Literature DB >> 28465758

Fraser Syndrome - a Case Report and Review of Literature.

Adrian Dumitru1, Mariana Costache1, Anca Mihaela Lazaroiu1, George Simion1, Diana Secara2, Monica Cirstoiu3, Alina Emanoil2, Tiberiu Augustin Georgescu1, Maria Sajin1.   

Abstract

Fraser syndrome is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. In total, about 150 affected patients have been described in the literature. The diagnosis of this syndrome can be established after clinical examination. We present the clinical findings of a rare case of Fraser syndrome with lethal phenotype due to bilateral renal agenesis in a female stillborn.

Entities:  

Year:  2016        PMID: 28465758      PMCID: PMC5394498     

Source DB:  PubMed          Journal:  Maedica (Bucur)        ISSN: 1841-9038


  12 in total

Review 1.  Isolated and syndromic cryptophthalmos.

Authors:  I T Thomas; J L Frias; V Felix; L Sanchez de Leon; R A Hernandez; M C Jones
Journal:  Am J Med Genet       Date:  1986-09

2.  Fraser syndrome: a clinical study of 59 cases and evaluation of diagnostic criteria.

Authors:  Mieke M van Haelst; Peter J Scambler; Raoul C M Hennekam
Journal:  Am J Med Genet A       Date:  2007-12-15       Impact factor: 2.802

3.  Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

Authors:  Denny Schanze; Hülya Kayserili; Bilge N Satkın; Umut Altunoglu; Martin Zenker
Journal:  Am J Med Genet A       Date:  2013-12-19       Impact factor: 2.802

Review 4.  The clinical spectrum of the Fraser syndrome: report of three new cases and review.

Authors:  J Gattuso; M A Patton; M Baraitser
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

5.  Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

Authors:  Shalini Jadeja; Ian Smyth; Jolanta E Pitera; Martin S Taylor; Mieke van Haelst; Elizabeth Bentley; Lesley McGregor; Jason Hopkins; Georges Chalepakis; Nicole Philip; Antonio Perez Aytes; Fiona M Watt; Susan M Darling; Ian Jackson; Adrian S Woolf; Peter J Scambler
Journal:  Nat Genet       Date:  2005-04-17       Impact factor: 38.330

6.  Fraser syndrome with renal agenesis in two consanguineous Turkish families.

Authors:  C Francannet; P Lefrançois; P Dechelotte; E Robert; G Malpuech; J M Robert
Journal:  Am J Med Genet       Date:  1990-08

Review 7.  Prenatal detection of Fraser syndrome without cryptophthalmos: case report and review of the literature.

Authors:  C Berg; A Geipel; U Germer; A Pertersen-Hansen; M Koch-Dörfler; U Gembruch
Journal:  Ultrasound Obstet Gynecol       Date:  2001-07       Impact factor: 7.299

8.  Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

Authors:  M Ramsing; H Rehder; W Holzgreve; P Meinecke; W Lenz
Journal:  Clin Genet       Date:  1990-02       Impact factor: 4.438

9.  Fraser syndrome: epidemiological study in a European population.

Authors:  Ingeborg Barisic; Ljubica Odak; Maria Loane; Ester Garne; Diana Wellesley; Elisa Calzolari; Helen Dolk; Marie-Claude Addor; Larraitz Arriola; Jorieke Bergman; Sebastiano Bianca; Patricia A Boyd; Elizabeth S Draper; Miriam Gatt; Martin Haeusler; Babak Khoshnood; Anna Latos-Bielenska; Bob McDonnell; Anna Pierini; Judith Rankin; Anke Rissmann; Annette Queisser-Luft; Christine Verellen-Dumoulin; David Stone; Romano Tenconi
Journal:  Am J Med Genet A       Date:  2013-03-26       Impact factor: 2.802

10.  Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

Authors:  Lesley McGregor; Ville Makela; Susan M Darling; Sofia Vrontou; Georges Chalepakis; Catherine Roberts; Nicola Smart; Paul Rutland; Natalie Prescott; Jason Hopkins; Elizabeth Bentley; Alison Shaw; Emma Roberts; Robert Mueller; Shalini Jadeja; Nicole Philip; John Nelson; Christine Francannet; Antonio Perez-Aytes; Andre Megarbane; Bronwyn Kerr; Brandon Wainwright; Adrian S Woolf; Robin M Winter; Peter J Scambler
Journal:  Nat Genet       Date:  2003-06       Impact factor: 38.330

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  2 in total

1.  Bilateral anophthalmia and intrahepatic biliary atresia, two unusual components of Fraser syndrome: a case report.

Authors:  Muhamad Zakaria Brimo Alsaman; Sarab Agha; Hala Sallah; Rayan Badawi; Mohammad Nour Kitaz; Abdullah Assani; Hamdi Nawfal
Journal:  BMC Pregnancy Childbirth       Date:  2020-06-10       Impact factor: 3.007

2.  Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report.

Authors:  Aimé Mbonda; Francky Teddy Endomba; Ulrick S Kanmounye; Jan René Nkeck; Joel Noutakdie Tochie
Journal:  BMC Pediatr       Date:  2019-08-22       Impact factor: 2.125

  2 in total

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