title: Clinical features and outcomes of holoprosencephaly in Korea.
abstract: 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.
authors.affiliation: Department of Medical Genetics, Ajou University School of Medicine, Suwon, South Korea.
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Ko
authors.forename: Sung Hwan
authors.initials: SH
authors.lastname: Kim
mesh_terms: D001921:Brain / Q000473:pathology*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D005260:Female; D016142:Holoprosencephaly / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D011296:Prenatal Diagnosis; D056910:Republic of Korea; D012640:Seizures / Q000209:etiology / Q000235:genetics / Q000473:pathology*