A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
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.
Verloes
A
A
Centre for Human Genetics, Liège University, Belgium.
Jamblin
P
P
Koulischer
L
L
Bourguignon
J P
JP
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