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

Clinical Dysmorphology

Volumn 7, Issue 4, 1998, Pages 257-262

  Sigaudy, S ^a   Moncla, A ^a   Fredouille, C ^a   Bourliere B ^a   Lambert, J C ^b   Philip, N ^a  

^a TIMONE HOSPITAL   (France)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

Author keywords

Congenital bowing of the long bones; Neonatal Schwartz Jampel syndrome; Prenatal diagnosis; Skeletal dysplasia; Stuve Wiedemann syndrome

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; BONE BOWING; CASE REPORT; CHONDRODYSPLASIA; DISEASE CLASSIFICATION; FACE DYSMORPHIA; FETUS; HUMAN; LONG BONE; PRIORITY JOURNAL; SCHWARTZ JAMPEL SYNDROME;

EID: 0031772571     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-199810000-00004     Document Type: Article

References (21)

1. Al Gazali LI (1993). The Schwartz-Jampel syndrome. Clin Dysmorphol 2:47-54.
2. Al Gazali LI, Varghese M, Varady E, Al Talabani J, Scorer J, Bakalinova D (1996). Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates. J Med Genet 33:203-211.
3. Brown KA, Al Gazali LI, Moynihan LM, Lench NJ, Markham AF, Mueller RF (1997). Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1. J Med Genet 34:685-687.
4. Chabrol B, Sigaudy S, Paquis V, Montfort MF, Giudicelli H, Pelissier JF, Millet V, Mancini J, Philip N (1997). Stüve-Wiedemann syndrome and defect of the mitochondrial respiratory chain. Am J Med Genet 72:222-226.
5. Chen CP, Chern SR, Shih SL, Chuang CY, Huang FY (1998). Kyphomelic dysplasia in two fetuses. J Med Genet 35: 65-69.
6. Fontaine B, Nicole S, Topaloglu H, Ben Hamida C, Beighton P, Spaans F, Cantu JM, Bakouri S, Romero N, Ricker K, Barros-Nunez P, Ponsot G, Ben Hamida M, Weissenbach J, Hentati F, Lehmann-Horn F (1996). Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval. Hum Genet 98:380-385.
7. Giedion A, Bolsthauser E, Briner J, Eich G, Exner G, Fendel H, Kaufmann L, Steinmann B, Spranger J, Superti-Furga A (1997). Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia. Eur J Pediatr 156:214-223.
8. Hall BD, Spranger J (1980). Campomelic dysplasia: Further elucidations of a distinct entity. Am J Dis Child 134: 285-289.
9. Houston CS, Opitz JM, Spranger JW, Macpherson RI, Reed MH, Gilbert EF, Hermann J, Schinzel A (1983). The Campomelic syndrome review. Report of 17 cases and follow up in the currently 17-year-old boy first reported by Maroteaux et al. in 1981. Am J Med Genet 15:3-28.
10. Khajavi A, Lachman RS, Rimoin DL, Schmike RN, Dorst JP, Ebbin AJ, Handmaker S, Perreault G (1976). Heterogeneity in the campomelic syndromes: Long and Short Bones Varieties. BD XII, 6:93-100.
11. Kozlowski K, Tenconi R (1996). Stüve-Wiedemann dysplasia in a 3 1/2 year-old-boy. Am J Med Genet 63:17-19.
12. Maroteaux P (1995). Maladies osseuses constitutionnelles. 3ème éd. Paris: Flammarion. Medecine-Sciences. p. 86-87.
13. Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J (1995). Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet 4:1633-1636.
14. Philippe HJ, Paupe A, Dompeyre PH, Lenelen R, Nisand I (1993). Conduite á tenir devant la découverte échographique d'un fémur court in utero. A propos d'un diagnostic anténatal de syndrome de Stüve-Wiedemann. J Gynecol Obstet Biol Reprod 22:269-274.
15. Spranger J (1970). Increasing frequency of a syndrome of multiple osseous defects. Lancet ii:716.
16. Spranger J, Maroteaux P (1990). Stüve-Wiedemann syndrome. Adv Hum Genet 19:73.
17. Spranger J (1992). International classification of osteochondrodysplasia. Eur J Pediatr 152:407-415.
18. Stüve A, Wiedemann MR (1971a). Congenital bowing of the long bones in two sisters. Lancet ii:495.
19. Stüve A, Wiedemann MR (1971b). Angeborene verbiegungen langer Röhrenknochen-eine geschwisterbeobachtung. Z Kinderheilkd 111:184-192.
20. Wagner T (1994). Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY related gene SOX 9. Cell 79:1111-1120.
21. Wiedemann HR, Stüve A. (1996). Stüve-Wiedemann syndrome: update and historical footnote. Am J Med Genet 63:12-16.