INTRODUCTION: Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits, is caused by mutations in interferon regulatory factor 6 gene. It is reported to be the most common syndromic cleft worldwide. This case series presents the phenotypic characteristics and treatment outcomes in a group of 9 patients diagnosed ... Read more

Background: We report the incidence of Chiari malformation I (CMI) in a cohort of 377 patients with isolated sagittal synostosis (ISS), which is to the best of our knowledge the largest such series reported to date. Methods: A retrospective review of patients seen at a single institution from 2007 to 2017 was completed. ISS, Chiari malformations (CMI and CMII) and ... Read more

RASopathy is caused by dysfunction in the _MAPK_ pathway, and include syndromes like Noonan syndrome (NS), NS with multiple lentigines (formerly known as Leopard syndrome), cardiofaciocutaneous (CFC), Legius syndrome, capillary malformation-arteriovenous malformation, neurofibromatosis type 1, and Costello syndrome. When counted together, RASopathies affect 1/1000 live births, and are characterized by cardiovascular manifestations, short stature, developmental delay, renal, urogenital, skin/skeletal abnormalities, ... Read more

This study aimed to detect the ability of pattern visual evoked potentials to detect visual pathway dysfunction in a cohort of patients with craniosynostosis who also had invasive intracranial pressure measurement. A retrospective review was conducted on craniosynostosis patients who had invasive intracranial pressure measurement and at least one pattern visual evoked potentials test. Reversal pattern visual evoked potentials were ... Read more

This study aimed to evaluate the eect of craniofacial surgical intervention on the visual pathway’s function by comparing pre- to post-operative patterned, visually-evoked potentials (pVEP). A retrospective review was conducted on craniosynostosis patients who had pre- and post-craniofacial surgery pVEP testing. The pVEP measured grade in terms of amplitude latency and morphology of the waveforms. The pre- and post-operative results ... Read more

Background: Reports of systemic associations in patients with Isolated Sagittal Synostosis (ISS) are sparse. Craniofacial surgeons, and other providers, should be aware that a significant proportion of patients with ISS may have syndromic or systemic involvement. This study investigates the incidence of systemic disease and syndromic diagnosis in a cohort of patients presenting with ISS (ie, patients with sagittal synostosis ... Read more

Purpose: 1- To evaluate accuracy of optic nerve sheath diameter (ONSD) measurements obtained by magnetic resonance imaging (MRI) in patients with craniosynostosis (CS) for detection of high intracranial pressure (ICP). 2- To correlate MRI derived ONSD measurements with those obtained by computed tomography (CT) scans in CS patients. Methods: A retrospective review was conducted on CS patients who had MRI ... Read more

The nose has a robust blood supply derived from both internal and external carotid arteries. The main blood supply of the nasal tip and skin is derived primarily from the lateral nasal arteries, with a variable contribution from the columellar arteries. We present a patient with cut nose resulting from a homicidal attack in which the lower two-thirds of the ... Read more

In the present study, we found that surgical excision of hemangiomas yielded acceptable outcomes in complicated lesions and lesions with functional or cosmetic concerns during both the proliferative and the involutional phases. With all treatment modalities for hemangiomas, surgery is still indicated for selected cases and more that it would be thought. Following the proper reconstructive options yield the best ... Read more

INTRODUCTION: Hemangioma is considered the most common tumor of infancy. Rapid growth of hemangioma during its proliferative phase can lead to disfigurement and is sometimes associated with complications. Propranolol has been used recently in the treatment for infantile hemangiomas and has shown promising results. We are reporting our initial experience with the use of propranolol in treatment of hemangiomas during ... Read more