Literature DB >> 11208408

Additional case of Keipert syndrome and review of the literature.

S M Cappon1, M M Khalifa.   

Abstract

We report on a 7-year-old boy with unusual facial features, severe bilateral sensorineural hearing loss, and broad terminal phalanges. These findings are similar to those described by Keipert et al. in two brothers and by Balci and Dagli in two other male siblings. Our patient has, in addition, developmental delay and abnormal behaviour. To the best of our knowledge, this is only the third report of Keipert syndrome.

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Year:  2000        PMID: 11208408

Source DB:  PubMed          Journal:  Med Sci Monit        ISSN: 1234-1010


  1 in total

1.  Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Authors:  David J Amor; Sarah E M Stephenson; Mirna Mustapha; Martin A Mensah; Charlotte W Ockeloen; Wei Shern Lee; Rick M Tankard; Dean G Phelan; Marwan Shinawi; Arjan P M de Brouwer; Rolph Pfundt; Cari Dowling; Tomi L Toler; V Reid Sutton; Emanuele Agolini; Martina Rinelli; Rossella Capolino; Diego Martinelli; Giuseppe Zampino; Miroslav Dumić; William Reardon; Charles Shaw-Smith; Richard J Leventer; Martin B Delatycki; Tjitske Kleefstra; Stefan Mundlos; Geert Mortier; Melanie Bahlo; Nicola J Allen; Paul J Lockhart
Journal:  Am J Hum Genet       Date:  2019-04-11       Impact factor: 11.025

  1 in total

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