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Autosomal dominant inheritance of scapuloiliac dysostosis

Autosomal dominant inheritance of scapuloiliac dysostosis <h5>To the Editor</h5> Scapuloiliac dysostosis (pelvis‐shoulder dysplasia, OMIM 169550) is a rare and apparently heterogeneous focal skeletal dysostosis. Only 6 cases have been documented in the literature [Kosenow et al., 1970 ; Thomas et al., 1977 ; Walbaum et al., 1982 ; Blane et al., 1984 ; Hauser et al., 1998 ] (see Table I ). The major features comprise hypoplasia of the ilia, acetabula and scapulae, lumbar lordosis, and congenital hip dislocation. Ophthalmological abnormalities have been described in two cases, and include microphthalmia, coloboma of the iris or optic nerve, ectopic pupil and corneal clouding. Other variable features include spina bifida occulta, abnormal external ears, rib abnormalities, digital abnormalities and hypoplasia of the fibulae. The syndrome of pelvis‐shoulder dysplasia with epiphyseal changes, facial abnormalities and rhizomelic short stature, described in the offspring of consanguineous parents [Cousin et al., 1982 ], probably represents a distinct autosomal recessive syndrome. I Features of Reported Cases of Scapuloiliac Dysostosis * Kosenow et al., [ 1970 ] Case 1 Kosenow et al., [ 1970 ] Case 2 Kosenow et al., [ 1970 ] (Father of Case 2) Thomas et al., [ 1977 ] Walbaum et al., [ 1982 ] Blane et al., http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

Autosomal dominant inheritance of scapuloiliac dysostosis

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Publisher
Wiley
Copyright
Copyright © 2000 Wiley‐Liss, Inc.
ISSN
1552-4868
eISSN
1552-4833
DOI
10.1002/1096-8628(20001218)95:5<507::AID-AJMG17>3.3.CO;2-5
Publisher site
See Article on Publisher Site

Abstract

<h5>To the Editor</h5> Scapuloiliac dysostosis (pelvis‐shoulder dysplasia, OMIM 169550) is a rare and apparently heterogeneous focal skeletal dysostosis. Only 6 cases have been documented in the literature [Kosenow et al., 1970 ; Thomas et al., 1977 ; Walbaum et al., 1982 ; Blane et al., 1984 ; Hauser et al., 1998 ] (see Table I ). The major features comprise hypoplasia of the ilia, acetabula and scapulae, lumbar lordosis, and congenital hip dislocation. Ophthalmological abnormalities have been described in two cases, and include microphthalmia, coloboma of the iris or optic nerve, ectopic pupil and corneal clouding. Other variable features include spina bifida occulta, abnormal external ears, rib abnormalities, digital abnormalities and hypoplasia of the fibulae. The syndrome of pelvis‐shoulder dysplasia with epiphyseal changes, facial abnormalities and rhizomelic short stature, described in the offspring of consanguineous parents [Cousin et al., 1982 ], probably represents a distinct autosomal recessive syndrome. I Features of Reported Cases of Scapuloiliac Dysostosis * Kosenow et al., [ 1970 ] Case 1 Kosenow et al., [ 1970 ] Case 2 Kosenow et al., [ 1970 ] (Father of Case 2) Thomas et al., [ 1977 ] Walbaum et al., [ 1982 ] Blane et al.,

Journal

American Journal of Medical Genetics – Wiley

Published: Dec 18, 2000

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