OBGY Radiology


Case 18
Antenatal scan. What is the diagnosis?
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Imaging Finding

Scan 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.


Diagnosis


Hydrocephalus with proboscis

Impression

Endometrial ossification (osseous metaplasia of endometrial tissue)


Discussion

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 flat nose.

Conclusion
Occurrence of proboscis is usually associated with holoprosencephaly. In this case, PM of baby revealed moderate ventriculomegaly, with normal posterior fossa, and no evidence of holoprosencephaly.


Dr. Sanjeev Mani,, Bandra Holy Family Hospital, Mumbai