Second-trimester sonographic diagnosis of nonrhizomelic chondrodysplasia punctata

Journal of Ultrasound in Medicine

Volumn 21, Issue 3, 2002, Pages 345-349

  Pradhan, Gautam M ^a   Chaubal, Nitin G ^a   Chaubal, Jyoti N ^a   Raghavan, Jayanti ^a  

^a Saikripa Maternity Hospital   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL ORGANS; DIAGNOSIS; MEDICAL APPLICATIONS; SKIN; ULTRASONICS;

NASAL BRIDGE;

BIOMEDICAL ENGINEERING;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CALCIFICATION; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; DIFFERENTIAL DIAGNOSIS; EAR MALFORMATION; ECHOGRAPHY; FACE MALFORMATION; FEMALE; FEMUR EPIPHYSIS; FETUS; HUMAN; NOSE MALFORMATION; PRENATAL DIAGNOSIS; SECOND TRIMESTER PREGNANCY;

EID: 0036197042     PISSN: 02784297     EISSN: None     Source Type: Journal    
DOI: 10.7863/jum.2002.21.3.345     Document Type: Article

References (28)

1. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata
2. A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II
3. Chondrodysplasia punctata (the Conradi-Hunermann syndrome): A clinical case report and review of literature
4. X-linked dominant chondrodysplasia punctata: An osteocutaneous syndrome
5. Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata
6. Rhizomelic chondrodysplasia punctata: Early recognition with antenatal sonography
7. Fetal biparietal diameter: A critical re-evaluation of the relation to menstrual age by means of real-time ultrasound
8. Fetal femur length as a predictor of menstrual age: Sonographically measured
9. Estimating fetal age: Computer-assisted analysis of multiple fetal growth parameters
10. Fetal foot length as a predictor of gestational age
11. Fetal foot length: A new parameter for assessment of gestational age
12. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
13. Prenatal ultrasound diagnosis of rhizomelic chondrodysplasia punctata in a primigravida
14. Prenatal diagnosis of chondrodysplasia punctata by sonography
15. Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroxyacetonephosphate acyltransferase synthetase deficiency
16. Prenatal diagnosis of non-rhizomelic chondrodysplasia punctata (Conradi-Hunermann syndrome)
17. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata
18. Prenatal sonographic diagnosis of non-rhizomelic chondrodysplasia punctata
19. X-linked dominant chondrodysplasia punctata: A case report and family studies
20. X-linked dominant chondrodysplasia punctata
21. Prenatal diagnosis of Conradi's syndrome: Case report
22. Fetal ascites associated with Conradi's disease (chondrodysplasia punctata): Report of a case
23. Chondrodysplasia punctata, tibia-metacarpal type
24. Prenatal findings in chondrodysplasia punctata, tibia metacarpal type
25. Chondrodysplasia punctata, humero-metacarpal type: A second case
26. Ultrasonographic assessment of gestational age with the distal femoral and proximal tibial ossification centers in the third trimester
27. Punctate epiphyses: A radiological sign not a disease
28. Punctate epiphyses associated with Turner syndrome