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A NEW CASE OF HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME WITH ALOBAR HOLOPROSENCEPHALY, PREAXIAL POLYDACTYLY AND CONGENITAL GLAUCOMA

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dc.creator Sandal, G.
dc.creator Ormeci, A. R.
dc.creator Tok, L.
dc.date 2014-01-01T01:00:00Z
dc.date.accessioned 2021-12-03T11:32:35Z
dc.date.available 2021-12-03T11:32:35Z
dc.identifier 9813a2f7-6044-4316-b409-31257f631f0b
dc.identifier https://avesis.sdu.edu.tr/publication/details/9813a2f7-6044-4316-b409-31257f631f0b/oai
dc.identifier.uri http://acikerisim.sdu.edu.tr/xmlui/handle/123456789/93491
dc.description We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th-25th centile) and head circumference 27cm (<10th centile). Clinical examination revealed microcephaly, hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears, a short neck, preaxial polydactyly of the right hand, and overriding toes. Investigations showed bilateral congenital glaucoma, alobar holoprosencephaly, severe ventriculomegaly and absence midline structures of the brain, a large atrial septal defect. The karyotype was 46,XX. The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism (hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears) and normal karyotype.
dc.language eng
dc.rights info:eu-repo/semantics/closedAccess
dc.title A NEW CASE OF HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME WITH ALOBAR HOLOPROSENCEPHALY, PREAXIAL POLYDACTYLY AND CONGENITAL GLAUCOMA
dc.type info:eu-repo/semantics/article


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