Studies of malformation syndromes in man XXXVI: the Pfeiffer syndrome, association with Kleeblattschädel and multiple visceral anomalies. Case report and review.
This paper reports sporadic occurrence of the Pfeiffer syndrome with Kleeblattschädel (KS) in a male infant who died at 6 months of pneumonia with signs of increased intracranial pressure and who was found to have hydrocephalus, polymicrogyria, cerebellar herniation, bicuspid aortic valve, a common mesentery, absence of lesser omentum, hypoplasia of gallbladder, a single umbilical artery, and multiple eye defects. This case is presumed to represent a new mutation: in other families the Pfeiffer syndrome has been dominantly inherited. The Pfeiffer syndrome is a form of acrocephalosyndactyly and impresses clinically as a mild form of the Apert syndrome. The Kleeblattschädel is an etiologically non-specific developmental field defect (DFC); about two fifths of 51 known cases have apparent thanatophoric dwarfism and about one fifth are probable or possible examples of the Pfeiffer syndrome. The KS-DFC has also been seen in the syndromes of Carpenter, Apert and Crouzon.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000168:Acrocephalosyndactylia / Q000175:diagnosis*; D001344:Autopsy; D001921:Brain / Q000473:pathology; D003394:Craniofacial Dysostosis / Q000150:complications; D004392:Dwarfism / Q000150:complications; D005094:Exophthalmos / Q000150:complications; D006801:Humans; D006849:Hydrocephalus / Q000150:complications; D007223:Infant; D008297:Male; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome