Literature DB >> 12622018

Infant with high arched palate, bell-shaped chest, joint contractures, and intrauterine fractures.

Atilano G Lacson1, Gail Donaldson, Enid Gilbert Barness, Judith D Ranells, Herbert H Pomerance.   

Abstract

A case is presented of a female newborn infant delivered with an Apgar Score of 1, who could not be resuscitated. There was a high arched palate, bell-shaped chest, contractures of writes inflexion, ankles and knees in extension, and intrauterine fractures. Clinical discussion led to a diagnosis of arthrogryposis secondary to fetal akinesia syndrome caused by nemaline myopathy. Pathology and pathologic discussion confirmed this diagnosis.

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Year:  2002        PMID: 12622018     DOI: 10.1080/pdp.21.6.569.584

Source DB:  PubMed          Journal:  Pediatr Pathol Mol Med        ISSN: 1522-7952


  2 in total

1.  Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy.

Authors:  Megan Abbott; Mahim Jain; Rachel Pferdehirt; Yuqing Chen; Alyssa Tran; Mehmet B Duz; Mehmet Seven; Richard A Gibbs; Donna Muzny; Brendan Lee; Ronit Marom; Lindsay C Burrage
Journal:  Am J Med Genet A       Date:  2017-08-16       Impact factor: 2.802

2.  Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Authors:  Gianina Ravenscroft; Satoko Miyatake; Vilma-Lotta Lehtokari; Emily J Todd; Pauliina Vornanen; Kyle S Yau; Yukiko K Hayashi; Noriko Miyake; Yoshinori Tsurusaki; Hiroshi Doi; Hirotomo Saitsu; Hitoshi Osaka; Sumimasa Yamashita; Takashi Ohya; Yuko Sakamoto; Eriko Koshimizu; Shintaro Imamura; Michiaki Yamashita; Kazuhiro Ogata; Masaaki Shiina; Robert J Bryson-Richardson; Raquel Vaz; Ozge Ceyhan; Catherine A Brownstein; Lindsay C Swanson; Sophie Monnot; Norma B Romero; Helge Amthor; Nina Kresoje; Padma Sivadorai; Cathy Kiraly-Borri; Goknur Haliloglu; Beril Talim; Diclehan Orhan; Gulsev Kale; Adrian K Charles; Victoria A Fabian; Mark R Davis; Martin Lammens; Caroline A Sewry; Adnan Manzur; Francesco Muntoni; Nigel F Clarke; Kathryn N North; Enrico Bertini; Yoram Nevo; Ekkhard Willichowski; Inger E Silberg; Haluk Topaloglu; Alan H Beggs; Richard J N Allcock; Ichizo Nishino; Carina Wallgren-Pettersson; Naomichi Matsumoto; Nigel G Laing
Journal:  Am J Hum Genet       Date:  2013-06-06       Impact factor: 11.025

  2 in total

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