Literature DB >> 6660246

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies.

G Malpuech, F Demeocq, J B Palcoux, P Vanlieferinghen.   

Abstract

In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.

Entities:  

Mesh：

Year:  1983        PMID： 6660246     DOI： 10.1002/ajmg.1320160405

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


  13 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.  Prevalence of congenital anomaly syndromes in a Spanish gypsy population.

Authors:  M L Martínez-Frías; E Bermejo
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

Review 3.  Zebrafish models of orofacial clefts.

Authors:  Kaylia M Duncan; Kusumika Mukherjee; Robert A Cornell; Eric C Liao
Journal:  Dev Dyn       Date:  2017-09-25       Impact factor: 3.780

Review 4.  Disease-causing mutations in genes of the complement system.

Authors:  Søren E Degn; Jens C Jensenius; Steffen Thiel
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

5.  An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

Authors:  A Giannotti; M C Digilio; R Mingarelli; B Dallapiccola
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

6.  The x-ray crystal structure of mannose-binding lectin-associated serine proteinase-3 reveals the structural basis for enzyme inactivity associated with the Carnevale, Mingarelli, Malpuech, and Michels (3MC) syndrome.

Authors:  Tang Yongqing; Pascal G Wilmann; Shane B Reeve; Theresa H Coetzer; A Ian Smith; James C Whisstock; Robert N Pike; Lakshmi C Wijeyewickrema
Journal:  J Biol Chem       Date:  2013-06-21       Impact factor: 5.157

7.  Further Expansion of the Mutational Spectrum of 3MC Syndrome: A Novel MASP1 Pathogenic Variant in a Male Patient.

Authors:  Nihat Bugra Agaoglu; Ozlem Akgun Dogan
Journal:  Mol Syndromol       Date:  2021-08-31

Review 8.  Acro-cardio-facial syndrome.

Authors:  Maria Cristina Digilio; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2010-09-29       Impact factor: 4.123

9.  Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?

Authors:  G Wolff; E Zimmermann; B Zimmerhackl; C Harnasch; C Jung; E Back
Journal:  J Med Genet       Date:  1994-01       Impact factor: 6.318

10.  Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.

Authors:  Caroline Rooryck; Anna Diaz-Font; Daniel P S Osborn; Elyes Chabchoub; Victor Hernandez-Hernandez; Hanan Shamseldin; Joanna Kenny; Aoife Waters; Dagan Jenkins; Ali Al Kaissi; Gabriela F Leal; Bruno Dallapiccola; Franco Carnevale; Maria Bitner-Glindzicz; Melissa Lees; Raoul Hennekam; Philip Stanier; Alan J Burns; Hilde Peeters; Fowzan S Alkuraya; Philip L Beales
Journal:  Nat Genet       Date:  2011-01-23       Impact factor: 38.330
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