Prenatal diagnosis of campomelic dysplasia

Ultrasound in Obstetrics and Gynecology

Volumn 15, Issue 5, 2000, Pages 428-430

  Tongsong, T ^a   Wanapirak, C ^a   Pongsatha, S ^a  

^a Faculty of Medicine Chiang Mai University   (Thailand)

Author keywords

Campomelic dysplasia; Prenatal diagnosis; Ultrasound

Indexed keywords

ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; CAMPOMELIC DYSPLASIA; CASE REPORT; FACE MALFORMATION; FETUS; FETUS ECHOGRAPHY; FETUS MALFORMATION; GESTATIONAL AGE; HUMAN; MULTIPLE MALFORMATION SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCAPULA; TIBIA; ULTRASOUND;

ABNORMALITIES, MULTIPLE; ADULT; BONE AND BONES; FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 0034539078     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.2000.00126.x     Document Type: Article

References (13)

1. Birth prevalence rate of skeletal dysplasias
2. Sonographic and radiologic findings in campomelia dysplasia
3. Camptomelic skeletal dysplasia with a narrow thorax
4. Prenatal diagnosis of camptomelic dwarfism
5. Camptomelic dysplasia
6. In utero ultrasonographic features of camptomelic dysplasia
7. Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia
8. Acampomelic campomelic dysplasia with de novo 5q; 17q reciprocal translocation and severe phenotype
9. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
10. A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal
11. Acampomelic campomelic dysplasia: Further radiographic variations
12. Campomelic dysplasia without campomelia