Median facial cleft syndrome in half-sisters. Dilemmas in genetic counseling.
作者信息
Warkany J, Bofinger M K, Benton C
出版信息
Teratology. 1973 Dec;8(3):273-85. doi: 10.1002/tera.1420080307.
PMID:4767905
Abstract
摘要
相似文献
1
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.
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Acromelic frontonasal dysostosis.肢端肥大性额鼻发育不全
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Syndrome of a craniofacial dysostosis, limb malformation, and omphalocele.一种颅面骨发育不全、肢体畸形和脐膨出综合征。
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N--variable expressivity in craniocarpotarsal dysplasia.N——颅腕跗骨发育异常中的可变表达。
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[The place of cranio-facial malformations in genetic counseling].[颅面畸形在遗传咨询中的地位]
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Familial polysyndactyly and craniofacial anomalies.
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[Chromosomal studies in craniofacial abnormalities].
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8
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome.一种先前未被描述的常染色体隐性多发性先天性畸形/智力发育迟缓（MCA/MR）综合征，伴有额鼻发育不全、唇腭裂、肢体发育不全和轴后多指（趾）畸形：肢-额-面-鼻发育不全综合征。
Am J Med Genet. 1985 Apr;20(4):631-8. doi: 10.1002/ajmg.1320200409.
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[Hypertelorism and other congenital malformations in a family].[一个家族中的眼距过宽及其他先天性畸形]
J Genet Hum. 1973 Dec;21(4):237-78.
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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.
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Misexpression of Six2 is associated with heritable frontonasal dysplasia and renal hypoplasia in 3H1 Br mice.Six2的错误表达与3H1 Br小鼠的遗传性额鼻发育异常和肾发育不全有关。
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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.
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