一种伴有肱骨近端短小及其他畸形的新型骨骼发育异常综合征。
A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations.
作者信息
Urbach D, Hertz M, Shein M, Goodman R M
出版信息
Clin Genet. 1986 Jan;29(1):83-7. doi: 10.1111/j.1399-0004.1986.tb00775.x.
Abstract
An Arab family is reported in which the proband and two affected sibs had bilateral rhizomelia of the humerus and other skeletal, craniofacial and cardiac abnormalities. Since all three affected sibs died during early childhood, this may be a lethal condition. We believe this constellation of findings which has not been previously described represents a new syndrome, most probably transmitted as an autosomal recessive disorder.
摘要
据报道，一个阿拉伯家庭中，先证者和两名患病同胞患有双侧肱骨近端短小症以及其他骨骼、颅面和心脏异常。由于所有三名患病同胞均在幼儿期死亡，这可能是一种致死性疾病。我们认为，这组此前未被描述过的临床表现代表了一种新的综合征，很可能以常染色体隐性疾病的方式遗传。
相似文献
1
A new skeletal dysplasia syndrome with rhizomelia of the humeri and other malformations.一种伴有肱骨近端短小及其他畸形的新型骨骼发育异常综合征。
Clin Genet. 1986 Jan;29(1):83-7. doi: 10.1111/j.1399-0004.1986.tb00775.x.
2
Partial duplication of the eyebrows with other congenital malformations: a new syndrome.
Clin Genet. 1988 Mar;33(3):207-10. doi: 10.1111/j.1399-0004.1988.tb03438.x.
3
Autosomal recessive omodysplasia.常染色体隐性遗传型骨发育不全症。
Ann Genet. 1995;38(2):97-101.
4
Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.常染色体隐性遗传的巨头畸形、多发性骨骺发育不良及特殊面容综合征。
Clin Dysmorphol. 1998 Jul;7(3):177-84. doi: 10.1097/00019605-199807000-00004.
5
Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.常染色体隐性遗传的唇腭裂、外胚层发育不良及轻微肢端异常：一个巴西家庭的报告
Am J Med Genet. 1992 Sep 15;44(2):158-62. doi: 10.1002/ajmg.1320440208.
6
Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.同胞中因Monro孔阻塞导致的双侧感音神经性耳聋和脑积水：一种新描述的常染色体隐性疾病。
Am J Med Genet. 1997 Jan 31;68(3):350-6. doi: 10.1002/(sici)1096-8628(19970131)68:3<350::aid-ajmg19>3.0.co;2-s.
7
Humero-radial synostosis with ulnar defects in sibs.同胞中出现的伴有尺骨缺损的肱桡关节融合。
Am J Med Genet. 1989 Jun;33(2):176-9. doi: 10.1002/ajmg.1320330207.
8
Lethal micromelic short-rib skeletal dysplasia with triangular-shaped humerus.致死性微肢短小肋骨型骨骼发育不良伴三角形肱骨。
Pediatr Radiol. 1999 Nov;29(11):835-7. doi: 10.1007/s002470050707.
9
A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs.两例患有多种先天性畸形的同胞出现一种新的白色额发（白发症）综合征。
Clin Genet. 1980 Jun;17(6):437-42. doi: 10.1111/j.1399-0004.1980.tb00177.x.
10
Parental consanguinity in two sibs with omodysplasia.两名患有骨发育异常综合征的同胞的父母近亲结婚情况。
Am J Med Genet. 1994 Feb 1;49(3):263-5. doi: 10.1002/ajmg.1320490303.
引用本文的文献
1
Recessive omodysplasia: five new cases and review of the literature.隐性骨发育不全：5例新病例及文献复习
Pediatr Radiol. 2004 Jan;34(1):75-82. doi: 10.1007/s00247-003-1064-9. Epub 2003 Oct 18.
2
Russell-Silver Syndrome in a Nigerian infant with intrauterine growth retardation.一名患有宫内生长迟缓的尼日利亚婴儿患罗素-西尔弗综合征。
J Natl Med Assoc. 2001 May;93(5):185-94.
3
Two brothers with heart defects and limb shortening: case reports and review.两例患有心脏缺陷和肢体短小的兄弟病例报告及文献综述
J Med Genet. 1990 Dec;27(12):746-51. doi: 10.1136/jmg.27.12.746.
Zotero 插件