BACKGROUND Position of the facial foramina is important for regional block and for various maxillofacial surgical procedures. In this study, we report on anthropometry and morphology of these foramina using three-dimensional computed tomography (3D-CT) data. METHODS A retrospective review was performed for all patients who have undergone 3D-CT scan of the facial skeleton for reasons other tha...

Inner ear anomalies are a rare but important cause of sensorineural hearing loss. Combined external and middle ear anomalies are more common, causing conductive hearing loss and cosmetic deformity. The course of the facial nerve canal is altered in many temporal bone anomalies. Its location is of great importance when surgical therapy is anticipated. Vascular anomalies and bone dysplasias occas...

We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor ...

A developmentally delayed 28-month-old male toddler was referred to us for brain MRI. Imaging revealed corpus callosum dysgenesis, forniceal hypoplasia, vermian hypoplasia, and hypothalamic dysmorphism characterized by tuber cinereum diverticula. Subsequent chromosomal microarray showed an Xq21 deletion. We present a case of Xq21 deletion syndrome with midline brain anomalies and a novel hypoth...

PURPOSE Kabuki syndrome is a multiple congenital malformation syndrome, with characteristic facial features, mental retardation, and skeletal and congenital heart anomalies. However, the cardiac anomalies are not well described in the Korean population. We analyzed the cardiac anomalies and clinical features of Kabuki syndrome in a single tertiary center. METHODS A retrospective analysis was ...

The wide spectrum of craniofacial malformations makes classification difficult. A simple classification system allows an overview of the current understanding of the etiology, assessment, and treatment of the most frequently encountered craniofacial anomalies. Facial dysostoses are reviewed on the basis of their diverse etiology, pathogenesis, anatomy, and treatment. Conditions discussed includ...

Urethral duplication is a very rare congenital anomaly. Urethral duplication is seen most commonly in the sagittal plane. We report a rare case of complete urethral duplication in the coronal plane with no other associated anomalies. Surgical correction of this coronal urethral duplication resulted in a normal-appearing penis and good functional outcome with a single midline urethral meatus and...

BACKGROUND Patients with craniofacial anomalies often have appearance concerns and related social anxiety which can affect their quality of life. This study assessed the psychological impact of facial and dental appearance in patients with craniofacial anomalies in comparison to a general population control group. METHODS The study involved 102 adult patients (51% male) with congenital cranio...

We report a case of common bile duct (CBD) cancer, successfully managed with pancreaticoduodenectomy, in a patient with isolated levocardia, malrotation, and situs ambiguous (without splenic anomalies). A 59-year-old male patient was referred to Chung-Ang University Hospital with epigastric pain and jaundice. CT and MRI revealed distal CBD cancer without significant lymphadenopathy. Multiple ab...

UNLABELLED Holoprosencephaly (HPE) is a congenital central nervous system malformation estimated to occur in 1/250 conceptuses and 1/10,000 live births. While the severe forms, which are incompatible with life, are easier to detect in the prenatal period, the milder forms can remain unrecognised. As this can have serious consequences for the pregnancy and malformation carriers it is of crucial ...