Congenital bowing of the long bones in two fetuses presenting features of Stuve-Wiedemann syndrome and Schwartz-Jampel syndrome type 2

被引：8

作者：

Sigaudy, S ^{[1
]}

Moncla, A

Fredouille, C

Bourliere, B

Lambert, JC

Philip, N

机构：

[1] Hop Enfants La Timone, Dept Med Genet, F-13385 Marseille 5, France

[2] Hop Enfants La Timone, Dept Pediat Radiol, F-13385 Marseille, France

[3] Hop Archet, Dept Med Genet, Nice, France

来源：

CLINICAL DYSMORPHOLOGY | 1998年 / 7卷 / 04期

关键词：

Stuve-Wiedemann syndrome; neonatal Schwartz-Jampel syndrome; prenatal diagnosis; skeletal dysplasia; congenital bowing of the long bones;

D O I：

10.1097/00019605-199810000-00004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report two fetuses with congenital bowing of the long bones. Clinical and radiological features led us to consider two conditions: the Stuve-Wiedemann syndrome and the neonatal Schwartz-Jampel syndrome type 2. Similarities between the two syndromes are discussed. Clin Dysmorphol 7: 257-262 (C) 1998 Lippincott Williams & Wilkins.

引用

页码：257 / 262

页数：6

共 22 条

[1]

al Gazali L I, 1994, Clin Dysmorphol, V3, P46

[2] 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

[3] Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1 [J].

Brown, KA ;

AlGazali, LI ;

Moynihan, LM ;

Lench, NJ ;

Markham, AF ;

Mueller, RF .

JOURNAL OF MEDICAL GENETICS, 1997, 34 (08) :685-687

[4]

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

[5]

2-P

[6] Kyphomelic dysplasia in two sib fetuses [J].

Chen, CP ;

Chern, SR ;

Shih, SL ;

Chuang, CY ;

Huang, FY .

JOURNAL OF MEDICAL GENETICS, 1998, 35 (01) :65-69

[7] Recessive Schwartz-Jampel syndrome (SJS']JS): Confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS']JS locus to a 3-cM interval [J].

Fontaine, B ;

Nicole, S ;

Topaloglu, H ;

BenHamida, C ;

Beighton, P ;

Spaans, F ;

Cantu, JMA ;

Bakouri, S ;

Romero, N ;

Ricker, K ;

BarrosNunez, P ;

Ponsot, G ;

BenHamida, M ;

Weissenbach, J ;

Hentati, F ;

LehmannHorn, F .

HUMAN GENETICS, 1996, 98 (03) :380-385

[8] 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

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

HALL, BD ;

SPRANGER, JW .

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

[10] THE CAMPOMELIC SYNDROME - REVIEW, REPORT OF 17 CASES, AND FOLLOW-UP ON THE CURRENTLY 17-YEAR-OLD BOY 1ST REPORTED BY MAROTEAUX ET AL IN 1971 [J].

HOUSTON, CS ;

OPITZ, JM ;

SPRANGER, JW ;

MACPHERSON, RI ;

REED, MH ;

GILBERT, EF ;

HERRMANN, J ;

SCHINZEL, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 15 (01) :3-28

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