Agenesis of the Corpus Callosum and Congenital Lymphedema: A Novel Recognizable Syndrome?

被引：2

作者：

O'Driscoll, Mary C. ^{[1
,2
]}

Jenny, Kim ^{[3
]}

Saitta, Sulagna ^{[4
]}

Dobyns, William B. ^{[5
]}

Gripp, Karen W. ^{[3
]}

机构：

[1] Univ Manchester, Manchester Acad Hlth Sci Ctr, Cent Manchester Univ Hosp,Med Genet Res Grp, St Marys Hosp,NHS Fdn Trust, Manchester M13 9002, Lancs, England

[2] St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England

[3] Alfred I DuPont Hosp Children, Div Med Genet, Delaware, OH USA

[4] Childrens Hosp Philadelphia, Clin Genet Ctr, Philadelphia, PA 19104 USA

[5] Univ Chicago, Dept Human Genet Neurol & Pediat, Chicago, IL 60637 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 07期

关键词：

congenital lymphedema; agenesis of the corpus callosum; hypotonia; developmental delay; sacral dimple; AUTOSOMAL RECESSIVE SYNDROME; CHORIORETINAL DYSPLASIA; HEREDITARY LYMPHEDEMA; MUTATION; ANOMALIES; LYMPHANGIECTASIA; RETARDATION; FACIES;

D O I：

10.1002/ajmg.a.33200

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We present double first cousins, a girl and a boy, with the uncommon association of agenesis of the corpus callosum and congenital lymphedema. Other features shared by both include oligohydramnios, similar facial dysmorphism, sacral dimple, developmental delay, and sociable personality. While some of these findings overlap with FG syndrome and Hennekam syndrome, the findings in our patients are sufficiently different to exclude these diagnoses. We propose that this is a new syndrome with presumed autosomal recessive inheritance. (C) 2010 Wiley-Liss, Inc.

引用

页码：1621 / 1626

页数：6

共 39 条

[1]

Abdel-Salam GMH, 2000, AM J MED GENET, V95, P513, DOI 10.1002/1096-8628(20001218)95:5<513::AID-AJMG19>3.0.CO

[2]

2-J

[3]

Ainsworth SB, 1997, CLIN DYSMORPHOL, V6, P139

[4]

[Anonymous], 1898, PRESSE M D

[5]

AVASTHEY P, 1968, BRIT HEART J, V30, P769

[6] The FG syndrome: Report of a large Italian series [J].

Battaglia, A. ;

Chines, C. ;

Carey, J. C. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (19) :2075-2079

[7] Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26 [J].

Bayoumi, R ;

Saar, K ;

Lee, YA ;

Nürnberg, G ;

Reis, A ;

Nur-E-Kamal, M ;

Al-Gazali, LI .

JOURNAL OF MEDICAL GENETICS, 2001, 38 (06) :369-373

[8] Milroy disease and the VEGFR-3 mutation phenotype [J].

Brice, G ;

Child, AH ;

Evans, A ;

Bell, R ;

Mansour, S ;

Burnand, K ;

Sarfarazi, M ;

Jeffery, S ;

Mortimer, P .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (02) :98-102

[9] AUTOSOMAL OR X-LINKED RECESSIVE SYNDROME OF CONGENITAL LYMPHEDEMA, HYPOPARATHYROIDISM, NEPHROPATHY, PROLAPSING MITRAL-VALVE, AND BRACHYTELEPHALANGY [J].

DAHLBERG, PJ ;

BORER, WZ ;

NEWCOMER, KL ;

YUTUC, WR .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (01) :99-104

[10]

*DECIPHER, 2009, DAT CHROM IMB PHEN H

← 1 2 3 4 →