The spondylocostal dysostoses (SCDs) are a heterogeneous group of vertebral malsegmentation disorders that arise during embryonic development by a disruption of somitogenesis. Previously, we had identified two genes that cause a subset of autosomal recessive forms of this disease: DLL3 (SCD1) and MESP2 (SCD2). These genes are important components of the Notch signaling pathway, which has multip...

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...

than to the traditional problems in the historiography of its subject. The text, which (as the editor shows) probably derives from medical teaching at Naples around the turn of the seventeenth to the eighteenth century, sheds little new light on the old controversial question of the bark's first introduction into European medicine. Obviously relying on Sebastiano Bado's Anastasis corticis peruv...

Robinow syndrome (RS) is an extremely rare condition. Characteristic craniofacial findings of RS include a fetal facial appearance, ear abnormalities and oral findings. The aim of this case report was to evaluate the oral findings of a 26-year-old man with RS and to describe the dental treatments performed. The patient had short stature, vertebral anomalies, short and broad fingers, a fetal fac...

Goldenhar Syndrome is a rare, generally sporadic condition, whose physical manifestations include asymmetric incomplete facial development, epibulbar dermoids, auricular malformations e auricular appendices, vertebral anomalies, central nervous system disturbances, ocular irregularities and visceral abnormalities. Its etiology is not fully understood, with its incidence ranging from 1:3500 to 1...

Duplication of penis has been reported to occur once in every 5 to 6 million live births.[1] It presents as duplication of only glans to complete duplication of the phallus and usually associated with other anomalies like bifid scrotum, double bladder, vertebral anomalies and ano-rectal malformations etc.[2] With this backdrop, herein we present a newborn with complete duplication of the entire...

The oculo-auriculo-vertebral spectrum (OAVS) (OMIM % 164210) is a common developmental disorder characterized by hemifacial microsomia, epibulbar tumours, ear malformation and vertebral anomalies. Although rare familial cases suggest that OAVS has a genetic basis, no genetic defect has been identified so far. In a patient with OAVS and a chromosomal translocation t(4;8) we have found that the c...