Congenital cerebellar hypoplasia and hydrocephalus is reported in 8 Jersey calves. The possible relationship between this entity and BVDMD virus is discussed.

s-j syndrome is a rare autosomal recessive disorder of short stature, blepharophimosis, puckerd mouth, myotonia, muscular weakness, pectus carinatum and stiff joints. case report: first case: n.1. a boy aged 7 years. his main abnormalities included puckered lip, blephharophimosis, muscular hypertrophy and weakness, pectus carinatum, short stature, shoulder joint limitation and myopia. myotonic ...

David, T. J. (1973). Archives of Disease in Childhood, 48, 191. Congenital malformations of dermatoglyphs. A classification for congenital malformations of dermatoglyphs is presented, dividing them into ridge aplasia, ridge hypoplasia, ridge dissociation, ridges-off-the-end, and a combination of the last two. The medical and genetic significance of these are considered in the light both of prev...

purpose we performed a systematic review to assess the functional outcomes of birmingham hip resurfacing as reported in peer-reviewed literature. methods we performed a computerized search on the data sources up to february 2011. the following text and key words were searched: “birmingham hip”, “birmingham hip resurfacing” and “hip resurfacing”. each of these key words was again searched with “...

EDITOR—The syndrome of thrombocytopenia and absent radius (TAR syndrome) is an autosomal recessive condition characterised by congenital hypomegakaryocytic thrombocytopenia and bilateral radial aplasia with the presence of thumbs. 2 Associated abnormalities include other skeletal defects, cardiac malformations, and gastrointestinal disorders. Lower limb abnormalities, such as coxa valga, ankylo...

cartilage hair hypoplasia (chh), is a rare cause of metaphyseal chondrodysplasia and short stature. other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (hirschsprung disease, celiac, …) and increased risk of cancer. the disease is an autosomal recessive disorder and previously has not been reported in iran. we report a 9-year-old boy diagnosed as carti...

BACKGROUND The anaesthetic management of patients with Morquio syndrome is complicated by a number of factors including odontoid hypoplasia, atlantoaxial instability, thoracic kyphosis, and deposition of mucopolysaccharides in the soft tissue of the oropharnyx. CASE PRESENTATION Herein we describe the anaesthetic considerations and management of a 26 year old adult with Morquio syndrome, who ...

A 16-year-old girl who had Morquio syndrome presented with severe bilateral hip pain and limited mobility because of bilateral hip osteoarthritis and fixed flexion deformities. She was wheelchair bound for the previous 6 months. Cervical spine flexion-extension views showed mild subluxation (<3 mm), and there was thoracolumbar spine kyphosis. Magnetic resonance imaging of the cervical and thora...