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Literature DB >> 18334805

Fraser-cryptophthalmos syndrome with colonic atresia.

Manish Narang¹, Manish Kumar, Dheeraj Shah.

Abstract

Fraser cryptophthalmos syndrome is a severe genetic disorder comprising of cryptophthalmos, syndactyly and genitourinary abnormalities. Gastrointestinal malformations are also increasingly being described. We describe a neonate with this syndrome having colonic atresia leading to cecal rupture and pneumoperitoneum.

Entities: Disease

Mesh：

Year: 2008 PMID： 18334805 DOI： 10.1007/s12098-008-0030-9

Source DB: PubMed Journal: Indian J Pediatr ISSN： 0019-5456 Impact factor: 1.967

8 in total

1. ENT manifestations of Fraser syndrome.

Authors: G R Ford; R M Irving; N S Jones; C M Bailey
Journal: J Laryngol Otol Date: 1992-01 Impact factor: 1.469

2. Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).

Authors: J P Fryns; D van Schoubroeck; K Vandenberghe; H Nagels; P Klerckx
Journal: Prenat Diagn Date: 1997-06 Impact factor: 3.050

Review 3. 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

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. Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks.

Authors: G M Schauer; L K Dunn; L Godmilow; R C Eagle; A S Knisely
Journal: Am J Med Genet Date: 1990-12

Review 6. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.

Authors: A M Slavotinek; C J Tifft
Journal: J Med Genet Date: 2002-09 Impact factor: 6.318

7. 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

8. Fraser syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with postmortem findings.

Authors: P A Boyd; J W Keeling; R H Lindenbaum
Journal: Am J Med Genet Date: 1988-09