauli, A., Fournier, A., & Fontaine, G. (1982). [Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)]. Archives Francaises De Pediatrie, 39(3), 173-5.
Cousin J, et al. [Familial Pelvi-scapulary Dysplasia With Anomalies of the Epiphyses, Dwarfism and Dysmorphy: a New Syndrome? (author's Transl)]. Arch Fr Pediatr. 1982;39(3):173-5. PubMed PMID: 7103674.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)]. AU - Cousin,J, AU - Walbaum,R, AU - Cegarra,P, AU - Huguet,J, AU - Louis,J, AU - Pauli,A, AU - Fournier,A, AU - Fontaine,G, PY - 1982/3/1/pubmed PY - 1982/3/1/medline PY - 1982/3/1/entrez SP - 173 EP - 5 JF - Archives francaises de pediatrie JO - Arch Fr Pediatr VL - 39 IS - 3 N2 - A North African brother and his sister, whose parents were first cousins, presented with the same disorder. It consisted of congenital dwarfism, facial dysmorphy and several skeletal anomalies including bilateral agenesis of the ala of scapula and hypoplasia of the ala of ilium and acetabulum, responsible for hip dislocation. No similar case was found in the literature. A recessive autosomal transmission of the disease is suggested. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/7103674/[Familial_pelvi_scapulary_dysplasia_with_anomalies_of_the_epiphyses_dwarfism_and_dysmorphy:_a_new_syndrome__author's_transl_]_ L2 - http://www.diseaseinfosearch.org/result/2355 DB - PRIME DP - Unbound Medicine ER -