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Osteodysplastic variant of primordial dwarfism.
Am J Med Genet 1991; 40(2):146-50AJ

Abstract

A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity suggests autosomal recessive inheritance.

Authors+Show Affiliations

Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

1897566

Citation

Shebib, S, et al. "Osteodysplastic Variant of Primordial Dwarfism." American Journal of Medical Genetics, vol. 40, no. 2, 1991, pp. 146-50.
Shebib S, Hugosson C, Sakati N, et al. Osteodysplastic variant of primordial dwarfism. Am J Med Genet. 1991;40(2):146-50.
Shebib, S., Hugosson, C., Sakati, N., & Nyhan, W. L. (1991). Osteodysplastic variant of primordial dwarfism. American Journal of Medical Genetics, 40(2), pp. 146-50.
Shebib S, et al. Osteodysplastic Variant of Primordial Dwarfism. Am J Med Genet. 1991 Aug 1;40(2):146-50. PubMed PMID: 1897566.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Osteodysplastic variant of primordial dwarfism. AU - Shebib,S, AU - Hugosson,C, AU - Sakati,N, AU - Nyhan,W L, PY - 1991/8/1/pubmed PY - 1991/8/1/medline PY - 1991/8/1/entrez SP - 146 EP - 50 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 40 IS - 2 N2 - A patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity suggests autosomal recessive inheritance. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/1897566/Osteodysplastic_variant_of_primordial_dwarfism_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1991&volume=40&issue=2&spage=146 DB - PRIME DP - Unbound Medicine ER -