Literature DB >> 3205375

Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system.

N Illum1, E Reske-Nielsen, F Skovby, S A Askjaer, A Bernsen.   

Abstract

Three children from a sibship of four had congenital contractures, scarce facial expressions, central nervous system dysfunction, and early death. Extensive deposits of calcium compounds were found at postmortem examination of the nervous system and of skeletal muscle. The disorder in these sibs is presumably inherited as an autosomal recessive trait. The metabolic basis for the calcium deposition has yet to be discovered.

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Year:  1988        PMID: 3205375     DOI: 10.1055/s-2008-1052443

Source DB:  PubMed          Journal:  Neuropediatrics        ISSN: 0174-304X            Impact factor:   1.947


  3 in total

1.  Calcification of the central nervous system in a new hereditary neurological syndrome.

Authors:  E Reske-Nielsen; P K Jensen; O Hein-Sørensen; K Abelskov
Journal:  Acta Neuropathol       Date:  1988       Impact factor: 17.088

2.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

Authors:  Jessica X Chong; Margaret J McMillin; Kathryn M Shively; Anita E Beck; Colby T Marvin; Jose R Armenteros; Kati J Buckingham; Naomi T Nkinsi; Evan A Boyle; Margaret N Berry; Maureen Bocian; Nicola Foulds; Maria Luisa Giovannucci Uzielli; Chad Haldeman-Englert; Raoul C M Hennekam; Paige Kaplan; Antonie D Kline; Catherine L Mercer; Malgorzata J M Nowaczyk; Jolien S Klein Wassink-Ruiter; Elizabeth W McPherson; Regina A Moreno; Angela E Scheuerle; Vandana Shashi; Cathy A Stevens; John C Carey; Arnaud Monteil; Philippe Lory; Holly K Tabor; Joshua D Smith; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2015-02-12       Impact factor: 11.025

3.  Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report.

Authors:  Zoran S Gucev; Nada Pop-Jordanova; Gordana Dumalovska; Orhideja Stomnaroska; Gorgji Zafirovski; Velibor B Tasic
Journal:  Cases J       Date:  2009-12-30
  3 in total

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