Literature DB >> 8933348

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

R Mingarelli1, A Castriota Scanderbeg, B Dallapiccola.   

Abstract

Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.

Entities:  

Mesh：

Year:  1996        PMID： 8933348      PMCID： PMC1050774          DOI： 10.1136/jmg.33.10.884

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


  5 in total

1.  Two male sibs with a previously unrecognized syndrome: facial dysmorphia, hyperextensibility of joints, clinodactyly, growth retardation and mental retardation.

Authors:  G Morillo-Cucci; E Passarge; J L Simpson; R S Chaganti; J German
Journal:  Birth Defects Orig Artic Ser       Date:  1975

Review 2.  Teebi hypertelorism syndrome: report of a third family.

Authors:  H V Toriello; K Delp
Journal:  Clin Dysmorphol       Date:  1994-10       Impact factor: 0.816

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

Authors:  F Carnevale; G Krajewska; R Fischetto; M G Greco; A Bonvino
Journal:  Am J Med Genet       Date:  1989-06

4.  Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)

Authors:  C Oley; M Baraitser
Journal:  J Med Genet       Date:  1988-01       Impact factor: 6.318

5.  Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

Authors:  N Philip; L Andrac; A Moncla; S Sigaudy; N Zanon; G Lena; M Choux
Journal:  Clin Dysmorphol       Date:  1995-10       Impact factor: 0.816
  5 in total
  9 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

Review 2.  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 3.  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

4.  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

5.  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

6.  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

7.  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

8.  COLEC10 is mutated in 3MC patients and regulates early craniofacial development.

Authors:  Mustafa M Munye; Anna Diaz-Font; Louise Ocaka; Maiken L Henriksen; Melissa Lees; Angela Brady; Dagan Jenkins; Jenny Morton; Soren W Hansen; Chiara Bacchelli; Philip L Beales; Victor Hernandez-Hernandez
Journal:  PLoS Genet       Date:  2017-03-16       Impact factor: 5.917

Review 9.  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
  9 in total

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