New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.
作者信息
Giuffrè L, Corsello G, Giuffrè M, Piccione M, Albanese A
机构信息
Istituto Materno Infantile, Università di Palermo, Italy.
出版信息
Am J Med Genet. 1994 Jul 1;51(3):266-9. doi: 10.1002/ajmg.1320510319.
PMID:8074157
Abstract
To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1).
摘要
相似文献
1
New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis.
Am J Med Genet. 1994 Jul 1;51(3):266-9. doi: 10.1002/ajmg.1320510319.
2
3
Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation.威廉姆斯-贝伦综合征中的桡尺骨融合：一种组成性表现。
Am J Med Genet. 1993 Mar 15;45(6):783. doi: 10.1002/ajmg.1320450625.
4
Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome.
Am J Med Genet. 1992 Aug 1;43(6):942-5. doi: 10.1002/ajmg.1320430607.
5
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder.远端无指骨、并指畸形及额外跖骨，伴身材矮小、小头畸形及边缘智力：一种新的常染色体显性遗传病。
Am J Med Genet. 1995 Jan 16;55(2):213-6. doi: 10.1002/ajmg.1320550212.
6
Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation.
Am J Med Genet. 1998 Dec 28;80(5):526-8.
7
A case with bilateral radio-ulnar synostosis.一例双侧桡尺骨融合病例。
Genet Couns. 2008;19(2):193-8.
8
Radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation.
Am J Med Genet. 1995 Aug 28;58(2):159-60. doi: 10.1002/ajmg.1320580214.
9
Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder.显性中肢发育不良、踝关节、腕骨和跗骨融合型：一种新的常染色体显性骨病。
Am J Med Genet. 1992 Dec 1;44(6):730-7. doi: 10.1002/ajmg.1320440606.
10
[On 2 cases of congenital radio-ulnar synostosis].
Ann Radiol Diagn (Bologna). 1969 Feb;42(1):3-12.
Zotero 插件