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Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.

作者信息

Elliott A M, Roeder E R, Witt D R, Rimoin D L, Lachman R S

机构信息

International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center, Los Angeles, California, USA.

出版信息

Am J Med Genet. 2000 Dec 18;95(5):496-506. doi: 10.1002/1096-8628(20001218)95:5<496::aid-ajmg16>3.0.co;2-e.

DOI:10.1002/1096-8628(20001218)95:5<496::aid-ajmg16>3.0.co;2-e
PMID:11146473
Abstract

We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of this entity is discussed along with possible inheritance patterns.

摘要

相似文献

1
Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder dysplasia) spectrum: three additional cases.
Am J Med Genet. 2000 Dec 18;95(5):496-506. doi: 10.1002/1096-8628(20001218)95:5<496::aid-ajmg16>3.0.co;2-e.
2
Autosomal dominant inheritance of scapuloiliac dysostosis.
Am J Med Genet. 2000 Dec 18;95(5):507-9.
3
Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome.纯合性 novel truncating mutation 证实 Cousin 综合征由 TBX15 缺陷引起。
Am J Med Genet A. 2013 Dec;161A(12):3161-5. doi: 10.1002/ajmg.a.36173. Epub 2013 Aug 16.
4
Pelvis-shoulder dysplasia.
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Scapuloiliac dysostosis.肩胛髂骨发育不全
Br J Radiol. 1984 Jun;57(678):526-8. doi: 10.1259/0007-1285-57-678-526.
6
[Pelvis-shoulder dysplasia].
Fortschr Geb Rontgenstr Nuklearmed. 1970 Jul;113(1):39-48.
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Miller postaxial acrofacial dysostosis syndrome. Follow-up data of a family and confirmation of autosomal recessive inheritance.米勒轴后性肢端面部发育不全综合征。一个家族的随访数据及常染色体隐性遗传的确认。
Clin Genet. 1993 May;43(5):270. doi: 10.1111/j.1399-0004.1993.tb03816.x.
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TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.
TBX15突变导致表亲综合征中的颅面畸形、肩胛骨和骨盆发育不全以及身材矮小。
Am J Hum Genet. 2008 Nov;83(5):649-55. doi: 10.1016/j.ajhg.2008.10.011.