Impact of Cranial Base Abnormalities on Cerebellar Volume and the Velopharynx in 22q11.2 Deletion Syndrome

Objective: The purpose of this study was to analyze the relationship between cranial base, cerebellar, craniofacial, and velopharyngeal (VP) variables in individuals with 22q11.2 deletion syndrome (22q11DS). Methods: Thirteen typically developing healthy children and 13 age- and sex-matched individuals with 22q11DS completed a magnetic resonance imaging scan, which was used to examine craniofacial and VP variables. Results: A statistically significant difference was noted in cerebellum volumes, F 1,24 = 7.947, P = .010, posterior nasal spine to posterior pharyngeal wall (PNS-PPW), F 1,24 = 4.878, P = .037, nasion-sella-basion (NSB) cranial base angles, F 1,24 = 7.253, P = .013, and sella-basion-opisthion (SBO) cranial base angles, F 1,24 = 9.134, P = .006, between children with 22q11DS and controls. The cerebellum volume was significantly reduced and cranial base angles were significantly more obtuse in individuals with 22q11DS. In the 22q11DS group, cerebellum volume was significantly correlated with sella-basion (SB) length, osseous pharyngeal depth, the PNS-PPW length, and velar length ( P < .05). The PNS-PPW length was correlated with SB length, basion-opisthion length, NSB angle, SBO angle, and the VP ratio ( P < .05). Conclusion: This study supports previous findings on anatomical differences among individuals with 22q11DS and has expanded our current understanding of the potential relationship between craniofacial and VP variables in at least a subset of children with 22q11DS. Results provide preliminary insights into the potential relationship between a decrease in cerebellar volume, obtuse cranial base angles, and unfavorable VP dimensions.

Correction of Coronal Suture Synostosis Using Suture and Dura Mater Allografts in Rabbits with Familial Craniosynostosis

Objective: Resynostosis following surgical correction of craniosynostosis is a common clinical correlate. Recent studies suggest that the dura mater is necessary to maintain suture patency. It has also been hypothesized that dura mater from synostotic individuals may provide aberrant biochemical signals to the osteogenic fronts of the calvaria, which result in premature suture fusion and subsequent resynostosis following surgery. This study was designed to test this hypothesis by surgically manipulating the coronal suture and dura mater in rabbits with familial craniosynostosis to prevent postsurgical resynostosis. Design: Craniofacial growth and histomorphometric data were collected from 129 rabbits: 72 normal controls and 57 rabbits with bilateral coronal suture synostosis (15 unoperated on controls; 13 surgical controls; 9 dura mater transplant only; 10 suture transplant only; and 10 suture and dura mater transplant). At 10 days of age, all rabbits had radiopaque amalgam markers placed on either side of the coronal, frontonasal, and anterior lambdoidal sutures. At 25 days of age, 42 synostosed rabbits had a 3 to 5-mm wide coronal suturectomy. Coronal sutures and/or underlying dura mater allografts were harvested from same-aged, wild-type, isohistogenic control rabbits and transplanted onto the dura mater of synostosed host rabbits. Serial radiographs were taken at 10, 25, 42, and 84 days of age, and the suturectomy sites were harvested at 84 days of age in 44 rabbits and serially sectioned for histomorphometric examination. Results: Results revealed that cranial vault growth was significantly (p < .05) improved following surgical release of the fused coronal suture compared with synostosed rabbits who were not operated on but was still significantly different (p < .05) from that of normal control rabbits. By 84 days of age, significant (p < .05) differences were noted in calvarial suture marker separation, cranial vault shape indices, and cranial base angles between rabbits with and without dura mater allografts, probably as a result of resynostosis of the suturectomy site or suture-only allografts. Qualitative histological examination revealed that at 84 days of age rabbits with suture and dura allografts had patent coronal sutures, suture-only allografts had fused coronal sutures with extensive endosteal hyperostosis, dura mater–only allografts had some new bone in the suturectomy site that resembled rudimentary osteogenic fronts, and suturectomy controls had extensive endosteal bone formation and resynostosis of the suturectomy site. Significantly (p < .05) more bone was found in the suturectomy sites of rabbits without dura mater allografts compared with rabbits with dura mater allografts. Conclusions: Results support the initial hypothesis that normal dura mater allografts will maintain suture or suturectomy site patency and allow unrestricted craniofacial growth. However, it is still unclear whether the dura mater from normal rabbits was providing biochemical signals to the transplanted sutures or suturectomy sites or simply acting as a barrier to prevent abnormal biochemical signals from the dura mater of synostosed rabbits from reaching the calvaria. The clinical and therapeutic implications of these procedures are discussed.

Congenital Bilateral Coronal Suture Synostosis in a Rabbit and Craniofacial Growth Comparisons with Experimental Models

Experimental rabbit models of postnatal coronal suture (CS) synostosis have helped make significant contributions towards the understanding and surgical management of human congenital craniosynostosis. The present study compares craniofacial growth patterns in animals with experimental CS immobilization and in a rabbit born in our laboratory with congenital CS synostosis. The study sample consisted of 10 sham controls, 14 experimental animals with bilateral CS immobilization, and one animal with congenital, bilateral CS synostosis. At 1.5 weeks of age, all animals had amalgam markers placed on either side of the frontonasal, coronal, and anterior lambdoid sutures. At this time, the experimental animals had bilateral CS immobilization using methyl-methacrylate. Serial lateral head x-rays were taken at 1.5, 6, 12, and 18 weeks of age. Results revealed that by 1.5 weeks of age the congenital animal already exhibited changes in the cranial vault, cranial base, midface, and orthocephalic cranial base angles compared to controls. By 6 weeks of age, animals with experimental immobilization showed compensatory growth patterns similar to the congenital animal, particularly at the calvarial sutures and upper midface. This pattern continued through 18 weeks. Results showed that experimental, postnatal CS immobilization produced similar craniofacial growth patterns to those observed for our single congenital animal, but to a lesser degree, and therefore validates, in part, findings from experimental rabbit models of synostosis.

Craniofacial Development in Myotonic Dystrophy

Anthropometric, cephalometric, and dental data from 23 subjects (12 males and 11 females) afflicted with myotonic dystrophy were compared to similar data from normal subjects who participated in the Iowa Facial Growth Study. A two by two analysis of variance showed that myotonic subjects differed from normal subjects in headlength, head breadth, cephalic index, bizygomatic face width, nosebreadth, maxillary arch widths, palatal depth, anterior and posterior face heights, cranial base lengths, cranial base angles, and other cephalometric measures. Sex differences were observed for many of the variables. It is hoped that these findings will assist clinicians who treat patients having this disorder.