Literature DB >> 25859493

Tetra-phocomelia: the seal limb deformity - a case report.

Sunil Kumar Samal1, Setu Rathod1, Seetesh Ghose2.   

Abstract

We report a case of term live baby with tetra-phocomelia born to a 35-year-old G3P2L2A0 with history of consanguineous marriage. She was an unbooked case from a tribal community with no previous antenatal visits. At 39 wk of gestation, she was admitted to our hospital with complaint of pain abdomen and on examination was found to be in second stage of labour. She delivered vaginally a term live 2.5 kg female baby with multiple anomalies. There was no history of drug intake, radiation exposure, maternal diabetes or family history of congenital anomalies to support the occurrence of tetra-phocomelia in this baby. The neonate also had multiple facial abnormalities like hypertelorism, microretrognathia and partial cleft palate. Further investigations revealed no abnormalities of internal organs. At present the baby is being followed up at our paediatric department. The case is reported owing to its rarity and term live birth.

Entities:  

Keywords:  Consanguinity; Musculoskeletal malformation; Thalidomide

Year:  2015        PMID: 25859493      PMCID: PMC4378775          DOI: 10.7860/JCDR/2015/9118.5508

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


  6 in total

1.  Phocomelia: report of three cases.

Authors:  F J COODIN; I A UCHIDA; C H MURPHY
Journal:  Can Med Assoc J       Date:  1962-10-06       Impact factor: 8.262

2.  Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.

Authors:  S A Al-Awadi; A S Teebi; T I Farag; K M Naguib; M Y el-Khalifa
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

3.  Thalidomide induces limb defects by preventing angiogenic outgrowth during early limb formation.

Authors:  Christina Therapontos; Lynda Erskine; Erin R Gardner; William D Figg; Neil Vargesson
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-11       Impact factor: 11.205

4.  The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

Authors:  Elaine Suk-Ying Goh; Chumei Li; Sheri Horsburgh; Yumi Kasai; Elena Kolomietz; Chantal France Morel
Journal:  Am J Med Genet A       Date:  2010-02       Impact factor: 2.802

5.  Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies.

Authors:  Esma Alp; Hayrullah Alp; Mehmet Emre Atabek; Özgür Pirgon
Journal:  J Clin Res Pediatr Endocrinol       Date:  2010-02-09

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

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

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