NEW CASE OF TORIELLO-CAREY SYNDROME

被引：19

作者：

LACOMBE, D ^{[1
]}

CREUSOT, G ^{[1
]}

BATTIN, J ^{[1
]}

机构：

[1] CHG NIORT,SERV PEDIAT & NEONATAL,NIORT,FRANCE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 42卷 / 03期

关键词：

AUTOSOMAL RECESSIVE INHERITANCE; HYPOTONIA; AGENESIS OF THE CORPUS CALLOSUM; CARDIOMYOPATHY;

D O I：

10.1002/ajmg.1320420325

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A new syndrome was identified by Toriello and Carey (Am J Med Genet 31:17-23, 1988), based on the description of four children, three of whom were sibs. The main manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia. We describe findings in a patient, presumed to be another case of the Toriello-Carey syndrome, which extend the phenotype of the syndrome.

引用

页码：374 / 376

页数：3

共 6 条

[1]

BATTIN J, 1976, J GENET HUM, V24, P261

[2]

CRANE JP, 1981, PEDIATRICS, V68, P235

[3]

Jones KL, 1988, SMITHS RECOGNIZABLE

[4] CRANIOSYNOSTOSIS, AGENESIS OF THE CORPUS-CALLOSUM, SEVERE MENTAL-RETARDATION, DISTINCTIVE FACIES, CAMPTODACTYLY, AND HYPOGONADISM [J].

LIN, AE ;

GETTIG, E .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (04) :582-585

[5]

Rommen I, 1983, J Clin Dysmorphol, V1, P10

[6] CORPUS-CALLOSUM AGENESIS, FACIAL ANOMALIES, ROBIN SEQUENCE, AND OTHER ANOMALIES - A NEW AUTOSOMAL RECESSIVE SYNDROME [J].

TORIELLO, HV ;

CAREY, JC .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (01) :17-23

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