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Scalp defect associated with postaxial polydactyly: confirmation of a distinct entity with autosomal dominant inheritance.

作者信息

Buttiëns M, Fryns J P, Jonckheere P, Brouckmans-Buttiëns K, Van den Berghe H

出版信息

Hum Genet. 1985;71(1):86-8. doi: 10.1007/BF00295675.

DOI:10.1007/BF00295675
PMID:4029956
Abstract

The association of postaxial polydactyly type A and congenital scalp defect in a 15-year-old severely mentally retarded male confirms the previously reported suggestion that the combination of both anomalies represents a new distinct entity with autosomal dominant inheritance and variable expression.

摘要

相似文献

1
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.
2
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本文引用的文献

1
The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs.
J Pediatr. 1975 Jul;87(1):79-82. doi: 10.1016/s0022-3476(75)80074-6.
2
Congenital scalp defects with distal limb anomalies: report of a family.先天性头皮缺损合并肢体远端畸形：一家系报告
J Med Genet. 1976 Dec;13(6):466-8. doi: 10.1136/jmg.13.6.466.
3
Hereditary aplasia cutis congenita and associated defects. Three instances in one family and a survey of reported cases.遗传性先天性皮肤发育不全及相关缺陷。一个家族中的三例病例及已报道病例的调查。
Clin Pediatr (Phila). 1977 Jul;16(7):610-4. doi: 10.1177/000992287701600705.
4
Autosomal dominant inheritance of scalp defects with ectrodactyly.
Am J Med Genet. 1979;3(1):35-41. doi: 10.1002/ajmg.1320030109.
5
Congenital scalp defects associated with postaxial polydactyly.与轴后多指畸形相关的先天性头皮缺损。
Hum Genet. 1979 Jun 19;49(2):217-9. doi: 10.1007/BF00277645.
6
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.