The Whitaker Classification of Craniosynostosis Outcomes: An Assessment of Interrater Reliability.

Background: The Whitaker classification is a simple and widely used system for describing aesthetic outcomes after craniosynostosis surgery. The purpose of this study is to evaluate its interrater reliability for patients who have undergone fronto-orbital surgery.

Methods: A retrospective review of patients with craniosynostosis who underwent surgical intervention at a tertiary referral center was conducted.

Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature.

Background: Max Muenke included midface hypoplasia as part of the clinical syndrome caused by the Pro250Arg FGFR3 mutation that now bears his name. Murine models have demonstrated midface hypoplasia in homozygous recessive mice only, with heterozygotes having normal midfaces; as the majority of humans with the syndrome are heterozygotes, we investigated the incidence of midface hypoplasia in our institution's clinical cohort.

Methods: We retrospectively reviewed all patients with a genetic and clinical diagnosis of Muenke syndrome from 1990 to 2014.

A critical evaluation of long-term aesthetic outcomes of fronto-orbital advancement and cranial vault remodeling in nonsyndromic unicoronal craniosynostosis.

Background: This study reports long-term aesthetic outcomes with fronto-orbital advancement and cranial vault remodeling in treating unicoronal synostosis over a 35-year period.

Methods: Retrospective review was performed on patients with isolated unicoronal synostosis from 1977 to 2012. Demographic, preoperative phenotypic, and long-term aesthetic outcomes data were analyzed with chi-squared and Fisher's exact test for categorical data and Wilcoxon rank-sum and Kruskal-Wallis rank for continuous data.

Perioperative complications associated with intracranial procedures in patients with nonsyndromic single-suture craniosynostosis.

Within the diagnosis "craniosynostosis," there is a subset of patients who present with isolated, nonsyndromic, single-suture involvement. This study evaluates perioperative complications in this specific subset of patients over 4 decades at a single institution. To do so, we performed a retrospective review on consecutive patients undergoing correction of single-suture synostosis from May 1977 to January 2013 at a tertiary pediatric craniofacial center.

The prevalence of strabismus in unilateral coronal synostosis.

Background: While there is a clear correlation between unilateral coronal synostosis (UCS) and ocular motility abnormalities, the literature provides little information as to the true epidemiology of strabismus, or the underlying etiology of these paralleled pathologies. The purpose of this study is to investigate the rate of oculomotor abnormalities associated with UCS and its management.

Methods: A retrospective review of all patients identified to have single-suture, nonsyndromic UCS treated by fronto-orbital advancement at a tertiary craniofacial referral center from 1977 to 2013 was performed.

An evaluation of complications, revisions, and long-term aesthetic outcomes in nonsyndromic metopic craniosynostosis.

Background: The authors evaluated the complications, revisions, and long-term aesthetic outcomes of patients with isolated metopic synostosis.

Methods: A retrospective chart review was performed on consecutive metopic craniosynostosis patients treated from June of 1987 to June of 2012 at The Children's Hospital of Philadelphia. Patient demographics, operative details, and postoperative data were collected.

The impact of a parent liaison at a major craniofacial center.

The psychosocial impact of craniofacial disfigurement affects both the developing child and his/her family. The Facial Reconstruction Center at the Children's Hospital of Philadelphia has employed a Parent Liaison (PL) to provide psychosocial support to families and has been an invaluable resource in this regard. We hypothesize that a PL impacts the overall outcome of the surgery by building trust between the parents and medical institution, and increasing satisfaction.

Soft-tissue refinements in the treatment of unicoronal craniosynostosis: the rotational forehead flap.

Unicoronal craniosynostosis is characterized by ipsilateral superior and posterior displacement of the supraorbital rim and frontal bone, ipsilateral widening of the palpebral fissure, ipsilateral superior displacement of the brow, and contralateral brow depression. In the literature, surgical treatment has focused on bony anatomy, with little written about soft-tissue correction. Over the last 25 years, the senior author (L.

Does the incidence of traumatic brain injury in children increase after craniofrontal surgery?

Background: Craniofrontal reshaping (CR) for the treatment of craniosynostosis results in a temporary cranial defect due to the advancement and/or expansion of the supraorbital and frontal bones. The goal of the present study was to determine whether the incidence traumatic brain injury (TBI) was increased in patients after CR as a result of this breach in skull integrity.

Methods: We performed a retrospective chart review of all patients with a diagnosis of craniosynostosis who underwent CR between 1997 and 2007 at our institution.

Metopic craniosynostosis due to mutations in GLI3: A novel association.

We report on the novel association of trigonocephaly and polysyndactyly in two unrelated patients due to mutations within the last third (exon 14) and first third (exon 6) of the GLI3 gene, respectively. GLI3 acts as a downstream mediator of the Sonic hedgehog signal-transduction pathway which is essential for early development; and plays a role in cell growth, specialization, and patterning of structures such as the brain and limbs. GLI3 mutations have been identified in patients with Pallister-Hall, Grieg cephalopolysyndactyly syndrome (GCPS), postaxial polydactyly type A1, preaxial polydactyly type IV, and in one patient with acrocallosal syndrome (ACLS).

Normocephalic pancraniosynostosis resulting in late presentation of elevated intracranial pressures.

Background: Pancraniosynostosis presents with premature fusion of three or more major cranial sutures. The four presentations of primary pancraniosynostosis are kleeblattschädel, complex, progressive, and normocephalic. This study compares the clinical presentation and treatment course of patients with normocephalic presentation against the other pancraniosynostosis groups.

The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.

Background: Patients with Saethre-Chotzen syndrome have a heterogeneous phenotype. The purpose of this study was to use the genotypic diagnosis of the authors' series of patients with TWIST1-confirmed Saethre-Chotzen syndrome to describe their natural history and long-term surgical outcomes.

Methods: A retrospective chart review was performed on patients treated at The Children's Hospital of Philadelphia with TWIST1-confirmed Saethre-Chotzen syndrome (n = 22) over 23 years (1985 to 2008).

Tongue dysmorphology in craniofacial microsomia.

Background: Craniofacial microsomia is one of the most common and well-characterized craniofacial anomalies. Tongue dysmorphism, however, has been neither thoroughly investigated nor reported in the context of this disease. This review focuses on the true prevalence of tongue dysmorphology in craniofacial microsomia and its relation to the deformities seen in this condition.

Evaluation of the safety of posterior cranial vault reconstruction.

Background: Posterior vault reconstruction involves exposure, craniotomy, and reconstruction of the occipital cranium. Although it is commonly performed, the safety and complications associated with posterior vault reconstruction have not been specifically or thoroughly examined.

Methods: A retrospective chart review was performed for all patients undergoing posterior vault reconstruction at the Children's Hospital of Philadelphia between 1996 and 2006.

Cranial vault expansion in the management of postshunt craniosynostosis and slit ventricle syndrome.

Background: Slit ventricle syndrome and postshunt craniosynostosis are uncommon complications after shunting procedures for congenital hydrocephalus. Slit ventricle syndrome occurs as a complication in 1 to 5 percent of patients after shunting procedures for hydrocephalus during infancy. These patients usually have had a shunt in place for years, with overdrainage of cerebrospinal fluid resulting in very small ventricles.

The changing epidemiologic spectrum of single-suture synostoses.

Purpose: Classic literature indicates an infrequency of metopic craniosynostosis (3 to 10 percent) compared to other single-suture craniosynostosis. Recent observation challenges these conceptions, warranting long-term demographic analysis.

Methods: Syndromic craniofacial dysostoses and multiple suture involvement were exclusion criteria, leaving only single suture synostoses treated between 1975 and 2004.

Long-term results following fronto-orbital reconstruction in nonsyndromic unicoronal synostosis.

Background: Fronto-orbital reconstruction is the standard of care for repair of unilateral coronal synostosis. This study examined the relationship between age at initial surgery and need for secondary surgery, to determine the optimal age for reconstruction.

Methods: The series comprised 81 patients with unicoronal synostosis who underwent reconstruction over a 30-year period by a single surgeon.

Evolution of operative techniques for the treatment of single-suture metopic synostosis.

Purpose: Primary orbitocranioplasty for metopic craniosynostosis encompasses a variety of techniques, with variable long-term success. The authors present a series illustrating the evolution of surgical techniques and its impact on surgical outcomes.

Methods: All patients with single-suture metopic synostosis treated at the Children's Hospital of Philadelphia from 1975-2004 were included.

Age-dependent closure of bony defects after frontal orbital advancement.

Background: The ability of the immature skull to spontaneously heal large bony defects created after craniofacial procedures was examined over a 25-year period of craniofacial surgery at the Children's Hospital of Philadelphia.

Methods: Only patients who underwent frontal orbital advancement and reconstruction, had at least 1 year of documented follow-up, and had the presence or absence of a bony defect documented on clinical examination were included. The sex, age at operation, diagnosis, history of a prior craniectomy, and presence or absence of a postoperative infection were determined for each patient.

Craniosynostosis: another feature of the 22q11.2 deletion syndrome.

We report on the presence of craniosynostosis in four patients with the 22q11.2 deletion. In light of previous reports of the association, we propose that the occurrence is higher than the general population incidence.

The art and science of anti-aging therapies.

A meeting entitled "The Art and Science of Anti-Aging Therapies: Convergence of Theory and Practice" took place on 18 and 19 March 2005 at the University of Pennsylvania School of Medicine. The symposium was held for health care professionals, researchers, and consumers to provide them with information about current trends in anti-aging therapies. The program, which combined medical, surgical, and nonpharmacological approaches to healthy successful aging, gave attendees the opportunity to make sense of the issues at hand and to sort out safe treatments from perilous quick fixes.

Mental health histories and psychiatric medication usage among persons who sought cosmetic Surgery.

This retrospective chart review study examined the mental health histories and psychiatric medication usage of persons who sought cosmetic surgery. The medical records of 232 patients who had undergone a consultation for a cosmetic procedure were reviewed. The rates of self-reported psychiatric disorders and of psychiatric medication usage of these patients were compared with those of 200 patients who underwent noncosmetic procedures.