A case of the new overgrowth syndrome - macrocephaly with cutis marmorata, haemangioma and syndactyly

被引：9

作者：

Baralle, D ^{[1
]}

Firth, H ^{[1
]}

机构：

[1] Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 2QQ, England

来源：

CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 03期

关键词：

overgrowth; macrocephaly; haemangioma; cutis marmorata; syndactyly;

D O I：

10.1097/00019605-200009030-00011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Moore et al. [(1997) J Med Genet 70:67-73] and Clayton-Smith et al. [(1997) Clin Dysmorphol 6:291-302] have recently described a new overgrowth syndrome with macrocephaly, cutis marmorata, haemangiomas and digit syndactyly. Other features have included body asymmetry, hydrocephalus requiring shunting and developmental delay. All 22 cases reported are sporadic. We report a further case of this rare syndrome. Clin Dysmorphol 9: 209-211 (C) 2000 Lippincott Williams & Wilkins.

引用

页码：209 / 211

页数：3

共 7 条

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Tranebjaerg, L ;

Magee, A ;

Hennekam, RCM ;

Mueller, RF ;

Brueton, L ;

Super, M ;

SteenJohnsen, J ;

Donnai, D .

CLINICAL DYSMORPHOLOGY, 1997, 6 (04) :291-302

[2]

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