Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement.

BACKGROUND: Twins with Pfeiffer syndrome (or acrocephalosyndactyly) had a similar phenotypic appearance with findings of classic or type 1 Pfeiffer syndrome, including bicoronal and sagittal craniosynostoses, midface hypoplasia, and broad thumbs/toes. We document their treatment with 2 monobloc advancements and discuss growth disturbances in craniofacial dysostosis. METHODS: At 6 months, both twins underwent release of multisuture (bilateral coronal and sagittal) fusions for improvement of scaphocephalic shape and multisuture release; however, one twin had a more aggressive procedure with advancement of the frontal-orbital region. Despite improved initial correction by one twin, at 5 years of age, both twins presented with midface hypoplasia and exorbitism and underwent a monobloc distraction procedure with similar 20-mm advancements. Comparative analysis by our craniofacial multidisciplinary team included perioperative reports, computed tomographic scans, cephalograms, parent questionnaires, and physician surveys. RESULTS: Both twins had an improved confidence interval scores from 84 to 68 and 82 to 69 postoperatively. In 6-month follow-up, the Whitaker score of the first twin was 2.8, whereas that for the second twin with the frontal-orbital advancement was 1.2. Preschool expressive and receptive tests yielded 97 and 95, and 97 and 98, and developmental testing was similar between the twins. Global evaluations were equivalent to age-matched controls, and memory and attention skills were within normal limits. Parental surveys showed a high level of satisfaction after all procedures in both twins. CONCLUSIONS: Our study demonstrates that the phenotypic outcome for both twins remained unchanged when comparing a more aggressive surgery to less aggressive surgery as an infant. The genetic mutation may have overridden the different surgical interventions. Both twins ultimately required 2 subsequent monobloc corrections.

Sagittal synostotic twins: reverse pi procedure for scaphocephaly correction gives superior result compared to endoscopic repair followed by helmet therapy.

A unique situation of twins with similar sagittal synostosis pathology who underwent different surgical corrective procedures allowed us an opportunity to compare an endoscopic technique to the more traditional technique of a modified cranial vault remodeling (CVR). At 4 months of age, 1 twin underwent an endoscopic-assisted extended strip craniectomy with postoperative helmet therapy for 12 months, and the other underwent a reverse pi CVR procedure. Cephalic index, the Whitaker Aesthetic score, and developmental tests were used for comparison during a 6-year follow-up. The modified CVR had a superior outcome compared to the endoscopic procedure with regard to cephalic index measurements (CVR = 77; endoscopic = 63; P < 0.05) and the Whitaker score (CVR = 1 or no revisions necessary; endoscopic = 2.3 or minor to major bony work required for correction). Patients had similar intelligence quotient test scores; however, the endoscopic patient had lower scores in both preschool tests and global evaluations compared with the normal scores of the CVR patient. The modified CVR procedure was superior to the endoscopic procedure, at least in these twins with sagittal synostosis.

Unilateral vision impairment from a carotid-cavernous fistula after a monobloc osteotomy in a patient with Apert syndrome.

A patient with Apert syndrome who underwent a monobloc osteotomy with distraction advancement sustained partial unilateral vision loss as a complication from a direct carotid-cavernous fistula. Successful embolization was used to treat the fistula. Precaution should be taken by craniofacial surgeons in performing similar procedures in patients with Apert syndrome because of their unique skull abnormalities.