A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The upsilon sign

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 966-969

  Baynam, Gareth ^a,b   Kiraly Borri, Cathy ^a   Goldblatt, Jack ^a,b   Dickinson, Jan E ^c   Jevon, Gareth P ^b   Overkov, Angela ^a  

^a KING EDWARD MEMORIAL HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Desbuquois dysplasia; Hydrops; Prenatal; Skeletal dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; DESBUQUOIS DYSPLASIA; DIFFERENTIAL DIAGNOSIS; FETUS; HUMAN; HYDROPS; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; BONE DISEASES, DEVELOPMENTAL; EDEMA; EPIPHYSES; FEMALE; FETUS; HUMANS; MALE; POSTMORTEM CHANGES; PREGNANCY; RECURRENCE; ULTRASONOGRAPHY, PRENATAL;

EID: 77950415099     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33264     Document Type: Article

References (11)

1. Al Kaissi A, Nessib N, Ghachem MB, Hammou A, Guiddana N, Kozlowski K. 2005. A novel syndrome resembling Desbuquois dysplasia. Am J Med Genet Part A 132A:68-75. (Pubitemid 40070565)
2. Faivre L, Cormier-Daire V, EliottAM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R. 2004a. Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: Radiographic manifestations. AmJ Med Genet Part A 124A:48-53. (Pubitemid 38139815)
3. Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. 2004b. Clinical and genetic heterogeneity in Desbuquois dysplasia. Am J Med Genet A 128A:29-32. (Pubitemid 38856813)
4. Grischke EM, Troger J, Schroeder-Kurth T, Schmidt W. 1989. Prenatal sonographic diagnosis of a case of Desbuquois familial osseous dysplasia. Z Geburtshilfe Perinatol 193:195-197.
5. Hall BD. 2001. Lethality in Desbuquois dysplasia: Three new cases. Pediatr Radiol 31:43-47. (Pubitemid 32124456)
6. Jequier 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. Manzke H, Lehmann K, Klopocki E, Caliebe A. 2008. Catel-Manzke syndrome: Two new patients and a critical review of the literature. Eur J Med Genet 51:452-465.
8. Miyake A, Nishimura G, Futami T, Ohashi H, Chiba K, Toyama Y, Furuichi T, Ikegawa S. 2008. A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia. J Hum Genet 53:764-768.
9. Nishimura G, Hong HS, Kawame H, Sato S, Cai G, Ozono K. 1999. A mild variant of Desbuquois dysplasia. Eur J Pediatr 158:479-483.
10. 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. (Pubitemid 24184453)
11. ShohatM,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. (Pubitemid 24237324)