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Clinical features and outcomes of holoprosencephaly in Korea.

Ko, JM; Kim, SH
Pediatric neurology, 43(4):245-252, 2010
Journal Title
Pediatric neurology
The clinical spectrum of holoprosencephaly is broad, and its etiology is heterogeneous. To investigate the clinical spectrum of holoprosencephaly in Korea, we performed a database analysis of 55 cases of holoprosencephaly, including 12 diagnosed postnatally, all from a single institution. The 55 patients were categorized into several types: 37 alobar, eight semilobar, eight lobar, and two middle interhemispheric variant. Associated brain (41.8%) and craniofacial (74.5%) features varied substantially. Of 40 patients studied according to karyotype, chromosomal aberrations were detected in 18 (45.0%). Twenty-seven (49.1%) patients, diagnosed postnatally, exhibited milder types of holoprosencephaly and less profound craniofacial malformations than in prenatal diagnoses. Moreover, in postnatally diagnosed patients, the subgroup surviving longer than 1 month also exhibited a milder holoprosencephaly type and lower incidence of associated craniofacial malformations. The most frequent clinical signs in living children with holoprosencephaly included microcephaly, global developmental delay, and seizures. Holoprosencephaly represents a heterogeneous entity with different clinical manifestations and etiologies. A high index of suspicion, coupled with appropriate imaging studies, can enable accurate diagnoses and prognoses of holoprosencephaly.
MeSH terms
Brain/*pathologyChild, PreschoolDevelopmental Disabilities/etiology/genetics/*pathologyFemaleHoloprosencephaly/complications/genetics/*pathologyHumansInfantInfant, NewbornKaryotypingMagnetic Resonance ImagingMalePrenatal DiagnosisRepublic of KoreaSeizures/etiology/genetics/*pathology
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
고, 정민김, 성환
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