Literature DB >> 2569826

Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs.

F Carnevale1, G Krajewska, R Fischetto, M G Greco, A Bonvino.   

Abstract

We report a distinct syndrome of eyelid ptosis, convergent strabismus, abdominal muscle defect, hip dislocation, cryptorchidism and developmental delay in two brothers. Consanguinity in their parents suggests autosomal recessive inheritance.

Entities:  

Mesh：

Year:  1989        PMID： 2569826     DOI： 10.1002/ajmg.1320330210

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


  10 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.  Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).

Authors:  R Mingarelli; A Castriota Scanderbeg; B Dallapiccola
Journal:  J Med Genet       Date:  1996-10       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.  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

6.  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

7.  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

8.  Genetic variation of COLEC10 and COLEC11 and association with serum levels of collectin liver 1 (CL-L1) and collectin kidney 1 (CL-K1).

Authors:  Rafael Bayarri-Olmos; Soren Hansen; Maiken Lumby Henriksen; Line Storm; Steffen Thiel; Peter Garred; Lea Munthe-Fog
Journal:  PLoS One       Date:  2015-02-24       Impact factor: 3.240

9.  Developmental activities of the complement pathway in migrating neurons.

Authors:  Anna Gorelik; Tamar Sapir; Rebecca Haffner-Krausz; Tsviya Olender; Trent M Woodruff; Orly Reiner
Journal:  Nat Commun       Date:  2017-05-02       Impact factor: 14.919

Review 10.  Association of Polymorphisms of MASP1/3, COLEC10, and COLEC11 Genes with 3MC Syndrome.

Authors:  Gabriela Gajek; Anna S Świerzko; Maciej Cedzyński
Journal:  Int J Mol Sci       Date:  2020-07-31       Impact factor: 5.923
  10 in total

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