Literature DB >> 28224438

Ultrasound diagnosis of fetal thanatophoric skeletal dysplasia: Three cases report and a brief review.

Qing-Hong Zhao1, Hua Shi1, Jia-Qi Hu1, Dan Wang1, Gui Fang1, Yu-Guo Zhang1, Yan-Qing Wang1, Jing Yang2.   

Abstract

Congenital skeletal deformity of fetus varies and may be attributed to a range of reasons. Congenital skeletal deformity seriously affects body function or even leads to neonatal death directly. The disease brings great pain to victim and their family. We reviewed the fetal prenatal ultrasonic data conducted during period from Jan. 2013 to June 2016, and there were 84 fetuses with skeletal abnormalities among 12 000 cases, and 3 fetuses with thanatophoric dysplasia. Our report described and reviewed three common types of thanatophoric dysplasia, aiming to explore the value of standardized prenatal ultrasonic diagnosis of fetal abnormalities in the skeletal system.

Entities:  

Keywords:  congenital skeletal deformity; fetal prenatal ultrasound; fetal skeletal system

Mesh:

Year:  2017        PMID: 28224438     DOI: 10.1007/s11596-017-1708-x

Source DB:  PubMed          Journal:  J Huazhong Univ Sci Technolog Med Sci        ISSN: 1672-0733


  7 in total

1.  Prenatal sonographic diagnosis of skeletal dysplasias. A report of 47 cases.

Authors:  B Doray; R Favre; B Viville; B Langer; M Dreyfus; C Stoll
Journal:  Ann Genet       Date:  2000 Jul-Dec

Review 2.  First-trimester ultrasound diagnosis of skeletal dysplasia associated with increased nuchal translucency thickness.

Authors:  C Ngo; G Viot; M C Aubry; V Tsatsaris; G Grange; D Cabrol; E Pannier
Journal:  Ultrasound Obstet Gynecol       Date:  2007-08       Impact factor: 7.299

Review 3.  Classification of Osteogenesis Imperfecta revisited.

Authors:  F S Van Dijk; G Pals; R R Van Rijn; P G J Nikkels; J M Cobben
Journal:  Eur J Med Genet       Date:  2009-10-28       Impact factor: 2.708

4.  Thanatophoric dwarfism. A condition confused with achondroplasia in the neonate, with brief comments on achondrogenesis and homozygous achondroplasia.

Authors:  L O Langer; J W Spranger; I Greinacher; R C Herdman
Journal:  Radiology       Date:  1969-02       Impact factor: 11.105

5.  Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases.

Authors:  E Barkova; U Mohan; D Chitayat; S Keating; A Toi; J Frank; R Frank; G Tomlinson; P Glanc
Journal:  Clin Genet       Date:  2014-07-26       Impact factor: 4.438

Review 6.  The diagnosis of skeletal dysplasias: a multidisciplinary approach.

Authors:  G R Mortier
Journal:  Eur J Radiol       Date:  2001-12       Impact factor: 3.528

Review 7.  Nosology and classification of genetic skeletal disorders: 2010 revision.

Authors:  Matthew L Warman; Valerie Cormier-Daire; Christine Hall; Deborah Krakow; Ralph Lachman; Martine LeMerrer; Geert Mortier; Stefan Mundlos; Gen Nishimura; David L Rimoin; Stephen Robertson; Ravi Savarirayan; David Sillence; Juergen Spranger; Sheila Unger; Bernhard Zabel; Andrea Superti-Furga
Journal:  Am J Med Genet A       Date:  2011-03-15       Impact factor: 2.802

  7 in total

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