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Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.

作者信息

Dodinval P

出版信息

Hum Genet. 1979 Apr 27;48(2):183-9. doi: 10.1007/BF00286902.

DOI:10.1007/BF00286902
PMID:222668
Abstract

Two sibs with a rare phenotype of oligodactyly with metacarpal, carpal, radioulnar, and metatarsal synostoses and shortening of the forearms were born of healthy parents. Genetic counselling with regard to future children of one of these sibs was given on the assumption of an autosomal recessive inheritance, which is highly probable, judging from the other rare familial cases found in the literature.

摘要

相似文献

1
Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly.
Hum Genet. 1979 Apr 27;48(2):183-9. doi: 10.1007/BF00286902.
2
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本文引用的文献

1
[The oligodactylia syndrome in human and its parallel mutation in the house mouse; an abnormality complex with ulnar aplasia, reduction of the ulnar marginal rays and anomalies of the intermaxillary bone, sternum, kidneys and spleen].[人类的少指(趾)畸形综合征及其在家鼠中的平行突变;一种伴有尺骨发育不全、尺侧边缘射线减少以及颌间骨、胸骨、肾脏和脾脏异常的复合畸形]
Ann Paediatr. 1957 Dec;189(6):351-70.
2
[Observation of a coarse malformation of the hand in the first generation & a bilateral radio-ulnar synostosis in the second one].[第一代中手部的粗大畸形及第二代中的双侧桡尺骨融合的观察]
Fortschr Geb Rontgenstr Nuklearmed. 1957 Aug;87(2):274-6.
3
Radioulnar synostosis, behavioral disturbance, and XYY chromosomes.
桡尺骨骨性连接、行为障碍与XYY染色体
J Pediatr. 1969 Jan;74(1):103-6. doi: 10.1016/s0022-3476(69)80014-4.
4
Congenital radio-ulnar synostosis. Report of 37 cases.先天性桡尺骨融合。37例报告。
Acta Orthop Scand. 1970;41(3):225-30. doi: 10.3109/17453677008991509.
5
[Total syndactylia and total radioulnar synostosis in 2 brothers. A contribution on the genetics of syndactylia].
Z Kinderheilkd. 1967;101(3):181-90.
6
Split-hand and split-foot deformity inherited as an autosomal recessive trait.裂手裂足畸形以常染色体隐性性状遗传。
Clin Genet. 1976 Jan;9(1):8-14. doi: 10.1111/j.1399-0004.1976.tb01543.x.
7
Congenital fusion of bones: radiology, embryology and pathogenesis.先天性骨融合:放射学、胚胎学及发病机制
Clin Radiol. 1975 Jan;26(1):47-51. doi: 10.1016/s0009-9260(75)80011-0.
8
Familial radioulnar synostosis.家族性桡尺骨融合
J Med Genet. 1978 Apr;15(2):160-2. doi: 10.1136/jmg.15.2.160.
9
Limb anomalies in chromosomal aberrations.染色体畸变中的肢体异常。
Birth Defects Orig Artic Ser. 1977;13(1):319-37.
10
The genetics of hand malformations.手部畸形的遗传学
Birth Defects Orig Artic Ser. 1978;14(3):i-xviii, 1-619.