Scoliosis is a complex genetic disorder of the musculoskeletal system, characterized by three-dimensional rotation of the spine. Curvatures caused by malformed vertebrae (congenital scoliosis (CS)) are apparent at birth. Spinal curvatures with no underlying vertebral abnormality (idiopathic scoliosis (IS)) most commonly manifest during adolescence. The genetic and biological mechanisms responsi...

Meilor, D. H., Richardson, J. E., and Douglas, D. M. (1973). Archives of Disease in Childhood, 48, 537. Goldenhar's syndrome: oculoauriculo-vertebral dysplasia. Three cases of Goldenhar's syndrome diagnosed over a 4-year period in the newborn nursery all showed epibulbar dermoids, auricular appendices, and vertebral anomalies which are considered to be the hallmarks of the syndrome. The infants...

A rare complex dysraphic malformation, comprising segmental spinal dysgenesis with caudal agenesis, was found in a Holstein calf that was unable to stand and was slightly short at the lumbosacral spine with taillessness. The thoracolumbar and sacrococcygeal regions of the midline axial segments showed severe deformities. In the spinal cord, the thoracolumbar region showed severe constriction wi...

The lumbosacral region is of interest because of increased incidence of low back pain resulting from stress and strain. The lumbosacral spine supports and transmits weight of the body to the inferior extremity and thus plays an important role in posture. In lumbosacral transitional vertebra either the fifth lumbar vertebra may show assimilation to sacrum (sacralisation) or the first lumbar vert...

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n engl j med 369;8 nejm.org august 22, 2013 754 This Journal feature begins with a case vignette that includes a therapeutic recommendation. A discussion of the clinical problem and the mechanism of benefit of this form of therapy follows. Major clinical studies, the clinical use of this therapy, and potential adverse effects are reviewed. Relevant formal guidelines, if they exist, are presente...

Goldenhar syndrome is a well-known condition featuring the following triad of anomalies: ocular abnormalities, microtia and vertebral anomalies. This syndrome involves structures arising from the first and second branchial arches. Craniofacial anomalies, including mandibular, zygomatic and/or maxillary hypoplasias are found in 50% of patients with Goldenhar syndrome. Patients with this syndrome...

Glycosylation is a form of post-translational modification of proteins and occurs in every living cell. The carbohydrate chains attached to the proteins serve various functions. There are two main types of protein glycosylation: N-glycosylation and O-glycosylation. In this paper, we describe the O-glycosylation process and currently known congenital disorders of glycosylation associated with de...

An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of con...

OBJECTIVES Goldenhar syndrome (GS) is a relatively common developmental disorder characterized by craniofacial anomalies in association with vertebral, cardiac, renal, and central nervous system defects. This paper describes GS features with special emphasis on oral characteristics. MATERIAL AND METHODS The clinical features of 6 patients with GS aged 3 months to 12 years are described, and a...