Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene [12]

Prenatal Diagnosis

Volumn 26, Issue 4, 2006, Pages 393-394

  Aerts, Marijke ^a,b   Van Holsbeke, Caroline ^b   De Ravel, Thomy ^b   Devlieger, Roland ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b Ziekenhuizen Oost Limburg Campus Genk ^*  (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 2; PROCOLLAGEN; COLLAGEN TYPE I, ALPHA 1 CHAIN;

AUTOPSY; BONE DENSITY; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; EXON; FEMALE; FETUS; GEL ELECTROPHORESIS; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOPHOSPHATASIA; KARYOTYPE; LETTER; NUCHAL TRANSLUCENCY MEASUREMENT; OSTEOGENESIS IMPERFECTA; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; THREE DIMENSIONAL IMAGING; ULTRASOUND; X RAY; ADULT; ECHOGRAPHY; GENETICS; GESTATIONAL AGE; KARYOTYPING; MUTATION; PREGNANCY;

ADULT; COLLAGEN TYPE I; FEMALE; GESTATIONAL AGE; HUMANS; KARYOTYPING; MUTATION; NUCHAL TRANSLUCENCY MEASUREMENT; OSTEOGENESIS IMPERFECTA; PREGNANCY; ULTRASONOGRAPHY, PRENATAL;

EID: 33646063807     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1428     Document Type: Letter

References (5)

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3. McEwing RL, Alton K, Johnson J, Scioscia AL, Pretorius DH. 2003. First-trimester diagnosis of osteogenesis imperfecta type II by three-dimensional sonography. J Ultrasound Med 22: 311-314.
4. Ruano R, Molho M, Roume J, Ville Y. 2004. Prenatal diagnosis of fetal skeletal dysplasias by combining two-dimensional and three-dimensional helical computer tomography. Ultrasound Obstet Gynecol 24(2): 134-140.
5. Ruano R, Picone O, Benachi A, et al. 2003. First-trimester diagnosis of osteogenesis imperfecta associated with encephalocoele by conventional and three-dimensional ultrasound. Prenat Diagn 23(7): 539-542.