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Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.
Hum Genet. 1989 May; 82(2):167-70.HG

Abstract

The author describes four cases of chondrodysplasia punctata with an hypoplasia of the distal phalanges of the fingers. In these cases, growth disturbance is moderate without asymmetry of the limbs, and the facial dysmorphism is similar to that found in Binder's maxillo-facial dysostosis. The phalangeal anomaly is very important for the diagnosis of chondrodysplasia punctata at an age when epiphyseal stippling is no longer present. The relationship of this form of chondrodysplasia with cases in which there is a deletion of the terminal short arm of the X chromosome is discussed. A possible hypothesis is that this form, which is always observed in males, is secondary to an isolated mutation of the Xp localized gene.

Authors+Show Affiliations

Unité de Recherches de Génétique Médicale (INSERM U.12 et CNRS UA.584), Hôpital des Enfants-Malades, Paris, France.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

2722194

Citation

Maroteaux, P. "Brachytelephalangic Chondrodysplasia Punctata: a Possible X-linked Recessive Form." Human Genetics, vol. 82, no. 2, 1989, pp. 167-70.
Maroteaux P. Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. Hum Genet. 1989;82(2):167-70.
Maroteaux, P. (1989). Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. Human Genetics, 82(2), 167-70.
Maroteaux P. Brachytelephalangic Chondrodysplasia Punctata: a Possible X-linked Recessive Form. Hum Genet. 1989;82(2):167-70. PubMed PMID: 2722194.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form. A1 - Maroteaux,P, PY - 1989/5/1/pubmed PY - 1989/5/1/medline PY - 1989/5/1/entrez SP - 167 EP - 70 JF - Human genetics JO - Hum Genet VL - 82 IS - 2 N2 - The author describes four cases of chondrodysplasia punctata with an hypoplasia of the distal phalanges of the fingers. In these cases, growth disturbance is moderate without asymmetry of the limbs, and the facial dysmorphism is similar to that found in Binder's maxillo-facial dysostosis. The phalangeal anomaly is very important for the diagnosis of chondrodysplasia punctata at an age when epiphyseal stippling is no longer present. The relationship of this form of chondrodysplasia with cases in which there is a deletion of the terminal short arm of the X chromosome is discussed. A possible hypothesis is that this form, which is always observed in males, is secondary to an isolated mutation of the Xp localized gene. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/2722194/Brachytelephalangic_chondrodysplasia_punctata:_a_possible_X_linked_recessive_form_ L2 - http://www.diseaseinfosearch.org/result/1361 DB - PRIME DP - Unbound Medicine ER -