New insights in congenital bowing of the femora

Clinical Genetics

Volumn 66, Issue 3, 2004, Pages 169-176

  Cormier Daire, Valérie ^a   Genevieve D ^a   Munnich, A ^a   Le Merrer, M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Bowing; Campomelic dysplasia; Kyphomelic dysplasia; St ve Wiedemann syndrome

Indexed keywords

LEUKEMIA INHIBITORY FACTOR RECEPTOR; PERLECAN; RIBONUCLEASE MITOCHONDRIAL RNA PROCESSING PROTEIN; SCLEROPROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX9; UNCLASSIFIED DRUG;

BONE DYSPLASIA; BONE RADIOGRAPHY; CARTILAGE HAIR HYPOPLASIA; CLINICAL FEATURE; COMPOMELIC DYSPLASIA; CUMMING SYNDROME; FEMOROFACIAL SYNDROME; FEMUR MALFORMATION; GENE MUTATION; HUMAN; KYPHOMELIC DYSPLASIA; MALFORMATION SYNDROME; MOLECULAR GENETICS; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; SCHWARTZ JAMPEL TYPE 2 SYNDROME; SHORT SURVEY; STUVE WIEDEMANN SYNDROME;

COLLAGEN TYPE I; FEMUR; HEPARAN SULFATE PROTEOGLYCANS; HIGH MOBILITY GROUP PROTEINS; HUMANS; LEUKEMIA INHIBITORY FACTOR RECEPTOR ALPHA SUBUNIT; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; RECEPTORS, CYTOKINE; RECEPTORS, OSM-LIF; TRANSCRIPTION FACTORS;

EID: 4544342086     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.0009-9163.2004.00307.x     Document Type: Short Survey

References (41)

1. Hall CM. International nosology and classification of constitutional disorders of bone. Am J Med Genet 2002: 113: 65-77.
2. Wiedemann HR, Stüve A. Stüve-Wiedemann syndrome. update and historical footnote. Am J Med Genet 1996: 63: 12-16.
3. Al Gazali LI, Ravenscroft A, Feng A et al. Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features. Clin Dysmorphol 2003: 12: 1-8.
4. Cormier-Daire V, Superti-Furga A, Munnich A et al. Clinical homogeneity of the Stuve-Wiedemann syndrome and overlap with the Schwartz-Jampel type 2. Am J Med Genet 1998: 78: 146-149.
5. Dagoneau N, Scheffer D, Huber C et al. Null Leukemia Inhibitory Factor Receptor mutations are responsible for Stuve-Wiedemann/ Schwartz-Jampel type 2 syndromes. Am J Hum Genet 2004: 298-305.
6. MacLean RN, Prater WK, Lozzio CB. Skeletal dysplasia with short, angulated femora (kyphomelic dysplasia). Am J Med Genet 1983: 14: 373-380.
7. Le Merrer M, Cormier-Daire V, Maroteaux P. Re-evaluation of kyphomelic dysplasia. Am J Med Genet 2003: 120A: 289-291.
8. Cisarik F, Kozlowski K, Masel J et al. Variability in kyphomelic dysplasia. Pediatr Radiol 1999: 29: 551-557.
9. Temple IK, Thompson EM, Hall CM et al. Kyphomelic dysplasia. J Med Genet 1989: 26: 457-468.
10. Spranger J, Hall BD, Häne B et al. Spectrum of Schwartz-Jampel syndrome includes micromelic chondrodysplasia, kyphomelic dysplasia and Burton disease. Am J Med Genet 2000: 94: 287-295.
11. Nicole S, Davoine CS, Topaloglu H et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000: 26: 480-483.
12. Corder WT, Hummel M, Miller C, Wilson NW. Association of kyphomelic dysplasia with severe combined immunodeficiency. Am J Med Genet 1995: 57: 626-629.
13. Fryns JP, Annicq P, Ulrix M et al. Congenital bowing of the long bones. Acta Paediatr Scand 1983: 72: 789-791.
14. Rezza E, Iannaccone G, Lendvai D. Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity: report of the clinical and radiological findings in two siblings. Pediatr Radiol 1984: 14: 323-327.
15. O'Reilly MAR, Hall CM. Kyphomelic dysplasia. J Med Genet 1994: 31: 423-427.
16. Palotta R, Ehresman T, Roggini MM et al. Kyphomelic dysplasia: clinical and radiology long-term follow up of one case and review of the literature. Radiology 1999: 212: 847-852.
17. Kuijpers TW, Ridanpää M, Peters M et al. Short limbed dwarfism with bowing, combined immune deficiency and late onset aplastic anaemia caused by novel mutations in the RMPR gene. J Med Genet 2000: 40: 761-766.
18. Maroteaux P, Spranger JW, Opitz JM et al. Le syndrome campomélique. Presse Med 1971: 22: 1157-1162.
19. Hovmoller ML, Osuna A, Eklof O et al. Camtpomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal. Hereditas 1977: 86: 51-62.
20. Houston CS, Opitz JM, Spranger JW et al. The campomelic syndrome: review, report of 17 cases and follow up on the currently 17 year old boy first reported by Maroteaux et al in 1971. Am J Med Genet 1983: 15: 3-28.
21. Macpherson RI, Skinner S, Adonnenfeld AE. Acampomelic campomelic dysplasia. Pediatr Radiol 1989: 20: 90-93.
22. Friedrich U, Schafer E, Meinecke P. Campomelic dysplasia without overt campomelia. Clin Dysmorphol 1992: 1: 172-178.
23. Ozkilic A, Seven M, Yuksel A. A case of acampomelic campomelic dysplasia. Genet Couns 2002: 13: 23-28.
24. Savarirayan R, Robertson SP, Bankier A et al. Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Pediatr Pathol Mol Med 2003: 22: 37-46.
25. Mansour S, Hall CM, Pembrey ME et al. A clinical and genetic study of campomelic dysplasia. J Med Genet 2002: 39: 597-602.
26. Offiah AC, Mansour S, McDowall S et al. Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome. J Med Genet 2002: 39: e50.
27. Scott JE, Taor WS. The 'small patella' syndrome. J Bone Joint Surg Br 1979: 61-B(2): 172-175.
28. Kozlowski K, Nelson J. Small patella syndrome. Am J Med Genet 1995: 57: 558-561.
29. Azouz EM, Kozlowski K. Small patella syndrome: a bone dysplasia to recognize and differentiate from the nail-patella syndrome. Pediatr Radiol 1997: 27: 432-435.
30. Dubousset J, Haddad F, Zeller R et al. La dysplasie ischio-vertébrale (un dangereux syndrome pour la moëlle épinière). Rev Chir Orthop Reparatrice Appar Mot 1994: 80: 610-619.30.
31. Tommerup N, Schempp W, Meinecke P et al. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-Q25.1. Nat Genet 1993: 4: 170-174.
32. Wagner T, Wirth J, Meyer J et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell 1994: 79: 1111-1120.
33. Foster JW, Dominguez-Steglich MA, Guioli S et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 1994: 372: 525-530.
34. Meyer J, Sudbeck P, Held M et al. Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet 1997: 6: 91-98.
35. Cumming WA, Ohlsson A, Ali A. Campomelia, cervical lymphocele, polycystic dysplasia, short gut, polysplenia. Am J Med Genet 1986: 25: 783-790.
36. Ming JE, McDonald-McGinn DM, Markowitz RI et al. Heterotaxia in a fetus with campomelia, cervical lymphocele, polysplenia and multicystic dysplastic kidneys: expanding the phenotype of Cumming syndrome. Am J Med Genet 1997:73:419-424.
37. Perez del Rio MJ, Fernandez-Toral J, Madrigal B et al. Two new cases of Cumming syndrome confirming autosomal recessive inheritance. Am J Med Genet 1999: 82: 340-343.
38. Urioste M, Arroyo A, Martinez-Frias ML. Campomelia, polycystic dysplasia and cervical lymphocele in two sibs. Am J Med Genet 1991: 41: 475-477.
39. Pryde PG, Zelop C, Pauli RM. Prenatal diagnosis of isolated femoral bent bone skeletal dysplasia: problems in differential diagnosis and genetic counseling. Am J Med Genet 2003 March 15: 117A (3): 203-206.
40. Courtens W, Delaet C, Ziereisen F et al. Unilateral bowing of long bone and multiple congenital anomalies in a child born to a mother with gestational diabetes. Ann Genet 2000: 43: 81-88.
41. Bi W, Huang W, Withworth D et al. Haploinsufficiency of Sox9 results in defective cartilage primordial and premature skeletal mineralization. PNAS 2001: 98: 6698-6703.