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正中面裂综合征合并脑积水、胼胝体发育不全、前脑无裂畸形和后鼻孔闭锁。

Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia.

作者信息

Bömelburg T, Lenz W, Eusterbrock T

出版信息

Eur J Pediatr. 1987 May;146(3):301-2. doi: 10.1007/BF00716480.

DOI:10.1007/BF00716480
PMID:3595651
Abstract

A premature female infant had the characteristic features of the median cleft face syndrome in association with holoprosencephaly, agenesis of the corpus callosum, hydrocephalus and choanal atresia. Whereas the nervous system is rarely affected in patients with the median cleft face syndrome, severe mental retardation has been reported in three previously published cases and is suggested in our own patient. All had an associated agenesis of the corpus callosum.

摘要

一名早产女婴具有正中面裂综合征的特征性表现,同时伴有前脑无裂畸形、胼胝体发育不全、脑积水和后鼻孔闭锁。正中面裂综合征患者的神经系统很少受累,但在之前发表的3例病例中报告了严重智力发育迟缓,我们的患者也有此迹象。所有病例均伴有胼胝体发育不全。

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1
Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia.正中面裂综合征合并脑积水、胼胝体发育不全、前脑无裂畸形和后鼻孔闭锁。
Eur J Pediatr. 1987 May;146(3):301-2. doi: 10.1007/BF00716480.
2
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Acta Neuropathol. 1981;55(1):1-10. doi: 10.1007/BF00691523.
3
Partial trisomy 6p with agenesis of the corpus callosum and choanal atresia.6号染色体短臂部分三体伴胼胝体发育不全及后鼻孔闭锁。
J Child Neurol. 1992 Jan;7(1):114-6. doi: 10.1177/088307389200700120.
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Aicardi syndrome with holoprosencephaly and cleft lip and palate.伴有全前脑畸形及唇腭裂的艾卡迪综合征。
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[Holoprosencephaly. Presentation of a case and review of the literature].
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Holoprosencephaly: variation of expression in face and brain in three sibs.前脑无裂畸形:三例同胞面部和脑部的表达变异
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本文引用的文献

1
THE FACE PREDICTS THE BRAIN: DIAGNOSTIC SIGNIFICANCE OF MEDIAN FACIAL ANOMALIES FOR HOLOPROSENCEPHALY (ARHINENCEPHALY).面部预示大脑:正中面部异常对全前脑畸形(无脑回畸形)的诊断意义。
Pediatrics. 1964 Aug;34:256-63.
2
[Hypertelorism; relation of pathologically enlarged distance between the eyes to cerebrocranial dysraphia and turricephalic cranial dysostosis].[眼距过宽;病理性眼间距增宽与脑颅闭合不全及尖头颅性颅骨发育不全的关系]
Ophthalmologica. 1956 Mar;131(3):137-56. doi: 10.1159/000302807.
3
Frontofacionasal dysplasia: evidence for autosomal recessive inheritance.
额面鼻发育异常:常染色体隐性遗传的证据。
Am J Med Genet. 1984 Oct;19(2):301-5. doi: 10.1002/ajmg.1320190212.
4
The median cleft face syndrome. Differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate.正中裂面综合征。隐性颅裂、眼距过宽以及正中裂鼻、唇和腭裂的鉴别诊断。
Neurology. 1967 Oct;17(10):961-71. doi: 10.1212/wnl.17.10.961.
5
Frontonasal dysplasia.额鼻发育异常
J Pediatr. 1970 Jun;76(6):906-13. doi: 10.1016/s0022-3476(70)80374-2.
6
Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling.同父异母姐妹中的面中部裂综合征。遗传咨询中的困境。
Teratology. 1973 Dec;8(3):273-85. doi: 10.1002/tera.1420080307.
7
Agenesis of the corpus callosum in the median facial cleft syndrome and associated ocular malformations.正中面部裂综合征中的胼胝体发育不全及相关眼部畸形
Am J Ophthalmol. 1973 Aug;76(2):241-5. doi: 10.1016/0002-9394(73)90168-2.
8
Fronto-nasal dysplasia and lipoma of the corpus callosum.额鼻发育不全与胼胝体脂肪瘤。
Eur J Pediatr. 1985 May;144(1):66-71. doi: 10.1007/BF00491930.
9
[Holoprosencephaly--clinical picture and genetic counseling in 6 cases].
Klin Padiatr. 1985 Jan-Feb;197(1):50-7. doi: 10.1055/s-2008-1033926.