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1
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.
2
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.
3
Congenital scalp defect with distal limb anomalies: brachydactyly and hypoplastic toes.先天性头皮缺损伴肢体远端畸形：短指畸形和脚趾发育不全。
Plast Reconstr Surg. 1983 Nov;72(5):708-12. doi: 10.1097/00006534-198311000-00026.
4
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.
5
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature.
Am J Med Genet. 1988 Sep;31(1):99-115. doi: 10.1002/ajmg.1320310112.
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Terminal transverse defects with aplasia cutis congenita (Adams-Oliver syndrome).
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7
Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance.伴有肢体远端畸形的先天性头皮颅骨缺损（亚当斯 - 奥利弗综合征——麦库西克编号10030）：常染色体隐性遗传的进一步证据
Am J Med Genet. 1988 Feb;29(2):263-8. doi: 10.1002/ajmg.1320290203.
8
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance.先天性头皮缺损伴肢体远端畸形（亚当斯 - 奥利弗综合征 - 麦库西克10030型）：常染色体隐性遗传的进一步提示
Am J Med Genet. 1989 Feb;32(2):266-7. doi: 10.1002/ajmg.1320320230.
9
The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism.亚当斯-奥利弗综合征中环状缩窄的并发：血管破坏作为常见发病机制的更多证据。
Genet Couns. 1999;10(3):295-300.
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Adams Oliver syndrome: a family with extreme variability in clinical expression.亚当斯-奥利弗综合征：一个临床表现具有极大变异性的家系。
Am J Med Genet. 1994 Feb 15;49(4):393-6. doi: 10.1002/ajmg.1320490408.

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Congenital diseases caused by defective -glycosylation of Notch receptors.由Notch受体糖基化缺陷引起的先天性疾病。
Nagoya J Med Sci. 2018 Aug;80(3):299-307. doi: 10.18999/nagjms.80.3.299.
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The multiple roles of epidermal growth factor repeat O-glycans in animal development.表皮生长因子重复序列O-聚糖在动物发育中的多重作用。
Glycobiology. 2015 Oct;25(10):1027-42. doi: 10.1093/glycob/cwv052. Epub 2015 Jul 14.
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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.
5
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.
6
Anomalous inheritance in a kindred with split hand, split foot malformation.一例患有并指（趾）畸形家族中的异常遗传。
Eur J Pediatr. 1988 Feb;147(2):202-5. doi: 10.1007/BF00442225.
7
Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases.伴有末端横断肢体畸形的先天性头皮和颅骨缺损（亚当斯-奥利弗综合征）：另外三例报告
Eur J Pediatr. 1990 May;149(8):565-6. doi: 10.1007/BF01957693.
8
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.

本文引用的文献

1
Congenital defect of the scalp; with a note on the closure of large scalp defects in general.头皮先天性缺陷；附关于一般大型头皮缺损闭合的说明。
Plast Reconstr Surg (1946). 1950 Dec;6(6):435-40.
2
CONGENITAL SCALP DEFECTS IN FATHER AND SON.父子先天性头皮缺损
Am J Dis Child. 1965 Sep;110:297-8. doi: 10.1001/archpedi.1965.02090030311014.
3
CONGENITAL SCALP DEFECTS IN TWIN SISTERS.双胞胎姐妹的先天性头皮缺损
Am J Dis Child. 1965 Sep;110:293-5. doi: 10.1001/archpedi.1965.02090030307013.
4
Congenital absence of skin.先天性皮肤缺失
Plast Reconstr Surg Transplant Bull. 1960 Apr;25:291-7. doi: 10.1097/00006534-196004000-00001.
5
Congenital absence of skin (aplasia cutis congenita).先天性皮肤缺失（先天性皮肤发育不全）。
Plast Reconstr Surg Transplant Bull. 1960 Aug;26:209-18. doi: 10.1097/00006534-196008000-00007.
6
Congenital scalp defects in mother and child.母婴先天性头皮缺损。
Am J Dis Child. 1967 May;113(5):597-9. doi: 10.1001/archpedi.1967.02090200129018.
7
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.

先天性头皮缺损合并肢体远端畸形：一家系报告

Congenital scalp defects with distal limb anomalies: report of a family.

作者信息

Burton B K, Hauser L, Nadler H L

出版信息

J Med Genet. 1976 Dec;13(6):466-8. doi: 10.1136/jmg.13.6.466.

DOI:10.1136/jmg.13.6.466
PMID:1018305
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013472/
Abstract

A family is reported in which the syndrome of congenital scalp defect with distal limb anomalies is expressed in several members. This provides additional evidence for the autosomal dominant inheritance of this disorder.

摘要

据报道，有一个家族中，多名成员表现出先天性头皮缺损伴肢体远端畸形综合征。这为该疾病的常染色体显性遗传提供了额外证据。