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Mesomelic limb shortness: a previously unreported autosomal recessive type.
Am J Med Genet. 1993 Oct 01; 47(5):788-92.AJ

Abstract

We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities.

Authors+Show Affiliations

Department of Paediatric Genetics, Hospitals for Sick Children, London, United Kingdom.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8267013

Citation

Reardon, W, et al. "Mesomelic Limb Shortness: a Previously Unreported Autosomal Recessive Type." American Journal of Medical Genetics, vol. 47, no. 5, 1993, pp. 788-92.
Reardon W, Hall CM, Slaney S, et al. Mesomelic limb shortness: a previously unreported autosomal recessive type. Am J Med Genet. 1993;47(5):788-92.
Reardon, W., Hall, C. M., Slaney, S., Huson, S. M., Connell, J., al-Hilaly, N., Fixsen, J., Baraitser, M., & Winter, R. M. (1993). Mesomelic limb shortness: a previously unreported autosomal recessive type. American Journal of Medical Genetics, 47(5), 788-92.
Reardon W, et al. Mesomelic Limb Shortness: a Previously Unreported Autosomal Recessive Type. Am J Med Genet. 1993 Oct 1;47(5):788-92. PubMed PMID: 8267013.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mesomelic limb shortness: a previously unreported autosomal recessive type. AU - Reardon,W, AU - Hall,C M, AU - Slaney,S, AU - Huson,S M, AU - Connell,J, AU - al-Hilaly,N, AU - Fixsen,J, AU - Baraitser,M, AU - Winter,R M, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 788 EP - 92 JF - American journal of medical genetics JO - Am J Med Genet VL - 47 IS - 5 N2 - We report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8267013/Mesomelic_limb_shortness:_a_previously_unreported_autosomal_recessive_type_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=5&spage=788 DB - PRIME DP - Unbound Medicine ER -