Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings.

Background: Carpenter syndrome, or acrocephalopolysyndactyly type II, is a disorder associated with an autosomal recessive pattern of inheritance. Because of its rarity, limited insight into the anomalies associated with this syndrome exist and little long-term follow-up of affected patients is available.

Methods: This study is a retrospective review of the clinical history, medical imaging, and therapeutic interventions for three full siblings with Carpenter syndrome over an 18-year period. The medical records were abstracted for kindred analysis, gestational and delivery history, health issues related to Carpenter syndrome, and therapeutic interventions, including indications for, age at, and outcome of.

Results: All three children had craniosynostosis, acral deformities, and other associated anomalies. The pattern of craniosynostosis, at birth, varied among the three siblings: one had fusion of the metopic and sagittal sutures and the other two had bilateral coronal, metopic, and anterior sagittal synostoses. All three siblings demonstrated marked absence or underdevelopment of the anterior cranial fossa and bulging of the middle cranial fossa. There was no correlation between the degree of craniofacial dysmorphology and brain dysmorphology in any of the three individuals. Computed tomographic scan data of osseous and brain anatomy and clinical photographs of treatment outcomes are provided to demonstrate the long-term craniofacial development and growth in treated individuals with Carpenter syndrome.

Conclusions: The diverse anatomical variation seen in these three individuals supports the notion of marked phenotypic variability within this disorder. This spectrum of information should aid members of craniofacial teams in appreciating this variability and thereby facilitating the diagnosis and management of individuals with Carpenter syndrome.