Gillespie syndrome: 2 familial cases

被引：6

作者：

Boughamoura, L. ^{[1
]}

Yacoub, M. ^{[1
]}

Abroug, M. ^{[1
]}

Chabchoub, I. ^{[1
]}

Bouguezzi, R. ^{[1
]}

Charfeddine, L. ^{[1
]}

Amri, F. ^{[1
]}

Essoussi, A. -S. ^{[1
]}

机构：

[1] Hop Farhat Hached, Serv Pediat, Sousse 4000, Tunisia

来源：

ARCHIVES DE PEDIATRIE | 2006年 / 13卷 / 10期

关键词：

aniridia; cerebellar ataxia; mental retardation; syndrome;

D O I：

10.1016/j.arcped.2006.06.028

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

We report 2 familial cases of Gillespie syndrome in an 8-year-old girl and her brother 16 months old. They had both congenital aniridia, cerebellar ataxia and mental retardation. In the girl, pupillar dilation in the 2 eyes and delay in different milestones development were elicited at 2 years. She was summoned at the birth of her brother that had pronounced floppiness and the same ocular abnormalities. Ophtalmological exam confirmed partial and bilateral aniridia in both sibs. Brain MRI showed vermis atrophy in the girl and an hypoplasic inferior vermis in her brother. Apropos of these case reports, we make a brief update about this extremely rare genetic syndrome. (c) 2006 Elsevier SAS. Tons droits reserves.

引用

页码：1323 / 1325

页数：3

共 11 条

[1]

Bursztyn J., 1995, ARCH PEDIATRIE, V2, P904

[2]

CROWFURD MDA, 1979, J MED GENET, V16, P373

[3] Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation [J].

Dollfus, H ;

Joanny-Flinois, O ;

Doco-Fenzy, M ;

Veyre, L ;

Joanny-Flinois, L ;

Khoury, M ;

Jonveaux, P ;

Abitbol, M ;

Dufier, JL .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1998, 125 (03) :397-399

[4]

GILLESPIE FD, 1965, ARCH OPHTHALMOL-CHIC, V73, P338

[5] ABSENCE OF PAX6 GENE-MUTATIONS IN GILLESPIE SYNDROME (PARTIAL ANIRIDIA, CEREBELLAR-ATAXIA, AND MENTAL-RETARDATION) [J].

GLASER, T ;

TON, CCT ;

MUELLER, R ;

PETZLERLER, ML ;

OLIVER, C ;

NEVIN, NC ;

HOUSMAN, DE ;

MAAS, RL .

GENOMICS, 1994, 19 (01) :145-148

[6] Present limitations of molecular biological diagnostics in Gillespie syndrome. [J].

Kieslich, M ;

Vanselow, K ;

Wildhardt, G ;

Gebhardt, B ;

Weis, R ;

Böhles, H .

KLINISCHE PADIATRIE, 2001, 213 (02) :47-49

[7] ATAXIA WITH ANIRIDIA OF GILLESPIE - A CASE-REPORT [J].

LECHTENBERG, R ;

FERRETTI, C .

NEUROLOGY, 1981, 31 (01) :95-97

[8]

NELSON J, 1997, AM J MED GENET, V718, P134

[9] SYNDROME OF PARTIAL ANIRIDIA, CEREBELLAR-ATAXIA, AND MENTAL-RETARDATION - GILLESPIE SYNDROME [J].

NEVIN, NC ;

LIM, JHK .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (04) :468-469

[10]

Verhulst S, 1993, Bull Soc Belge Ophtalmol, V250, P37

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