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先天性头皮缺损伴远端肢体短小畸形。

Congenital scalp defect with distal limb reduction anomalies.

作者信息

Fryns J P, Corbeel L, Van den Berghe H

出版信息

Eur J Pediatr. 1977 Nov 4;126(4):289-95. doi: 10.1007/BF00477056.

DOI:10.1007/BF00477056
PMID:201465
Abstract

Congenital scalp defects and distal limb reduction anomalies can occur as separate entities or in combination with other anomalies. They also occur together in an apparently autosomal dominant syndrome, an example of which is described in the present paper. The literature on the subject is reviewed.

摘要

先天性头皮缺损和肢体远端短小畸形可单独出现,也可与其他畸形合并出现。它们还会在一种明显的常染色体显性综合征中共同出现,本文将介绍其中一个例子。本文对该主题的文献进行了综述。

相似文献

1
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.
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 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.
5
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.
6
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.
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
Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature.上皮发育不全、并指(趾)畸形和耳部畸形——头皮-耳-乳头综合征的一种变异型?:病例报告及文献复习
Am J Med Genet A. 2005 Apr 15;134A(2):220-2. doi: 10.1002/ajmg.a.30612.
9
Familial polysyndactyly and craniofacial anomalies.
Clin Genet. 1972;3(2):128-34. doi: 10.1111/j.1399-0004.1972.tb01734.x.
10
Facial clefts and associated limb anomalies: description of three cases and a review of the literature.
Cleft Palate Craniofac J. 2010 Nov;47(6):661-7. doi: 10.1597/09-033. Epub 2010 Mar 31.

引用本文的文献

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
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.
3
Congenital scalp defects associated with postaxial polydactyly.与轴后多指畸形相关的先天性头皮缺损。

本文引用的文献

1
Hereditary skin defects in the newborn infant.新生儿遗传性皮肤缺陷。
J Pediatr. 1945 Dec;27:591-4. doi: 10.1016/s0022-3476(45)80016-1.
2
Congenital skin defect of the newborn.新生儿先天性皮肤缺损
Arch Dis Child. 1948 Sep;23(115):190-3. doi: 10.1136/adc.23.115.190.
3
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。
Hum Genet. 1979 Jun 19;49(2):217-9. doi: 10.1007/BF00277645.
Plast Reconstr Surg (1946). 1950 Dec;6(6):435-40.
4
Masklike facies with associated congenital anomalies (mōbius syndrome); report of three cases.伴有相关先天性异常的面具样面容(莫比乌斯综合征);三例报告。
J Pediatr. 1955 Mar;46(3):255-61. doi: 10.1016/s0022-3476(55)80278-8.
5
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.
6
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.
7
CONGENITAL ABSENCE OF SKIN: PATHOGENESIS AND RELATION TO RING-CONSTRICTION.先天性皮肤缺失:发病机制及其与环状缩窄的关系。
Acta Chir Scand. 1963 Nov;126:388-96.
8
Ankyloglossia superior (palato-glossal adhesion in the newborn infant).舌系带过短(新生儿腭舌粘连)。
Pediatrics. 1963 Jun;31:1051-4.
9
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.
10
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.