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Dyssegmental Dwarfism: A Lethal Anisospondylic Camptomicromelic Dwarfism

Dyssegmental Dwarfism: A Lethal Anisospondylic Camptomicromelic Dwarfism Abstract • Dyssegmental dwarfism is a lethal anisospondylic camptomicromelic form of growth retardation that appears to have autosomal recessive inheritance. It is characterized by short neck, cleft palate, narrow chest, severe shortening of long bones and trunk, reduced joint mobility, inguinal hernia, and probably hirsutism and hydroureter/hydronephrosis. Some cases are seen with occipital exencephalocele. The long bones are short and bent with metaphyseal flaring. The vertebral bodies are of different size and many consist of separate ossified masses. The iliac bones are small with hypoplasia of the horizontal and inferior margins. Maturation of cartilage cells at the epiphyseal plates is grossly disturbed and there are puddle-like spaces among the resting cartilage cells. (Am J Dis Child 132:382-386, 1978) http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Dyssegmental Dwarfism: A Lethal Anisospondylic Camptomicromelic Dwarfism

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1978.02120290054010
Publisher site
See Article on Publisher Site

Abstract

Abstract • Dyssegmental dwarfism is a lethal anisospondylic camptomicromelic form of growth retardation that appears to have autosomal recessive inheritance. It is characterized by short neck, cleft palate, narrow chest, severe shortening of long bones and trunk, reduced joint mobility, inguinal hernia, and probably hirsutism and hydroureter/hydronephrosis. Some cases are seen with occipital exencephalocele. The long bones are short and bent with metaphyseal flaring. The vertebral bodies are of different size and many consist of separate ossified masses. The iliac bones are small with hypoplasia of the horizontal and inferior margins. Maturation of cartilage cells at the epiphyseal plates is grossly disturbed and there are puddle-like spaces among the resting cartilage cells. (Am J Dis Child 132:382-386, 1978)

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Apr 1, 1978

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