[A dominant syndrome associated with polysyndactyly, spatule thumb, facial abnormalities, and mental retardation. (A particular form of Noack's acrocephalosyndactylia)].
作者信息
Gnamey D, Farriaux J P
出版信息
J Genet Hum. 1971 Dec;19(4):299-316.
PMID:5152131
Abstract
摘要
相似文献
1
2
Associated acral and renal malformations: a new syndrome?
Pediatrics. 1972 May;49(5):716-25.
3
Acrocephalopolysyndactyly, type II (Carpenter syndrome).Ⅱ型尖头并指（趾）畸形（卡彭特综合征）。
Am J Dis Child. 1972 Nov;124(5):716-8. doi: 10.1001/archpedi.1972.02110170094015.
4
[Rubinstein-Taybi syndrome of broad thumbs and broad big toes with cranio-mandibulo-facial malformations and mental retardation].
Arch Kinderheilkd. 1969 May;179(1):78-90.
5
Pfeiffer syndrome. An unusual type of acrocephalosyndactyly with broad thumbs and great toes.法伊弗综合征。一种不寻常的尖头并指（趾）畸形，伴有宽阔的拇指和大脚趾。
Am J Dis Child. 1971 Mar;121(3):257-62.
6
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.费城型颅缝早闭：一种新的常染色体显性综合征，伴有矢状缝颅缝早闭及手指和脚趾并指（趾）畸形。
Am J Med Genet. 1996 Mar 15;62(2):184-91. doi: 10.1002/(SICI)1096-8628(19960315)62:2<184::AID-AJMG13>3.0.CO;2-K.
7
Familial absence of middle phalanges with nail dysplasia: a new syndrome.伴有指甲发育异常的家族性中节指骨缺失：一种新综合征。
Pediatrics. 1968 Aug;42(2):318-23.
8
Mental retardation with absent fifth fingernail and terminal phalanx.智力发育迟缓伴第五指指甲和末节指骨缺如。
Am J Dis Child. 1970 May;119(5):433-9. doi: 10.1001/archpedi.1970.02100050435009.
9
10
Otopalatodigital syndrome: radiologic findings in the hand and foot.耳腭指综合征：手足部的放射学表现
Birth Defects Orig Artic Ser. 1974;10(5):125-39.
引用本文的文献
1
Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.与7号染色体短臂间质缺失相关的Greig综合征：Greig综合征定位于7p13的确认。
Hum Genet. 1991 Aug;87(4):452-6. doi: 10.1007/BF00197167.
Zotero 插件