|Antenatal scan. What is the diagnosis?|
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reveals presence of hydrocephalus, with normal septum pellucidum, and
a soft tissue tongue-like appendage at the supra-orbital region, at the
medial aspect of the left orbit.
Endometrial ossification (osseous metaplasia of endometrial tissue)
Facial anomalities are frequently associated with holoprosencephalyc (HP) but even in severe alobar HP may not always be present. DeMeyer reported that 17% of patients with alobar HP had a normal face. Facial anomalies and are caused by incomplete cleavage during embryologic development. The degree of facial dysmorphism tends to parallel the severity of the HP.
Cyclopia is characterized by fused (single eye) or nearly fused orbits , arhinia and a supraorbital proboscis. A proboscis is a soft tissue trunk-like appendage that is almost inevitably part of the HP sequence. Ethmocephaly consists of a high midline proboscis, located at the root of the nose, separating narrow-set eyes with an absent nose (Fig.7). These features can be associated with abnormal smallness of one or both eyes, called as microphthalmia, or anophthalmia.
Cebocephaly is characterized
by a small, flattened nose with a single nostril situated below incomplete
or underdeveloped closely set eyes. The least severe in he spectrum of
facial anomalies is median cleft lip also called premaxillary agenesis.
The median cleft lip is frequently associated with closely set eyes and