Newborn with anophthalmia and features of Fryns syndrome.
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.
Pierson
Diane M
DM
Department of Pathology, Truman Medical Center, Kansas City, MO, USA.
Subtil
Antonio
A
Taboada
Eugenio
E
Butler
Merlin G
MG
D000015:Abnormalities, Multiple; D000853:Anophthalmos / Q000150:complications* / Q000473:pathology; D019465:Craniofacial Abnormalities / Q000150:complications; D005123:Eye / Q000473:pathology; D005260:Female; D006548:Hernia, Diaphragmatic / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D009900:Optic Nerve / Q000002:abnormalities / Q000473:pathology; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome