Case Reports
doi: 10.1002/pd.1970050102.
Prenatal diagnosis of campomelic dysplasia by ultrasonography
- PMID: 3883340
- DOI: 10.1002/pd.1970050102
Item in Clipboard
Case Reports
Prenatal diagnosis of campomelic dysplasia by ultrasonography
Prenat Diagn.
1985 Jan-Feb.
Abstract
Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th week of gestation. This was confirmed in the 18th week. The pregnancy was terminated and the fetus showed the typical radiological, anatomical and histological findings.
Similar articles
-
[Prenatal sonographic diagnosis of a case of Desbuquois familial osseous dysplasia].Z Geburtshilfe Perinatol. 1989 Jul-Aug;193(4):195-7. Z Geburtshilfe Perinatol. 1989. PMID: 2678787 German.
-
Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism.Am J Med Genet. 1988 Dec;31(4):915-20. doi: 10.1002/ajmg.1320310426. Am J Med Genet. 1988. PMID: 3071136
-
Osteogenesis imperfecta and campomelic dysplasia: difficulties in prenatal diagnosis.J Ultrasound Med. 1994 Sep;13(9):691-700. doi: 10.7863/jum.1994.13.9.691. J Ultrasound Med. 1994. PMID: 7933045
-
Prenatal sonographic evaluation of short-limbed dwarfism: an algorithmic approach.Radiographics. 1990 Mar;10(2):217-36. doi: 10.1148/radiographics.10.2.2183297. Radiographics. 1990. PMID: 2183297 Review.
-
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.Am J Med Genet. 1993 Aug 15;47(2):272-7. doi: 10.1002/ajmg.1320470226. Am J Med Genet. 1993. PMID: 8213919 Review.
Cited by
-
Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.Am J Hum Genet. 2005 Apr;76(4):663-71. doi: 10.1086/429254. Am J Hum Genet. 2005. PMID: 15717285 Free PMC article.
-
A clinical and genetic study of campomelic dysplasia.J Med Genet. 1995 Jun;32(6):415-20. doi: 10.1136/jmg.32.6.415. J Med Genet. 1995. PMID: 7666392 Free PMC article.
-
Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.Pediatr Radiol. 1987;17(1):50-5. doi: 10.1007/BF02386595. Pediatr Radiol. 1987. PMID: 3822582
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
