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

Clinical Dysmorphology

Volumn 9, Issue 2, 2000, Pages 93-97

  Al Gazali, L I ^a   Bakir, M ^b   Hamid, Z M ^b   Nath, R ^b   Haas, D ^b  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b NONE

Author keywords

Agenesis of corpus callosum; Camptodactyly; Long bone bowing; Talipes equino varus

Indexed keywords

ARTICLE; CAMPTODACTYLY; CASE REPORT; CORPUS CALLOSUM AGENESIS; FEMALE; HUMAN; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PES EQUINOVARUS; PRIORITY JOURNAL; SCHWARTZ JAMPEL SYNDROME; SKELETON MALFORMATION; SYNDROME DELINEATION;

EID: 0034037995     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200009020-00003     Document Type: Article

References (14)

1. 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.
2. Chabrol B, Sigaudy S, Paquis V, Monfort M, Giudicelli H, Pellissier J, Millet V, Mancini J, Philip N (1997). Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain. Am J Med Genet 72:222-226.
3. Cormier-Daire V, Superti-Furga A, Munnich A, Lyonnet S, Rustin P, Delezoide AL, DeLonlay P, Giedion A, Maroteaux P, LeMerrer M (1998). Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet 78:146-149.
4. Giedion A, Boltshauser E, Briner J, Eich G, Exner G, Fendel H, Kaufman C, Steinmann B, Spranger J, Superti-Furga A (1997). Heterogeneity in Schwartz-Jampel chrondrodystrophic myotonia. Eur J Pediatr 156:214-223.
5. Hall BD, Spranger J (1980). Campomelic dysplasia: Further elucidation of a distinct entity. Am J Dis Child 134: 285-289.
6. Hall BD, Spranger J (1983). Congenital bowing of the long bones. Eur J Pediatr 133:131-138.
7. Kozlowski K, Butzler HO, Galatius-Jensen F, Tulloch A (1978). Syndromes of congenital bowing of the long bones. Pediatr Radiol 7:40-48.
8. Kozlowski K, Tenconi R (1996). Stüve-Wiedemann dysplasia in a 31/2 year old boy. Am J Med Genet 63:17-19.
9. Maroteaux P (1973). The campomelic syndrome. Prog Pediatr Radiol 4:578-581.
10. Sigaudy S, Moncla A, Fredouille C, Bowliere B, Lambert JC, Philip N (1998). Congenital bowing of the long bones in two fetuses presenting features of Stüve-Wiedemann syndrome and Schwartz-Jampel type 2. Clin Dysmorphol 7:257-262.
11. Stüve A, Wiedemann HR (1971). Angeborene Verbiegung langer Zohrenknochen. Eine Geschwisterbeobachung Z Kinderheilkd 111:184-192.
12. Wiedemann HR, Stüve A, (1996). Stüve-Wiedemann syndrome: Update and historical footnote. Am J Med Genet 63: 12-16.
13. Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauser E, Giedion A (1998). Schwartz-Jampel syndrome type 2 and Stüve-Wiedemann syndrome: A case for 'Lumping'. Am J Med Genet 78:150-154.
14. Temple IK, Thompson EM, Hall CM, Bridgeman G, Pembrey ME (1989). Kyphomelic dysplasia. J Med Genet 26: 457-461.