Article (Scientific journals)
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
Verloes, Alain; Jamblin, Paul; Koulischer, Lucien et al.
1996In Clinical Genetics, 49 (1), p. 2-5
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Keywords :
Multiple abnormalities; Consanguineous parents; Human genetics; Amelogenesis imperfecta; Congenital hand deformities
Abstract :
[en] 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.
Disciplines :
Endocrinology, metabolism & nutrition
Author, co-author :
Verloes, Alain ;  Université de Liège - ULiège > Centre de Génétique > Génétique générale et humaine
Jamblin, Paul;  Université de Liège - ULiège
Koulischer, Lucien ;  Université de Liège - ULiège > Centre de Génétique > Génétique générale et humaine
Bourguignon, Jean-Pierre ;  Université de Liège - ULiège > Département des sciences cliniques > Pédiatrie
Language :
English
Title :
A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly
Publication date :
January 1996
Journal title :
Clinical Genetics
ISSN :
0009-9163
eISSN :
1399-0004
Publisher :
Blackwell, Oxford, United Kingdom
Volume :
49
Issue :
1
Pages :
2-5
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 28 April 2021

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