Literature DB >> 25954680

Tetra-phocomelia: a rarest of rare case.

Anil Kumar Shukla1, S C Sanjay2, L Krishna3, N Krishnappa4.   

Abstract

We present a rarest of rare case of Tetra-Phocomelia evaluated by antenatal Ultrasonography. It is a condition seen in 0.62 per 100,000 live births. An ultrasonogram was done at 18 wk of pregnancy to assess the fetus and after termination gross specimen was evaluated and X-ray infantograms were done to confirm the findings. The case showed classic Tetra-Phocomelia with limbs like flippers of a seal. Our findings make it rarest of rare as only few cases have been so far reported.

Entities:  

Keywords:  Flippers; Limbs; Phocomelia; Ultrasonogram

Year:  2015        PMID: 25954680      PMCID: PMC4413130          DOI: 10.7860/JCDR/2015/11630.5664

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  5 in total

1.  Fetal bilateral renal agenesis, phocomelia, and single umbilical artery associated with cocaine abuse in early pregnancy.

Authors:  Maki Kashiwagi; Rabih Chaoui; Thomas Stallmach; Sandra Hürlimann; Urs Lauper; Gundula Hebisch
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2003-11

2.  Foreshortened phantom limbs and phocomelia.

Authors:  S A WEISS
Journal:  JAMA       Date:  1963-03-23       Impact factor: 56.272

Review 3.  Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.

Authors:  Eva Bermejo-Sánchez; Lourdes Cuevas; Emmanuelle Amar; Sebastiano Bianca; Fabrizio Bianchi; Lorenzo D Botto; Mark A Canfield; Eduardo E Castilla; Maurizio Clementi; Guido Cocchi; Danielle Landau; Emanuele Leoncini; Zhu Li; R Brian Lowry; Pierpaolo Mastroiacovo; Osvaldo M Mutchinick; Anke Rissmann; Annukka Ritvanen; Gioacchino Scarano; Csaba Siffel; Elena Szabova; María-Luisa Martínez-Frías
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

4.  Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis.

Authors:  Muhammad Subhani; Gangaram Akangire; Archana Kulkarni; Golder N Wilson
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

5.  Roberts-SC Phocomelia Syndrome (Pseudothalidomide Syndrome): A Case Report.

Authors:  Farideh Keypour; Ilana Naghi; Babak Behnam
Journal:  J Family Reprod Health       Date:  2013-03
  5 in total

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