Prenatal diagnosis of thanatophoric dwarfism in second trimester. A case report

Clinical and Experimental Obstetrics and Gynecology

Volumn 25, Issue 4, 1998, Pages 149-150

  Yuce M A ^a   Yardim, T ^a   Kurtul, M ^a   Durukan, S ^a   Gucer F ^a  

^a TRAKYA UNIVERSITY   (Turkey)

Author keywords

Prenatal diagnosis; Thanatophoric dwarfism; Ultrasonography

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 4; CHROMOSOME ANALYSIS; ECHOGRAPHY; FEMALE; HUMAN; PRENATAL DIAGNOSIS; SECOND TRIMESTER PREGNANCY; THANATOPHORIC DWARFISM;

ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; FETAL DISEASES; HUMANS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; THANATOPHORIC DYSPLASIA; ULTRASONOGRAPHY, PRENATAL;

EID: 0032416575     PISSN: 03906663     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

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2. Martinez-Frias M. L., Ramos-Arroyo M. A., Salvador J.: "Thanatophoric dysplasia: An autosomal dominant condition?". Am. J. Med. Genet., 1988, 31, 815.
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5. Gerihauser H., Schuster C., Immervoll H., Sochor G.: "Prenatal diagnosis of thanatophoric dwarfism (Prenatale Diagnose eines thanatophoren Zwergwuchses). Ultraschall Med., 1992, 13, 41.
6. Goncalves L., Jeanty P.: "Fetal biometry of skeletal dysplasias: a multicentric study [corrected and republished article originally printed in J. Ultrasound Med. 1994 Oct.; 13 (10), 767-75]. J. Ultrasound Med., 1994, 13, 977.
7. Baker K. M., Olson D. S., Harding C. O., Pauli R. M.: "Long-term survival in typical thanatophoric dysplasia type 1". Am. J. Med. Genet., 1997, 70, 427.
8. Nerlich A. G., Freisinger P., Bonaventure J.: "Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3". Am. J. Med. Genet., 1996, 63, 155.