Skeletal dysplasis: 38 prenatal cases

Genetic Counseling

Volumn 19, Issue 3, 2008, Pages 267-275

  Witters, Ingrid ^a,b   Moerman, Ph ^a   Fryns, J P ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Lethal; Prenatal; Skeletal dysplasia

Indexed keywords

ACHONDROPLASIA; AMNIOCENTESIS; ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; CAMPOMELIC DYSPLASIA; CHORION VILLUS; CLEFT PALATE; CLINICAL ARTICLE; ELLIS VAN CREVELD SYNDROME; FETUS; FOLLOW UP; GENETIC DATABASE; GENETIC DISORDER; GESTATIONAL AGE; HUMAN; HYPOPHOSPHATASIA; JEUNE SYNDROME; MAJEWSKI SYNDROME; MOHR MAJEWSKI SYNDROME; MOLECULAR GENETICS; OSTEOGENESIS IMPERFECTA; PREGNANCY; PRENATAL DIAGNOSIS; ROBERTS SYNDROME; SYNDROME FFU; THANATOPHORIC DWARFISM; CHORION VILLUS SAMPLING; FEMALE; FETUS ECHOGRAPHY; GENETIC COUNSELING; GENETICS; NEWBORN; RETROSPECTIVE STUDY; SECOND TRIMESTER PREGNANCY; SYNDROME; THIRD TRIMESTER PREGNANCY;

AMNIOCENTESIS; BONE DISEASES, DEVELOPMENTAL; CHORIONIC VILLI SAMPLING; DATABASES, GENETIC; FEMALE; FOLLOW-UP STUDIES; GENETIC COUNSELING; HUMANS; INFANT, NEWBORN; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PREGNANCY TRIMESTER, THIRD; RETROSPECTIVE STUDIES; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 55049132804     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (16)

1. AERTS M., VAN HOLSBEKE C., DE RAVEL T., DEVLIEGER R.: Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene. Prenat. Diagn., 2006, 26, 394.
2. CANNIE M., JANI J.C., DE KEYZER F., DEVLIEGER R., VAN SCHOUBROECK D., WITTERS I., MARCHAL G., DYMARKOWSKI S., DEPPEST J.A.: Fetal body volume: use at MR imaging to quantify relative lung volume in fetuses suspected of having pulmonary hypoplasia. Radiology, 2006, 241, 847-853.
3. DORAY B., FAVRE R., VIVILLE B., LANGER B., DREYFUS M., STOLL C.: Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases. Ann. Genet., 2000, 43, 163-169.
4. GONCALVES L.F., ESPINOZA J., MAZOR M., ROMERO R.: Newer imaging modalities in the prenatal diagnosis of skeletal dysplasias. Ultrasound Obstet. Gynecol., 2004, 24, 115-120.
5. GRUBER A., RABINERSON D., KAPLAN B., OVADIA Y.: Prenatal diagnosis of Roberts syndrome. Prenat. Diagn., 1994, 14, 511-512.
6. HURST J.A., FIRTH H.V., SMITHSON S.: Skeletal dysplasias. Semin. Fetal Neonatal Med., 2005, 10, 233-241.
7. LEITE J, JEANTY PH., SI̧LVA S.R.: Campomelic dysplasia. TheFetus.Net, 2006. http://www.thefetus.net/page.php?id=337
8. MAHIEU-CAPUTO D., SONIGO P., DOMMERGUES M., FOURNET J.C., THALABARD J.C., ABARCA C., BENACHI A., BRUNELLE F., DUMEZ Y.: Fetal lung volume measurement by magnetic resonance imaging in congenital diaphragmatic hernia. BJOG, 2001, 108, 863-868.
9. MORNET E.: Hypophosphatasia. Orphanet. J. Rare. Dis., 2007, 2, 40.
10. NICOLAIDES K.H.: Increased nuchal translucency with normal karyotype. Chapter 3 in: The 11-13+6 weeks scan, 2004, 79. http://www.fetalmedicine.com/pdf/11-14/english/FMF-English.pdf
11. PAPILLA B.V, LEETH E.A., KAMBICH M.P., CHILIS P., MACGREGOR S.N.: Antenatal detection of skeletal dysplasias. J. Ultrasound Med., 2003, 22, 255-258.
12. REECE E.A., HOBBINS J C.: Handbook of Clinical Obstetrics: The Fetus & Mother. Blackwell Publishing, 2006.
13. TAYLOR A.M, JONES R., OFFIAH A., OLSEN O., SEBIRE N.J.: Postmortem magnetic resonance imaging as an adjunct to the diagnosis of skeletal dysplasias: short-rib polydactyly syndrome. Ultrasound Obstel. Gynecol., 2006, 27, 585-586.
14. WITTERS I.,CANNIE M., DEVRIENDT K, FRYNS J.P.: Mohr-Majewski spectrum. TheFetus.Net, 2007. http://www,thefetus.net/ page.php?id=1947
15. WITTERS I., DELATTIN P., MOERMAN P., FRYNS J.P.: Symmetrical tetraphocomelia without associated congenital malformations: a nosological dilemma. Am. J. Med. Genet., 2002, 113, 227-228.
16. WITTERS I., MOERMAN P., MORNET E., FRYNS J.P.: Positive maternal serum triple test screening in severe early onset hypophosphatasia. Prenat. Diagn., 2004, 24, 494-497.