Introduction Bony variations related to failure of segmentation of most caudal of the occipital sclerotomes, the pro-atlas, are rare, but have been documented [1]. The developmental failures lead to unusual bone formation at the anterior rim of foramen magnum, either in midline or laterally. Developmental osseous anomalies of the cranio-vertebral complex can result in neural compression, vascul...

Goldenhar syndrome is a well-known condition featuring the following triad of anomalies: ocular abnormalities, microtia and vertebral anomalies. This syndrome involves structures arising from the first and second branchial arches. Craniofacial anomalies, including mandibular, zygomatic and/or maxillary hypoplasias are found in 50% of patients with Goldenhar syndrome. Patients with this syndrome...

We would like to present a rare case of alobar holoprosencephaly (HPE) in a fetus diagnosed by routine sonography in the second trimester. Structural sonography demonstrated multiple facial anomalies including absent nasal bone, flat facial profile, hypotelorism, fusion of the orbits and proboscis. After counseling, termination of pregnancy was performed by vaginally administered misoprostol. K...

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.

This study, reporting the results of a 2012 Master’s dissertation, of 131 skulls from 6 Classical to Medieval populations in Macedonia and England examined the relationship between craniometric variables and dental anomalies of shape, number, and position. Standard craniometric landmarks were measured and dental anomalies of shape, number, and position were recorded and tested for associations ...

Binder’s syndrome or maxillonasal dysplasia is a rare clinical entity characterized by abnormal development (dysplasia) of nasomaxillary region. Management of the syndrome varies with the severity of facial anomalies present and association with other anomalies. Interdisciplinary team management of this malformation is essential. This case report describes a patient with Binder’s syndrome and t...

Background The Kabuki syndrome (KS) is a rare genetic, hereditary, autosomic dominant, multiple anomaly syndrome, with an estimated incidence around 1-2/ 100 000 worldwide. Not all of the affected individuals have the same malformations. Five major criteria delineate KS: postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, characteristic facial dys...

Kabuki syndrome is a rare condition characterized by multiple congenital anomalies and intellectual disabilities [1]. The etiology of Kabuki syndrome is unclear, but the syndrome is known to have an autosomal dominant mode of inheritance. Furthermore, mutations in the MLL2 and KDM6A genes have recently been suggested as causes of this syndrome [2]. The five major clinical manifestations of this...

Anomalies of the course of the facial nerve have been reported in association with middle and inner ear malformations. Bifurcation of its intratemporal portion is a rare malformation in which focal splitting of one or more facial nerve segments occurs. We describe the CT appearance of this anomaly and discuss its possible embryology. Facial nerve bifurcation is important to recognize in patient...

There are various causes of facial canal enlargement. From congenital anomalies to neoplasms, many pathologic conditions should be considered. However, normal variants of vascular anatomy can also result in facial canal enlargement on temporal bone imaging. In order to avoid unnecessary procedures and complications, such as bleeding and facial nerve injury, this possibility should also be taken...