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Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement.
J Craniofac Surg. 2009 May; 20(3):811-5.JC

Abstract

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.

Authors+Show Affiliations

Division of Plastic and Reconstructive Surgery, School of Medicine, University of California, Los Angeles, Los Angeles, California 90095-6960, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Comparative Study
Journal Article

Language

eng

PubMed ID

19390453

Citation

Kohan, Emil, et al. "Pfeiffer Syndrome Twins: Despite Improved Correction in One Twin, Growth Disturbance Results in Similar Need for Subsequent Monobloc Advancement." The Journal of Craniofacial Surgery, vol. 20, no. 3, 2009, pp. 811-5.
Kohan E, Longaker MT, Nguyen J, et al. Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. J Craniofac Surg. 2009;20(3):811-5.
Kohan, E., Longaker, M. T., Nguyen, J., Kawamoto, H., Wexler, A., Cahan, L., Katchikian, H. V., & Bradley, J. P. (2009). Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. The Journal of Craniofacial Surgery, 20(3), 811-5. https://doi.org/10.1097/SCS.0b013e3181a2e545
Kohan E, et al. Pfeiffer Syndrome Twins: Despite Improved Correction in One Twin, Growth Disturbance Results in Similar Need for Subsequent Monobloc Advancement. J Craniofac Surg. 2009;20(3):811-5. PubMed PMID: 19390453.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pfeiffer syndrome twins: despite improved correction in one twin, growth disturbance results in similar need for subsequent monobloc advancement. AU - Kohan,Emil, AU - Longaker,Michael T, AU - Nguyen,JoAnna, AU - Kawamoto,Henry, AU - Wexler,Andrew, AU - Cahan,Les, AU - Katchikian,Hurig V, AU - Bradley,James P, PY - 2009/4/25/entrez PY - 2009/4/25/pubmed PY - 2009/8/21/medline SP - 811 EP - 5 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 20 IS - 3 N2 - 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. SN - 1536-3732 UR - https://www.unboundmedicine.com/medline/citation/19390453/Pfeiffer_syndrome_twins:_despite_improved_correction_in_one_twin_growth_disturbance_results_in_similar_need_for_subsequent_monobloc_advancement_ L2 - https://doi.org/10.1097/SCS.0b013e3181a2e545 DB - PRIME DP - Unbound Medicine ER -