CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It is associated with a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. In DiGeorge’s original report, he focused on thymic hypoplasia and hypo...

The relations between angiographic manifestations and operative findings of hemifacial spasm were studied in 70 cases between 1988 and 2001. Vertebral angiography was performed, and Towne, straight AP, and lateral projections were routinely examined. The dominant anterior inferior cerebellar artery (AICA) directly compressed the facial nerve root exit zone in 26 cases, the dominant posterior in...

Joubert syndrome is a rare disease characterised by clinical and radiological findings. Among the classic clinical findings of JS are hypotonia, ataxia, mental-motor retardation, respiratory and opthalmological findings. The paediatric cases included in the study comprised nine patients. There was familial consanguinty in seven cases. Clinically, all cases had mental-motor retardation and hypot...

Introduction: Abnormal separation of CN7 much earlier in embryogenesis may be necessary for a bifurcation or trifurcation anomaly to result. Early division of the nerve at around 4-6 weeks may allow the displacement of one segment by the developing temporal bone structures.By the 8 th week, the orientation of CN7 within the temporal bone has been established, with nerve’s ultimate position and ...

Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is a rare congenital condition characterized by facial, cranial, vertebral, ocular, auricular and cardiac abnormalities. This syndrome is associated with hemifacial microsomia due to inadequate growth of the mandible and vertebral anomaly of the cervical part of the spine. For anesthesiologists, airway management is of great in...

irst branchial cleft anomalies account for 8--10%1,2 of all ranchial cleft defects, representing approximately 17% of ll pediatric cervical masses. The low incidence and the arious clinical presentations of these congenital malformaions of the branchial apparatus make the diagnosis difficult ven for the experimented otolaryngologist. Depending on he type of the anomaly (fistula, sinus or cyst),...

Talon cusp (TC) is a relatively uncommon developmental anomaly characterized by cusp-like projections from the cemento-enamel junction to a variable distance toward the incisal edge of an anterior tooth. It usually presents on palatal/lingual surface of the anterior teeth. Studies have revealed that it consists of enamel, dentine and a variable amount of pulp tissue. Presence of this cusp on th...

PURPOSE Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cut...

A talon cusp is a rare form of developmental anomaly characterized by a well-delineated additional cusp like projection located on the surface of an anterior tooth and extends at least half the distance from the cementoenamel junction to the incisal edge. It usually occurs on palatal and lingual surface of the anterior teeth. On rare occasions the cusp may project from the facial surface or fro...

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 ...