Literature DB >> 17351354

Hypotonia, developmental delay and features of scalp-ear-nipple syndrome in an inbred Arab family.

Lihadh Al-Gazali1, Raveendra Nath, Durdana Iram, Hadi Al Malik.   

Abstract

We report two children from an inbred Arab family with features suggestive of scalp-ear-nipple syndrome who in addition had severe hypotonia and developmental delay. Also addition, other features seen in scalp-ear-nipple syndrome such as camptodactyly, syndactyly and dry skin were absent in these children. We suggest the children in this report have a severe recessive form of this syndrome.

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Year:  2007        PMID: 17351354     DOI: 10.1097/MCD.0b013e3280147217

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  2 in total

1.  Mutations in KCTD1 cause scalp-ear-nipple syndrome.

Authors:  Alexander G Marneros; Anita E Beck; Emily H Turner; Margaret J McMillin; Matthew J Edwards; Michael Field; Nara Lygia de Macena Sobreira; Ana Beatriz A Perez; Jose A R Fortes; Anne K Lampe; Maria Luisa Giovannucci Uzielli; Christopher T Gordon; Ghislaine Plessis; Martine Le Merrer; Jeanne Amiel; Ernst Reichenberger; Kathryn M Shively; Felecia Cerrato; Brian I Labow; Holly K Tabor; Joshua D Smith; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2013-03-28       Impact factor: 11.025

2.  Scalp-ear-nipple syndrome: a case report.

Authors:  Estela Morales-Peralta; Vivian Andrés; Dainé Campillo Betancourt
Journal:  Case Rep Med       Date:  2014-02-09
  2 in total

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