ABSTRACT
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.
Subject(s)
Acrocephalosyndactylia/pathology , Acrocephalosyndactylia/classification , Acrocephalosyndactylia/surgery , Adult , Airway Obstruction/pathology , Cerebral Ventricles/abnormalities , Cerebral Ventricles/pathology , Child , Eye Abnormalities/pathology , Facial Bones/abnormalities , Facial Bones/pathology , Female , Follow-Up Studies , Humans , Infant , Infant, Newborn , Male , Orbit/abnormalities , Orbit/pathology , Skull/abnormalities , Skull/pathology , Treatment OutcomeABSTRACT
The acrocephalosyndactyly syndromes have presented diagnostic challenges because of overlap in their clinical manifestations. We present a patient with features most suggestive of Apert syndrome, but with a pattern of syndactyly not previously described. In contrast to the complex syndactyly reported as a universal feature of this syndrome, this patient shows close to total simple syndactyly of the index through ring fingers of each hand. Differential diagnoses are discussed. Because the features are reminiscent of Apert syndrome, we suggest that a new classification of hand morphology should be added to include the pattern described here.
