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Journal of Obstetrics and Gynaecology Volume 20, 2000 - Issue 5
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Research Article

Review of the diagnosis and transmission of thanatophoric dysplasia and report of a familial case with three affected siblings

O. Osoba, N. L. Aziz, U. Krishnamoorthy Royal Oldham Hospital, UK
Pages 540-541 | Published online: 02 Jul 2009

Citations (5)

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Read on this site (1)

Jeon Soo-kyeong, Narae Lee, Mi Hye Bae, Young Mi Han, Kyung Hee Park & Shin Yun Byun. (2018) Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months. Fetal and Pediatric Pathology 37:5, pages 363-371.
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Articles from other publishers (4)

Sumire Terasawa, Asuka Kato, Haruki Nishizawa, Takema Kato, Hikari Yoshizawa, Yoshiteru Noda, Jun Miyazaki, Mayuko Ito, Takao Sekiya, Takuma Fujii & Hiroki Kurahashi. (2019) Multiplex PCR in noninvasive prenatal diagnosis for FGFR3 -related disorders . Congenital Anomalies 59:1, pages 4-10.
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Christina Vogt & Harm-Gerd K. Blaas. (2015) Thanatophoric Dysplasia: Autopsy Findings over a 25-Year Period. Pediatric and Developmental Pathology 16:3, pages 160-167.
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H.-G. K. Blaas, C. Vogt & S. H. Eik-Nes. (2012) Abnormal gyration of the temporal lobe and megalencephaly are typical features of thanatophoric dysplasia and can be visualized prenatally by ultrasound. Ultrasound in Obstetrics & Gynecology 40:2, pages 230-234.
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G. Martin & J.G. Johnson. (2006) The role of ultrasound in the accurate diagnosis of a case of thanatophoric dysplasia. Radiography 12:3, pages 258-263.
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