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

Full 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.

Author information

Author/s: Kohan, Emil (E); Longaker, Michael T (MT); Nguyen, JoAnna (J); Kawamoto, Henry (H); Wexler, Andrew (A); Cahan, Les (L); Katchikian, Hurig V (HV); Bradley, James P (JP);

Affiliation: Division of Plastic and Reconstructive Surgery, School of Medicine, University of California, Los Angeles, Los Angeles, California 90095-6960, USA.

Journal and publication information

Publication Type: Case Reports; Comparative Study; Journal Article

Journal: The Journal of craniofacial surgery (J Craniofac Surg), published in United States. (Language: eng)

Reference: 2009-May; vol 20 (issue 3) : pp 811-5

Dates: Created 2009/05/22; Completed 2009/08/20;

PMID: 19390453, status: MEDLINE (last retrieval date: 8/21/2009, IMS Date: )

Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.

External Links for this article
(including full text providers, if available):

Click Electronic Full-text Provider Links to see options for finding the electronic full text links to this article. Note there may be a subscription or fee required for access to the full text. See our FAQ for information on finding FREE full text articles.

This article may also be located in paper journal collections available in many libraries. Use the Journal and Publication Information above to find the full article.