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与轴后多指畸形相关的先天性头皮缺损。

Congenital scalp defects associated with postaxial polydactyly.

作者信息

Fryns J P, Van den Berghe H

出版信息

Hum Genet. 1979 Jun 19;49(2):217-9. doi: 10.1007/BF00277645.

DOI:10.1007/BF00277645
PMID:468253
Abstract

A family is reported, several members of which had congenital scalp defects and postaxial polydactyly type A, with wide variability of expression. The hypothesis is formulated that this association is not fortuitous, but is a distinct malformation complex in which congenital scalp defects are associated with distinct malformation of the limbs.

摘要

据报道，有一个家族，其中几名成员患有先天性头皮缺损和A型轴后多指畸形，表现出广泛的变异性。有人提出这样的假说，即这种关联并非偶然，而是一种独特的畸形综合征，其中先天性头皮缺损与四肢的明显畸形相关联。

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Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance.
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引用本文的文献

1
Aplasia cutis congenita.先天性皮肤发育不全
Indian J Pediatr. 2000 Aug;67(8):599-600. doi: 10.1007/BF02758494.
2
Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance.
Hum Genet. 1985;71(1):86-8. doi: 10.1007/BF00295675.
3
Congenital scalp defects with distal limb reduction anomalies.先天性头皮缺损伴远端肢体发育不全畸形
J Med Genet. 1987 Aug;24(8):493-6. doi: 10.1136/jmg.24.8.493.

本文引用的文献

1
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.
2
Congenital scalp defect with distal limb reduction anomalies.先天性头皮缺损伴远端肢体短小畸形。
Eur J Pediatr. 1977 Nov 4;126(4):289-95. doi: 10.1007/BF00477056.