另一例患有皮特 - 罗杰斯 - 丹克斯综合征的患者，该综合征表现为智力发育迟缓、面容异常及宫内生长迟缓。
A further patient with the Pitt-Rogers-Danks syndrome of mental retardation, unusual face, and intrauterine growth retardation.
作者信息
Donnai D
出版信息
Am J Med Genet. 1986 May;24(1):29-32. doi: 10.1002/ajmg.1320240105.
PMID:3706410
Abstract
A further case of a syndrome of pre- and postnatal growth retardation, characteristic face, and unusual palmar creases is described. This child also had hypoplasia of labia majora and minora, deafness, and head nodding. Apparently sporadic occurrence in this family does not rule out autosomal recessive inheritance of this syndrome first described by Pitt, Rogers, and Danks in 1984.
摘要
本文描述了另一例患有产前和产后生长发育迟缓、特殊面容以及异常掌纹综合征的病例。该患儿还存在大阴唇和小阴唇发育不全、耳聋以及点头症状。此家族中明显的散发病例并不排除这种1984年由皮特、罗杰斯和丹克斯首次描述的综合征为常染色体隐性遗传。
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引用本文的文献
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Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.
J Med Genet. 1997 Sep;34(9):719-28. doi: 10.1136/jmg.34.9.719.
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Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome are caused by a deletion in the same region on chromosome 4p 16.3.
J Med Genet. 1997 Jul;34(7):569-72. doi: 10.1136/jmg.34.7.569.
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