Literature DB >> 16925011

Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report.

Anthony L Maganzini1, Andrea Rios, Alan Shanske.   

Abstract

Bartsocas-Papas Syndrome (BPS) is a rare congenital disorder, first described in 1972. It is usually characterized by neonatal or intrauterine death, and, as such, only 26 cases have been reported. Physical manifestations such as antecubital and popliteal pterygia (webbing), syndactyly of fingers, toes and talipes are frequently reported. However, oral, facial, cranial and dental anomalies are often overlooked. This case focuses on the latter anomalies and the effect they have on the facial growth of a 5-year-old patient.

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Year:  2006        PMID: 16925011

Source DB:  PubMed          Journal:  N Y State Dent J        ISSN: 0028-7571


  1 in total

1.  Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Authors:  Ersan Kalay; Orhan Sezgin; Vasant Chellappa; Mehmet Mutlu; Heba Morsy; Hulya Kayserili; Elmar Kreiger; Aysegul Cansu; Bayram Toraman; Ebtesam Mohammed Abdalla; Yakup Aslan; Shiv Pillai; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025

  1 in total

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