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Microcephalic osteodysplastic dwarfism (type II-like) in siblings.
Clin Genet 1987; 32(2):88-94CG

Abstract

We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.

Authors+Show Affiliations

Department of Genetics, Sart Tilman University Hospital Center, University of Liège, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

3652495

Citation

Verloes, A, et al. "Microcephalic Osteodysplastic Dwarfism (type II-like) in Siblings." Clinical Genetics, vol. 32, no. 2, 1987, pp. 88-94.
Verloes A, Lambrechts L, Senterre J, et al. Microcephalic osteodysplastic dwarfism (type II-like) in siblings. Clin Genet. 1987;32(2):88-94.
Verloes, A., Lambrechts, L., Senterre, J., & Lambotte, C. (1987). Microcephalic osteodysplastic dwarfism (type II-like) in siblings. Clinical Genetics, 32(2), pp. 88-94.
Verloes A, et al. Microcephalic Osteodysplastic Dwarfism (type II-like) in Siblings. Clin Genet. 1987;32(2):88-94. PubMed PMID: 3652495.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Microcephalic osteodysplastic dwarfism (type II-like) in siblings. AU - Verloes,A, AU - Lambrechts,L, AU - Senterre,J, AU - Lambotte,C, PY - 1987/8/1/pubmed PY - 1987/8/1/medline PY - 1987/8/1/entrez SP - 88 EP - 94 JF - Clinical genetics JO - Clin. Genet. VL - 32 IS - 2 N2 - We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/3652495/Microcephalic_osteodysplastic_dwarfism__type_II_like__in_siblings_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1987&volume=32&issue=2&spage=88 DB - PRIME DP - Unbound Medicine ER -