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Am J Med Genet. 1990 Mar;35(3):388-93.

A "new" skeletal dysplasia in two unrelated boys.

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1
Greenwood Genetic Center, Greenwood, South Carolina.

Abstract

We report on 2 unrelated boys with similar physical and radiographic findings that may represent a "new" skeletal dysplasia. Findings in common include early speech delay, short stature, frontal bossing with a depression over the metopic suture, a narrow nasal root with beaked nose, midfacial hypoplasia with relatively prominent eyes, and brachydactyly with blunt fingers. Radiographic findings include mild irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges with increased distal width, coning and sclerosis of several epiphyses, and overtubulation of the long bones. Although these patients share some manifestations with the floating-harbor syndrome (Robinson et al.: J Pediatr 113:703-706, 1988), their radiographic changes are distinctive and are not suggestive of a recognized skeletal dysplasia syndrome.

PMID:
2309787
DOI:
10.1002/ajmg.1320350315
[Indexed for MEDLINE]
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