Literature DB >> 2155726

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

M Ramsing1, H Rehder, W Holzgreve, P Meinecke, W Lenz.   

Abstract

Clinical and autopsy findings in two fetuses and one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal-recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbance.

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Mesh：

Year:  1990        PMID： 2155726     DOI： 10.1111/j.1399-0004.1990.tb03484.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 in total

Review 1.  Rehabilitation of a child with partial unilateral cryptophthalmos and multiple congenital anomalies.

Authors:  H Konrad; J C Merriam; I S Jones
Journal:  Trans Am Ophthalmol Soc       Date:  1995

2.  Fraser Syndrome - a Case Report and Review of Literature.

Authors:  Adrian Dumitru; Mariana Costache; Anca Mihaela Lazaroiu; George Simion; Diana Secara; Monica Cirstoiu; Alina Emanoil; Tiberiu Augustin Georgescu; Maria Sajin
Journal:  Maedica (Bucur)       Date:  2016-03

3.  New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.

Authors:  J R Bierich; M Christie; J J Heinrich; A S Martinez
Journal:  Eur J Pediatr       Date:  1991-02       Impact factor: 3.183

Review 4.  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

5.  Cryptorchidism, micropenis and clinical anophthalmia epilepsy in a retarded boy.

Authors:  K Izumiya; T Nakada
Journal:  Int Urol Nephrol       Date:  1996       Impact factor: 2.370

Review 6.  Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature.

Authors:  Thomas Bjørsum-Meyer; Morten Herlin; Niels Qvist; Michael B Petersen
Journal:  J Med Case Rep       Date:  2016-12-21
  6 in total

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