Literature DB >> 7917132

Fraser (Cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but presence of normal eyelids.

R Pankau1, C J Partsch, U Jänig, R Meinecke.   

Abstract

A new case of Fraser syndrome with abnormalities of the genital, urinary and skeletal system is reported. The female newborn died shortly after birth. In contrast to cases of Fraser syndrome reported earlier and to widely accepted theories of eye development the present case presented with normal bilateral eyelids although no tissue of ophthalmic origin was found in the orbital cavities on histological examination.

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Year:  1994        PMID: 7917132

Source DB:  PubMed          Journal:  Genet Couns        ISSN: 1015-8146


  3 in total

1.  [Bilateral anophthalmia and left-sided orbital tumor : case of an eight-month-old infant].

Authors:  P Hundertmark; P Dierks; J Gottschalk; T Kreusch; W Wiegand
Journal:  Ophthalmologe       Date:  2011-08       Impact factor: 1.059

Review 2.  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

3.  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

  3 in total

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