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Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism


Majewski, F; Ranke, M; Schinzel, Albert; Opitz, John M (1982). Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism. American Journal of Medical Genetics, 12(1):23-35.

Abstract

We describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this “new” type of IUGR remains unclear.

Abstract

We describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this “new” type of IUGR remains unclear.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), primordial dwarfism, skeletal anomalies, dysproportion
Language:English
Date:1 May 1982
Deposited On:20 Jan 2023 11:43
Last Modified:28 Apr 2024 01:45
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:0148-7299
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/ajmg.1320120104