Literature DB >> 3351893

A recognisable short stature syndrome with premature aging and pigmented naevi.

M Baraitser1, J Insley, R M Winter.   

Abstract

We report the progress up to the age of seven years of a small for dates baby whose face and neck are strikingly devoid of subcutaneous tissue and who has, in addition, multiple pigmented naevi.

Entities:  

Mesh：

Year:  1988        PMID： 3351893      PMCID： PMC1015425          DOI： 10.1136/jmg.25.1.53

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  3 in total

1.  Undiagnosed syndrome of psychomotor retardation, low birthweight dwarfism, skeletal, dental, dermal and genital anomalies.

Authors:  D E Elliott
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Another disorder with prenatal shortness of stature and premature aging.

Authors:  J J Mulvihill; D W Smith
Journal:  Birth Defects Orig Artic Ser       Date:  1975

3.  An unidentified syndrome with abnormality of skin and hair.

Authors:  M K Shepard
Journal:  Birth Defects Orig Artic Ser       Date:  1971-06
  3 in total
  2 in total

Review 1.  Mulvihill-Smith syndrome: case report and review.

Authors:  O Bartsch; K D Tympner; E Schwinger; R J Gorlin
Journal:  J Med Genet       Date:  1994-09       Impact factor: 6.318

Review 2.  The eleventh reported case of Mulvihill-Smith syndrome in the literature.

Authors:  Paulo Breinis; Flavio Geraldes Alves; Camila A E Alves; Rafael G Cintra; Débora Almeida; Priscila C Passarelli; Camila Domingues; Talita Gerbim; Régia Gasparetto; Luiz Carlos de Abreu; Vitor E Valenti; Adriana Gonçalves de Oliveira; Carlos Bandeira de Mello Monteiro; Rubens Wajnzstejn
Journal:  BMC Neurol       Date:  2014-01-07       Impact factor: 2.474
  2 in total

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