Your institution is subscribed to Read Institutional Edition. Log in or Sign Up to read full text articles.

JOURNAL ARTICLE

Apert syndrome: evaluation of a treatment algorithm

Jeffrey A Fearon, Cindy Podner
Plastic and Reconstructive Surgery 2013, 131 (1): 132-42
23271523

BACKGROUND: The authors catalogued phenotypic variability among children with Apert syndrome, reviewed surgical outcomes (particularly with respect to their treatment goals of avoiding preventable developmental delays and reducing operative interventions), and examined correlations that might stimulate improved treatment paradigms.

METHODS: A case series review of all Apert syndrome patients, treated by a single surgeon, including phenotypic variations, mutational analyses, developmental assessments, and surgical treatments, was performed.

RESULTS: Over a 20-year period, 135 Apert syndrome patients were treated (32 percent from birth). A fairly even distribution of mutations was noted (S252W, n = 20; P253R, n = 18). Of 268 hands, 60 percent were type I, 21 percent were type II, and 19 percent were type III. Fifty percent had palatal anomalies. Three separate skull configuration types were identified, and 29 percent had acquired Chiari malformations, 24 percent had anomalies of the septum pellucidum, and 12 percent had anomalies of the corpus callosum. Cranial and midfacial procedures were performed significantly earlier at outside centers (6.2 months versus 12.6 months, and 5.3 years versus 7.5 years). No significant correlations were noted between development and gene mutation, hand or skull phenotypes, intracranial anomalies, and timing of initial skull surgery. A significant correlation was noted between adverse development and ventriculoperitoneal shunts, tracheostomies, and more operative interventions. Higher development strongly correlated with treatment at our center from birth.

CONCLUSION: Treatment goals focused on the prevention of avoidable developmental delays (from raised intracranial pressure and sleep apnea) and reducing operative interventions may potentially improve developmental outcomes.

CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, III.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
23271523
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.