Prenatal diagnosis of cyclopia and proboscis in a fetus with normal chromosome at 13 weeks of gestation by three-dimensional transabdominal sonography

New Classification Scheme of Proboscis Lateralis Based on a Review of 50 Cases

“…Seventeen cases were identified as hypotelorism, and all cases also presented as holoprosencephaly (Table 3). These cases were all stillborn or died at an early age (Gitlin and Behar, 1960; Schinzel et al, 1984; Nyberg et al, 1987; Souza et al, 1990; Galguera et al, 1996; Chen et al, 1999; Situ et al, 2002; Boahene et al, 2005; Cho et al, 2005; Granto et al, 2005).…”

True Cyclopia and Proboscis: an Interesting Prenatal Condition with Normal Nose

“…Our case report offers these insights. It is characterized by a serious median faciocerebral development deformity and craniofacial abnormalities, such as mild microcephaly with a single central incisor [2]. The absence of the facial midline bones above the maxilla and the presence of a proboscis as a nose-like structure above the cyclopic eye both mean that there is a developmental defect in the fronto-nasal facial process of this fetus.…”

“…The etiology is not well known. Suggested risk factors include chromosomal abnormalities, potentially teratogenic environmental factors during organogenesis, infections during pregnancy (TORCH), or drugs taken during pregnancy (alcohol, aspirin, lithium, anticonvulsants, hormones, retinoic acid, anticancer agents and fertility drugs) have all been regarded as the basis of this anomaly [1,2,3]. In this case there were no potential risk factors or genetic disorder.…”

Fetal Facial Abnormalities: From 2D Sonography to HDlive and HDlive Silhouette Mode

“…Despite its limitations and difficulties to evaluate the fetal face, many articles have described the visualization of various fetal facial structures and detection of numerous facial anomalies using 2D sonography at different gestational ages. [19][20][21][22][23][24][25][26]…”