A mild variant of Desbuquois dysplasia

European Journal of Pediatrics

Volumn 158, Issue 6, 1999, Pages 479-483

  Nishimura, G ^e   Hong, H S ^a   Kawame, H ^b   Sato, S ^c   Cai, G ^d   Ozono, K ^d  

^a Soonchunhyang University   (South Korea)

^b Tokyo Metropol Kita Med/Rehab C   (Japan)

^c KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d Osaka Med Ctr Res Inst M   (Japan)

^e DOKKYO MEDICAL UNIVERSITY   (Japan)

Author keywords

Desbuquois dysplasia; Diastrophic dysplasia sulphate transporter gene; Mild phenotype; Siblings; Skeletal dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BONE GROWTH; CASE REPORT; CHILD; CLINICAL FEATURE; FEMALE; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; MALE; POSTNATAL GROWTH; PRIORITY JOURNAL; SHORT STATURE; SPONDYLOARTHROPATHY;

ABNORMALITIES, MULTIPLE; ANION TRANSPORT PROTEINS; BONE AND BONES; BONE DISEASES, DEVELOPMENTAL; CARRIER PROTEINS; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; MEMBRANE TRANSPORT PROTEINS; PHENOTYPE; SULFATES;

EID: 0033008391     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051124     Document Type: Article

References (15)

1. 1. Al-Gazeli LI, Aziz SAA, Bakalinova D (1996) Desbuquois syndrome in an Arab Bedouin family. Clin Genet 50:255-259
2. 2. Beemer FA, Kramer PPG, Harten HJ van der, Gerards LJ (1985) A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. Am J Med Genet 20:555-558
3. 3. Desbuquois G, Grenier B, Michel J, Rossignol C (1996) Nanism chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Arch Fr Pediatr 23:573-587
4. 4. Gillessen-Kaesbach G, Meineck P, Ausems MGEM, Nothen M, Albrecht B, Beemer FA, Zerres K (1995) Desbuquois syndrome: three further cases and review of the literature. Clin Dysmorphol 4:136-144
5. 5. Cai G, Nakayama M, Hiraki Y, Ozono K (1998) Mutational analysis of the DTDST gene in a fetus with achondrogenesis type IB. Am J Med Genet 78:58-60
6. 6. Jequire S, Perreault G, Maroteaux P (1992) Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age. Pediatr Radiol 22:440-442
7. 7. Laville JM, Lakermance P, Limouzy F (1994) Larsen's syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop 14:63-73
8. 8. Le Merrer M, Young ID, Stanescu V, Maroteaux P (1991) Desbuquois syndrome. Eur J Pediatr 150:793-796
9. 9. Meinecke P, Spranger J, Schaefer E, Maroteaux P (1989) Micromelic dwarfism with vertebral and metaphyseal and advanced carpotarsal ossification: another observation. Am J Med Genet 32:432-434
10. 10. Nishimura G, Sato S, Ogata T, Tamai S, Hasegawa T, Matsuo N (1996) A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia? Eur J Pediatr 155:1040-1042
11. 11. Nishimura G, Satoh M, Aihara T, Aida N, Yamamoto T, Ozono K (1998) A distinct subtype of "metatropic dysplasia variant" characterized by advanced carpal skeletal age and subluxation of the radial heads. Pediatr Radiol 28:120-125
12. 12. Ogle RF, Wilson MJ, Kozlowski K, Sillence DO (1994) Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis. Am J Med Genet 51:216-221
13. 13. Pazzaglia UE, Pedrotti L, Beluffi G, Ceciliani L (1988) Chondrodystrophic dwarfism and multiple malformations in two sisters. Pediatr Radiol 19:41-44
14. 14. Piussan C, Maroteaux P, Castroviejo I, Risbourg B (1975) Dysplasie osseuse avec nanism et alterations squelettiques diffuses. Arch Fr Pediatr 32:541-550
15. 15. Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL (1994) Desbuquois syndrome: clinical, radiographic, and morphologic characterization. Am J Med Genet 52:9-18