Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21  Wendy Balemans, Jenneke Van Den Ende, Auristela.

Presentation on theme: "Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21  Wendy Balemans, Jenneke Van Den Ende, Auristela."— Presentation transcript:

1 Localization of the Gene for Sclerosteosis to the van Buchem Disease–Gene Region on Chromosome 17q12–q21  Wendy Balemans, Jenneke Van Den Ende, Auristela Freire Paes-Alves, Frederik G. Dikkers, Patrick J. Willems, Filip Vanhoenacker, Neli de Almeida-Melo, Cristiane Freire Alves, Constantine A. Stratakis, Suvimol C. Hill, Wim Van Hul  The American Journal of Human Genetics  Volume 64, Issue 6, Pages (June 1999) DOI: /302416 Copyright © 1999 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Pedigrees of families studied. Males are represented by squares, females by circles. Blackened symbols represent affected individuals. For the studied individuals, the haplotypes are given for the markers shown on the left. The haplotype segregating with the disease is indicated by a blackened bar. a, Pedigree of Brazilian family with sclerosteosis. Patients A and B were studied by Paes-Alves et al. (1982). b, Pedigree of American family. The American Journal of Human Genetics  , DOI: ( /302416) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Clinical pictures of Brazilian patients with sclerosteosis. a–c, Frontal (a) and lateral b facial views and hands c of patient V-7. d, Frontal view of patient IV-1. Both patients show facial characteristics of sclerosteosis, with a high forehead, a protruding large chin, and facial-nerve paralysis; the hands of patients V-7 show syndactyly and nail dysplasia. The American Journal of Human Genetics  , DOI: ( /302416) Copyright © 1999 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Clinical pictures and CT scan of an American patient V-2 showing characteristics of sclerosteosis. a–b, Frontal a and lateral b facial views. c, CT scan of posterior fossa, indicating extensive sclerosis and marked thickening of skull base, with obliteration of the diploic space. The frontal sinuses are well developed. The American Journal of Human Genetics  , DOI: ( /302416) Copyright © 1999 The American Society of Human Genetics Terms and Conditions