Congenital bowing of the long bones associated with camptodactyly, talipes equinovarus and agenesis of the corpus callosum

被引：6

作者：

Al-Gazali, LI

Bakir, M

Hamid, ZM

Nath, R

Haas, D

机构：

[1] UAE Univ, Fac Med & Hlth Sci, Dept Paediat, Al Ain, U Arab Emirates

[2] MoH, Al Ain Hosp, Dept Paediat & Radiol, Al Ain, U Arab Emirates

来源：

CLINICAL DYSMORPHOLOGY | 2000年 / 9卷 / 02期

关键词：

long bone bowing; camptodactyly; talipes equino-varus; agenesis of corpus callosum;

D O I：

10.1097/00019605-200009020-00003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a baby with congenital bowing of the long bones, camptodactyly, talipes equinovarus and radiological features resembling both Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2. The baby had, in addition, agenesis of the corpus callosum. This feature has not been reported in either of these syndromes. It is possible that this baby has a previously undescribed syndrome. Clin Dysmorphol 9: 93-97 (C) 2000 Lippincott Williams & Wilkins.

引用

页码：93 / 97

页数：5

共 17 条

[1] Neonatal Schwartz-Jampel syndrome: A common autosomal recessive syndrome in the United Arab Emirates [J].

AlGazali, LI ;

Varghese, M ;

Varady, E ;

AlTalabani, J ;

Scorer, J ;

Baltalinova, D .

JOURNAL OF MEDICAL GENETICS, 1996, 33 (03) :203-211

[2]

Chabrol B, 1997, AM J MED GENET, V72, P222, DOI 10.1002/(SICI)1096-8628(19971017)72:2<222::AID-AJMG18>3.0.CO

[3]

2-P

[4]

Cormier-Daire V, 1998, AM J MED GENET, V78, P146, DOI 10.1002/(SICI)1096-8628(19980630)78:2<146::AID-AJMG9>3.0.CO

[5]

2-M

[6] Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia [J].

Giedion, A ;

Boltshauser, E ;

Briner, J ;

Eich, G ;

Exner, G ;

Fendel, H ;

Kaufmann, L ;

Steinmann, B ;

Spranger, J ;

SupertiFurga, A .

EUROPEAN JOURNAL OF PEDIATRICS, 1997, 156 (03) :214-223

[7] CONGENITAL BOWING OF THE LONG BONES - REVIEW AND PHENOTYPE ANALYSIS OF 13 UNDIAGNOSED CASES [J].

HALL, BD ;

SPRANGER, J .

EUROPEAN JOURNAL OF PEDIATRICS, 1980, 133 (02) :131-138

[8] CAMPOMELIC DYSPLASIA - FURTHER ELUCIDATION OF A DISTINCT ENTITY [J].

HALL, BD ;

SPRANGER, JW .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1980, 134 (03) :285-289

[9] SYNDROMES OF CONGENITAL BOWING OF LONG BONES [J].

KOZLOWSKI, K ;

BUTZLER, HO ;

GALATIUSJENSEN, F ;

TULLOCH, A .

PEDIATRIC RADIOLOGY, 1978, 7 (01) :40-48

[10]

Kozlowski K, 1996, AM J MED GENET, V63, P17

← 1 2 →