Literature DB >> 10482884

Two sibs with Malpuech syndrome.

G Crisponi1, A R Marras, A Corrias.   

Abstract

We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical hernia. We have evaluated the two cases as Malpuech syndrome. This is an extremely rare autosomal recessive syndrome. Copyright 1999 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  1999        PMID： 10482884     DOI： 10.1002/(sici)1096-8628(19990917)86:3<294::aid-ajmg20>3.0.co;2-2

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Authors:  Asli Sirmaci; Tom Walsh; Hatice Akay; Michail Spiliopoulos; Yıldırım Bayezit Sakalar; Aylin Hasanefendioğlu-Bayrak; Duygu Duman; Amjad Farooq; Mary-Claire King; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

2.  Proposed caudal appendage classification system; spinal cord tethering associated with sacrococcygeal eversion.

Authors:  C Corbett Wilkinson; Arianne J Boylan
Journal:  Childs Nerv Syst       Date:  2016-08-06       Impact factor: 1.475
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.