Pfeiffer syndrome: a clinical review.
The combination of bicoronal craniosynostosis, broad thumbs and great toes, and partial variable soft tissue syndactyly of the hands and feet (i.e., Pfeiffer syndrome) classically followed a benign clinical course. A review of the clinical features of those Pfeiffer syndrome patients presenting to our unit confirm another subgroup in whom the craniofacial and associated manifestations are more extreme, with a significant risk of early demise. The early aggressive surgical management of craniostenosis, hydrocephalus, exorbitism, faciostenosis, and upper airway obstruction has provided the potential for prolonged useful survival in these cases.
Moore
M H
MH
Australian Craniofacial Unit, North Adelaide.
Cantrell
S B
SB
Trott
J A
JA
David
D J
DJ
D000168:Acrocephalosyndactylia / Q000145:classification / Q000473:pathology* / Q000601:surgery; D000328:Adult; D000402:Airway Obstruction / Q000473:pathology; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D002648:Child; D005124:Eye Abnormalities / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009915:Orbit / Q000002:abnormalities / Q000473:pathology; D012886:Skull / Q000002:abnormalities / Q000473:pathology; D016896:Treatment Outcome