Fraser-cryptophthalmos syndrome.

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dc.contributor.authorKabra, Men_US
dc.contributor.authorGulati, Sen_US
dc.contributor.authorGhosh, Men_US
dc.contributor.authorMenon, P Sen_US
dc.date.accessioned2000-10-06en_US
dc.date.accessioned2009-05-30T13:52:45Z
dc.date.available2000-10-06en_US
dc.date.available2009-05-30T13:52:45Z
dc.date.issued2000-10-06en_US
dc.description12 references.en_US
dc.description.abstractFraser or Cryptophthalmos syndrome is a variable syndrome to the extent that cryptophthalmos might not be present in all cases. However, the main features are a "hidden eye", other craniofacial abnormalities, renal abnormalities, syndactyly and abnormal genitalia. It may be classified as isolated cryptophthalmos or cryptophthalmos sequence and cryptophthalmos syndrome. The cryptophthalmos syndrome has an autosomal recessive mode of inheritance. Isolated cryptophthalmos has been reported as an autosomal dominant trait. Prenatal diagnosis is possible using ultrasonography and fetoscopy. We report three cases of cryptophthalmos. One with renal agenesis had cryptophthalmos syndrome and the other two had isolated cryptophthalmos or cryptophthalmos sequence.en_US
dc.description.affiliationDepartment of Pediatrics, All India Institute of Medical Sciences, New Delhi.en_US
dc.identifier.citationKabra M, Gulati S, Ghosh M, Menon PS. Fraser-cryptophthalmos syndrome. Indian Journal of Pediatrics. 2000 Oct; 67(10): 775-8en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/82118
dc.language.isoengen_US
dc.source.urihttps://medind.nic.in/icb/icbai.shtmlen_US
dc.subject.meshAbnormalities, Multiple --diagnosisen_US
dc.subject.meshCraniofacial Abnormalities --diagnosisen_US
dc.subject.meshEye Abnormalities --diagnosisen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshKidney --abnormalitiesen_US
dc.subject.meshMaleen_US
dc.subject.meshSyndactyly --diagnosisen_US
dc.subject.meshSyndromeen_US
dc.titleFraser-cryptophthalmos syndrome.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
dc.typeReviewen_US
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