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A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
Author(s) -
Verloes Alain,
Jamblin Paul,
Koulischer Lucien,
Bourguig JeanPierre
Publication year - 1996
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1996.tb04315.x
Subject(s) - amelogenesis imperfecta , osteogenesis imperfecta , osteochondrodysplasia , dysplasia , medicine , anatomy , biology , genetics , dentistry , enamel paint
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.