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[Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)].
Arch Fr Pediatr 1984; 41(1):57-60AF

Abstract

The authors report the case of an infant presenting with a syndrome associating dwarfism, microcephaly, facial dysmorphy and important skeletal abnormalities consisting of radiologic changes concerning the skull, long bones, vertebrae, pelvis, ribs, metacarpus and metatarsus. Severe cerebral atrophy and neurologic involvement were responsible for death in the first year of life. This rare syndrome is likely to have an autosomal recessive transmission.

Pub Type(s)

Case Reports
Journal Article

Language

fre

PubMed ID

6721654

Citation

Lavollay, B, et al. "[Congenital Familial Dwarfism With Cephaloskeletal Dysplasia (Taybi-Linder Syndrome)]." Archives Francaises De Pediatrie, vol. 41, no. 1, 1984, pp. 57-60.
Lavollay B, Faure C, Filipe G, et al. [Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)]. Arch Fr Pediatr. 1984;41(1):57-60.
Lavollay, B., Faure, C., Filipe, G., Branca, G., & Huet de Barochez, Y. (1984). [Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)]. Archives Francaises De Pediatrie, 41(1), pp. 57-60.
Lavollay B, et al. [Congenital Familial Dwarfism With Cephaloskeletal Dysplasia (Taybi-Linder Syndrome)]. Arch Fr Pediatr. 1984;41(1):57-60. PubMed PMID: 6721654.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Congenital familial dwarfism with cephaloskeletal dysplasia (Taybi-Linder syndrome)]. AU - Lavollay,B, AU - Faure,C, AU - Filipe,G, AU - Branca,G, AU - Huet de Barochez,Y, PY - 1984/1/1/pubmed PY - 1984/1/1/medline PY - 1984/1/1/entrez SP - 57 EP - 60 JF - Archives francaises de pediatrie JO - Arch. Fr. Pediatr. VL - 41 IS - 1 N2 - The authors report the case of an infant presenting with a syndrome associating dwarfism, microcephaly, facial dysmorphy and important skeletal abnormalities consisting of radiologic changes concerning the skull, long bones, vertebrae, pelvis, ribs, metacarpus and metatarsus. Severe cerebral atrophy and neurologic involvement were responsible for death in the first year of life. This rare syndrome is likely to have an autosomal recessive transmission. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/6721654/[Congenital_familial_dwarfism_with_cephaloskeletal_dysplasia__Taybi_Linder_syndrome_]_ L2 - http://www.diseaseinfosearch.org/result/2355 DB - PRIME DP - Unbound Medicine ER -