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  • Title: A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
    Author: Verloes A, Jamblin P, Koulischer L, Bourguignon JP.
    Journal: Clin Genet; 1996 Jan; 49(1):2-5. PubMed ID: 8721563.
    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.
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