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Article

Omphalocele in Miller-Dieker syndrome: expanding the phenotype.

American journal of medical genetics - 31 Mar 1997

Chitayat D, Toi A, Babul R, Blaser S, Moola S, Yarkoni D, Sermer M, Johnson J A, Vasjar J, Teshima I

Abstract excerpt

We report on a patient prenatally diagnosed with omphalocele, mild cerebral ventriculomegaly, nuchal fold thickening, and cystic changes in the umbilical cord who was found postnatally to have lissencephaly type I. Prenatal chromosome analysis showed a normal male karyotype; however, postnatal high resolution banding and FISH analysis, using a probe for locus D17S379 in chromosome region 17p13.3, demonstrated a...

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Identifiers

PMID: 9096760
DOI: 10.1002/(sici)1096-8628(19970331)69:3<293::aid-ajmg15>3.0.co;2-m

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Omphalocele in Miller-Dieker syndrome: expanding the phenotype.PMID 9096760Read ↗

Clinical and molecular diagnosis of Miller-Dieker syndrome.Semantic proximity Read ↗

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Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.Semantic proximity Read ↗

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[Prenatal diagnosis of a fetus with Miller-Dieker syndrome].Semantic proximity Read ↗

Miller-Dieker syndrome and trisomy 5p in a child carrying a derivative chromosome with a microdeletion in 17p13.3 telomeric to the LIS1 and the D17S379 loci.Semantic proximity Read ↗

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Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.Semantic proximity Read ↗

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