http://www.researchonline.mq.edu.au/vital/access/services/Feed ${session.getAttribute("locale")} 5 http://www.researchonline.mq.edu.au/vital/access/manager/Repository/mq:21612 Osteodysplastic primordial dwarfism, type II manifests typical skeletal features which have not previously been described in the radiographic literature. We present an infant with characteristic findings and discuss related conditions, especially the Seckel syndrome. 2012-09-26T12:54:26.418Z ]]> http://www.researchonline.mq.edu.au/vital/access/manager/Repository/mq:21614 The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facies, skeletal manifestations and congenital hydronephrosis. We report an infant with characteristic findings who had bilateral congenital megacalyces. Congenital megacalyces is believed to be a developmental abnormality, occurs in other malformation syndromes and has not previously been described in the Schinzel-Giedion syndrome. 2012-09-26T12:54:24.769Z ]]> http://www.researchonline.mq.edu.au/vital/access/manager/Repository/mq:21613 The Lowe (Oculocerebrorenal)syndrome is an X-linked disorder characterized by psychomotor retardation, hypotonia, congenital cateracts, glaucoma and renal tubular dysfunction. In this report we present a patient with a new finding of periventricular white matter cystic lesions demonstrated on magnetic resonance (MR) scans. 2012-09-26T12:54:23.060Z ]]> http://www.researchonline.mq.edu.au/vital/access/manager/Repository/mq:21615 A phenotypically female infant with 46-XY chromosomes was found to have Smith-Lemli-Opitz syndrome, type II a rare congenital malformation syndrome with many features of the more common classic Smith-Lemli-Opitz syndrome. The patient's skeletal survey revealed characteristic and previously undescribed skeletal anomalies which are reported. In addition a lipoma of the pituitary gland was found on magnetic resonance imaging. This lesion is particularly interesting given the hypothesized steroid abnormality in Smith-Lemli-Opitz, type II syndrome, the sexual ambiguity of males with this syndrome and the similarity of this syndrome to the Pallister-Hall syndrome which characteristically has a hamartoblastoma of the hypothalamus. 2012-09-26T12:54:22.387Z ]]>