Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy.

BACKGROUND Developmental delay has been reported to occur with optic nerve hypoplasia, a leading cause of pediatric blindness, but has not been systematically examined for its prevalence and correlation with associated pathologies of optic nerve hypoplasia. OBJECTIVE The purpose of this study was to determine the developmental outcomes of children with optic nerve hypoplasia and the correlati...

Accurate diagnosis of subtypes of transverse sinus (TS) hypoplasia requires more expensive methods like magnetic resonance (MR) imaging. We hypothesized ultrasound findings of the internal jugular vein (IJV) can be surrogate indicators for diagnosis of TS hypoplasia. MR images were reviewed in 131 subjects to evaluate TS diameter and the location and degree of venous flow stenosis and obstructi...

Bilateral renal agenesis/hypoplasia/dysplasia is a lethal malformation in humans with an incidence of 1.3 per 10,000 live births. In the etiology bilateral agenesis/hypoplasia/dysplasia, genetic factor plays important role. addition to factors, also involves teratogenic effect hyperglycemia on embryo mothers insulin-dependent maternal diabetes. The purpose this paper present special case which ...

We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. A 43-year-old female patient affected by IVB Morquio syndrome underwent instrumental investigation. Conventional plain films of the entire spine, pelvis, chest and knees together with magneti...

This study investigated the prevalence of enamel hypoplasia and dental caries and the relationship between the two diseases in all 4- to 6-year-old Australian Aboriginal children of the Tiwi tribe on Bathurst Island. Seventy-nine of 80 children (99%) had enamel hypoplasia, with a mean of 12.0 +/- 4.1 hypoplastic teeth per child. Dental caries was noted in 66 (83%) of children and the mean numbe...

Introduction Hypoplasia is defined as a quantitative defect of enamel visually and is histomorphologically identified as an external defect involving the surface of the enamel and associated with reduced thickness of enamel (Ozturk et al, 2004).Turner's hypoplasia usually manifests as a portion of missing or diminished enamel, generally affecting one or more permanent teeth in the oral cavity. ...