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Clin Genet. 1996 Jan;49(1):2-5.

A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.

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1
Centre for Human Genetics, Li├Ęge University, Belgium.

Abstract

We report two patients, born of consanguineous parents, affected by a disorder resulting in mild growth retardation. Hallmarks are amelogenesis imperfecta (absence of the enamel cap) associated with brachyolmia-like anomalies: platyspondyly with short pedicles, narrow intervertebral and interpedicular distances, rectangular-shaped vertebrae with posterior scalloping and herniation of the nuclei, and broad femoral necks. Inheritance appears to be autosomal recessive.

PMID:
8721563
[Indexed for MEDLINE]
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