Polycystin 2 (Pkd2), which belongs to the transient receptor potential family, plays a critical role in development. Pkd2 is mainly localized in the primary cilia, which also function as mechanoreceptors in many cells that influence multiple biological processes including Ca(2+) influx, chemical activity and signalling pathways. Mutations in many cilia proteins result in craniofacial abnormalit...

Epidermal Nevus Associated with Cerebral and Ocular MR Imaging Abnormalities This letter focuses on Schimmelpenning syndrome (SS), a neurocutaneous disorder related to epidermal nevus syndromes and characterized by craniofacial nevus, neurologic anomalies, and ocular pathology. We discuss clinical and MR imaging features of a 10-year-old boy, pointing out the etiopathologic substratum of this c...

Terms such as oculoauriculovertebral dysplasia, Goldenhar syndrome, and hemifacial microsomia have been used to describe microtia with specific combinations of other craniofacial anomalies. Microtia is also observed with anomalies of postcranial structures. Statistical studies were performed on 297 patients with microtia and other anomalies to identify subgroups of patients representing previou...

OBJECTIVES Delineation of clinical characteristics affecting the airway in a cohort of craniofacially deformed children. What factors differ between patients requiring and those not requiring surgical airway intervention? What factors predispose to the need for tracheotomy? When can decannulation be expected if tracheotomy is required? What interventions aid decannulation? STUDY DESIGN Five-y...

The term "craniofacial anomalies" (CFAs) refers to a diverse group of congenital disorders including complex syndromes marked by multiple sutural fusions (e.g., Crouzan's, Treacher Collins, and Aperts syndromes), simple craniosynostoses involving single fusions (e.g., sagittal synostosis), hemifacial microsomia, clefts of the lip and/or palate, and isolated "birth marks" on the face and neck, s...

OBJECTIVES - To understand how surgical interventions impact the organization and internal integration of the major components of the skull, we address the functional and developmental relationships during perinatal development. METHODS - A number of methods for quantifying modularity and integration of morphological data are available. Here, measures derived from three-dimensional computed tom...

Holoprosencephaly (HPE) is a rare anomaly of the brain consisting of an absent or incomplete separation of the forebrain in early gestation. We present 2 variants of HPE, diagnosed by ultrasound, which combined with the clinical features led to HPE subtypes differentiation.

The Baller-Gerold syndrome is a rare syndrome with very few cases published in literature. Craniosynostosis and radial aplasia are striking features, easy to diagnose. However, there are many differential diagnoses. Often, the question raised is whether the Baller-Gerald syndrome is a distinct entity. We report a patient with findings of craniosynostosis and radial aplasia consistent with the d...

SUMMARY HPE is a congenital brain malformation characterized by failure of the prosencephalon to divide into 2 hemispheres. We have identified 7 patients who have a mild subtype of HPE in which the midline fusion was restricted to the septal region or preoptic region of the telencephalon. This subtype, which we call septopreoptic HPE, falls in the spectrum of lobar HPE, but lacks significant fr...