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A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.
Clin Genet 1996; 49(1):2-5CG

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+Show Affiliations

Centre for Human Genetics, Liège University, Belgium.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8721563

Citation

Verloes, A, et al. "A New Form of Skeletal Dysplasia With Amelogenesis Imperfecta and Platyspondyly." Clinical Genetics, vol. 49, no. 1, 1996, pp. 2-5.
Verloes A, Jamblin P, Koulischer L, et al. A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. Clin Genet. 1996;49(1):2-5.
Verloes, A., Jamblin, P., Koulischer, L., & Bourguignon, J. P. (1996). A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. Clinical Genetics, 49(1), pp. 2-5.
Verloes A, et al. A New Form of Skeletal Dysplasia With Amelogenesis Imperfecta and Platyspondyly. Clin Genet. 1996;49(1):2-5. PubMed PMID: 8721563.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly. AU - Verloes,A, AU - Jamblin,P, AU - Koulischer,L, AU - Bourguignon,J P, PY - 1996/1/1/pubmed PY - 1996/1/1/medline PY - 1996/1/1/entrez SP - 2 EP - 5 JF - Clinical genetics JO - Clin. Genet. VL - 49 IS - 1 N2 - 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. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/8721563/A_new_form_of_skeletal_dysplasia_with_amelogenesis_imperfecta_and_platyspondyly_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=1996&volume=49&issue=1&spage=2 DB - PRIME DP - Unbound Medicine ER -