Cantu syndrome and lymphoedema

被引：18

作者：

Garcia-Cruz, Diana ^{[1
]}

Mampel, Alejandra ^{[7
]}

Echeverria, Maria I. ^{[7
]}

Vargas, Ana L. ^{[7
]}

Castaneda-Cisneros, Gema ^{[3
]}

Davalos-Rodriguez, Nory

Patino-Garcia, Brenda ^{[4
]}

Garcia-Cruz, Maria O. ^{[5
]}

Castaneda, Victor ^{[3
]}

Cardona, Ernesto G. ^{[6
]}

Marin-Solis, Bertha ^{[3
]}

Cantu, Jose M.

Nunez-Reveles, Nelly

Moran-Moguel, Cristina ^{[4
]}

Thavanati, Pavarthi K. R.

Ramirez-Garcia, Sergio ^{[2
]}

Sanchez-Corona, Jose ^{[4
]}

机构：

[1] Univ Guadalajara, Inst Genet Humana Dr Enrique Corona Rivera, Dept Biol Mol & Genom, Ctr Univ Ciencias Salud, Guadalajara 44340, Jalisco, Mexico

[2] Univ Guadalajara, Inst Enfermedades Cronicodegenerativas, Dept Biol Mol & Genom, Ctr Univ Ciencias Salud, Guadalajara 44340, Jalisco, Mexico

[3] Hosp Especialidades Ctr Med La Raza, CMNO, Guadalajara, Jalisco, Mexico

[4] IMSS, CMNO, CIBO, Div Mol Med, Guadalajara, Jalisco, Mexico

[5] Hosp Gen Reg 46, Guadalajara, Jalisco, Mexico

[6] Hosp Gen Reg 45, IMSS, Guadalajara, Jalisco, Mexico

[7] Univ Nacl Cuyo, Inst Genet, Fac Ciencias Med, RA-5500 Mendoza, Argentina

来源：

CLINICAL DYSMORPHOLOGY | 2011年 / 20卷 / 01期

关键词：

Cantu syndrome; congenital generalized hypertrichosis; heterochromia iridis; lymphoedema; OSTEOCHONDRODYSPLASIA; ANOMALIES;

D O I：

10.1097/MCD.0b013e32833d015c

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Three female patients with Cantu syndrome were studied, two of whom were adults presenting with the complication of lymphoedema, as described earlier in a male patient with this syndrome. The aim of this study is to report the clinical characteristics of these three new cases and to emphasize that lymphoedema, as observed in two of the patients described here, has been observed in 11.5% of patients with Cantu syndrome and that heterochromia iridis, observed in one patient, is probably a new feature of this condition. Clin Dysmorphol 20:32-37 (C) 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins.

引用

页码：32 / 37

页数：6

共 8 条

[1]

[Anonymous], 2010, ONLINE MENDELIAN INH

[2] A DISTINCT OSTEOCHONDRODYSPLASIA WITH HYPER-TRICHOSIS - INDIVIDUALIZATION OF A PROBABLE AUTOSOMAL RECESSIVE ENTITY [J].

CANTU, JM ;

GARCIACRUZ, D ;

SANCHEZCORONA, J ;

HERNANDEZ, A ;

NAZARA, Z .

HUMAN GENETICS, 1982, 60 (01) :36-41

[3] 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

[4]

GarciaCruz D, 1997, AM J MED GENET, V69, P138, DOI 10.1002/(SICI)1096-8628(19970317)69:2<138::AID-AJMG5>3.0.CO

[5]

2-L

[6] Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations [J].

Grange, Dorothy K. ;

Lorch, Steven M. ;

Cole, Patricia L. ;

Singh, Gautam K. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (15) :1673-1680

[7] AUTOSOMAL RECESSIVE INTESTINAL LYMPHANGIECTASIA AND LYMPHEDEMA, WITH FACIAL ANOMALIES AND MENTAL-RETARDATION [J].

HENNEKAM, RCM ;

GEERDINK, RA ;

HAMEL, BCJ ;

HENNEKAM, FAM ;

KRAUS, P ;

RAMMELOO, JA ;

TILLEMANS, AAW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04) :593-600

[8] PERSISTENCE OF MULLERIAN DERIVATIVES, LYMPHANGIECTASIS, HEPATIC-FAILURE, POSTAXIAL POLYDACTYLY, RENAL AND CRANIOFACIAL ANOMALIES [J].

URIOSTE, M ;

RODRIGUEZ, JI ;

BARCIA, JM ;

MARTIN, M ;

ESCRIBA, R ;

PARDO, M ;

CAMINO, J ;

MARTINEZFRIAS, ML .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 47 (04) :494-503

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