Pelger-Huet anomaly in an infant with multiple congenital anomalies.
We report a new case of Pelger-Huet anomaly (PHA) evident from the first day of life in an infant with multiple congenital anomalies suggestive of Fryn syndrome. The infant's parents are not affected by PHA, raising the possibility that the PHA resulted from a spontaneous mutation.
Fishbein
J D
JD
Department of Pediatrics, Duke University Medical Center, Durham, NC 27710.
Falletta
J M
JM
D000015:Abnormalities, Multiple; D005145:Face / Q000002:abnormalities; D006548:Hernia, Diaphragmatic / Q000150:complications / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital; D008297:Male; D010381:Pelger-Huet Anomaly / Q000150:complications*