Pierpont Syndrome: A Collaborative Study

被引：15

作者：

Wright, Emma M. M. Burkitt ^{[1
,2
]}

Suri, Mohnish ^{[3
]}

White, Susan M. ^{[4
,5
,6
]}

de Leeuw, Nicole ^{[7
]}

Vulto-van Silfhout, Anneke T. ^{[7
]}

Stewart, Fiona ^{[8
]}

McKee, Shane ^{[8
]}

Mansour, Sahar ^{[9
]}

Connell, Fiona C. ^{[10
]}

Chopra, Maya ^{[11
]}

Kirk, Edwin P. ^{[11
]}

Devriendt, Koen ^{[12
]}

Reardon, Willie ^{[13
]}

Brunner, Han ^{[5
]}

Donnai, Dian ^{[1
,2
]}

机构：

[1] St Marys Hosp, Cent Manchester Univ Hosp NHS Fdn Trust, Manchester M13 9WL, Lancs, England

[2] Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester, Lancs, England

[3] Nottingham Univ Hosp NHS Trust, Clin Genet Serv, Nottingham, England

[4] Royal Childrens Hosp, Genet Hlth Serv Victoria, Parkville, Vic 3052, Australia

[5] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

[6] Royal Childrens Hosp, Murdoch Childrens Res Inst, Melbourne, Vic, Australia

[7] Radboud Univ Nijmegen, Med Ctr, NL-6525 ED Nijmegen, Netherlands

[8] Belfast City Hosp, Belfast BT9 7AD, Antrim, North Ireland

[9] Univ London St Georges Hosp, SW Thames Reg Genet Serv, London, England

[10] Guys Hosp, SE Thames Reg Genet Serv, London SE1 9RT, England

[11] Sydney Childrens Hosp, Dept Med Genet, Randwick, NSW, Australia

[12] Katholieke Univ Leuven, Dept Menselijke Erfelijkheid, Louvain, Belgium

[13] Our Ladys Hosp Sick Children, Dublin, Ireland

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 09期

关键词：

Pierpont syndrome; fetal digital pads; plantar fat pads; learning disability; DEVELOPMENTAL DELAY; PLANTAR LIPOMATOSIS; PHENOTYPE; MUTATIONS;

D O I：

10.1002/ajmg.a.34147

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

Pierpont syndrome is a multiple congenital anomaly syndrome with learning disability first described in 1998. There are only three patients with Pierpont syndrome who have previously been published in the literature. Details of a series of patients with features of this condition were therefore obtained retrospectively to better characterize its key features. These patients were noted to have distinctive shared facial characteristics, in addition to plantar fat pads and other limb abnormalities. Further individuals with equally striking hand and foot findings were identified whose facies were less characteristic, and hence we considered them unlikely to be affected with the same condition. Despite several patients with possible Pierpont syndrome having had high-resolution array CGH or SNP array, the etiology of this phenotype remains unknown. Whilst it is as yet unclear whether it is a single entity, there appears to be a group of patients in whom Pierpont syndrome may be a recognizable condition, with typical facies, particularly when smiling, and characteristic hand and foot findings. (C) 2011 Wiley-Liss, Inc.

引用

页码：2203 / 2211

页数：9

共 9 条

[1]

Kabuki syndrome: a review [J].