Newborn with anophthalmia and features of Fryns syndrome

Abstract

We report a newborn female with craniofacial malformations, bilateral anophthalmia, large abnormally shaped ears, short neck, small distal phalanges and nails, left diaphragmatic hernia, hypoplastic optic nerves, severe pulmonary hypoplasia, and an accessory spleen, and describe the autopsy findings. The infant expired at 18 h of life. The features were most consistent with Fryns syndrome although other conditions were considered including Matthew Wood syndrome. Anophthalmia, to our knowledge, has not been reported previously in Fryns syndrome; however, eye findings are common, particularly microphthalmia and cloudy cornea.

Figure 1.

Frontal view of the patient at autopsy.

Figure 2.

The chest and abdominal cavities at autopsy showing the left pleural space occupied with abdominal contents, including stomach, spleen, left hepatic lobe, and intestines. The heart and thymus were deviated to the right.

Figure 3.

Microscopic sections of the globe revealed foci of calcification, fragments of muscle, peripheral nerve, and adipose tissue. There was no evidence of normal residual intrinsic tissue (hematoxylin-eosin original magnification ×100).

Figure 4.

Anatomic view of the hypoplastic optic nerve tract (arrows) bilaterally.