title: A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
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.
authors.affiliation: Centre for Human Genetics, Liège University, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: P
authors.initials: P
authors.lastname: Jamblin
authors.forename: L
authors.initials: L
authors.lastname: Koulischer
authors.forename: J P
authors.initials: JP
authors.lastname: Bourguignon
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000503:physiopathology*; D002648:Child; D005260:Female; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000503:physiopathology*; D010388:Pelvis / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology