Facial dysmorphisms associated with holoprosencephaly / 대한산부인과학회지

ABSTRACT

OBJECTIVE: The purpose of this study is to determine and classify holoprosencephlay with the associated facial abnormalities. METHODS: This was a retrospective study in which were reviewed the sonographic findings in correlation with the clinical and pathologic data of fetuses or neonates identified with holoprosencephaly at the Department of Obstetrics and Gynecology of the Catholic University in the period 1995-2007. RESULTS: Twelve cases with a Holoprosencephaly were found. Mean gestational age at diagnosis and delivery was 28 weeks of pregnancy (range from 14 to 41 weeks). Modes of delivery were 8 cases of preterm spontaneous delivery, 2 cases of missed abortion, 1 case of normal fullterm spontaneous delivery, and 1 case of full term cesarean delivery. Associated facial anomalies were present in 9/12 cases (75%) which involved with cyclopia, proboscis, cleft lip and palate, ethomocephaly and otocephaly. Among those anomalies, abnormal karyotypes were 3/6 cases (50%). CONCLUSIONS: When a midline brain anomaly is detected by antenatal sonography, accurate sonographic analysis of midline facial defect may allow more definitive diagnosis of holoprosencephaly, and the outcome of affected fetuses often have other major structural abnormalities and nearly always fatal.