The 12(th) rib syndrome is a disease that causes pain between the upper abdomen and the lower chest. It is assumed that the impinging on the nerves between the ribs causes pain in the lower chest, upper abdomen, and flank. A 74-year-old female patient visited a pain clinic complaining of pain in her back, and left chest wall at a 7 on the 0-10 Numeric Rating scale (NRS). She had a lateral fixat...

Isolated fracture of a cervical rib is a very rare entity and usually presents as a painless swelling or as thoracic outlet syndrome. We describe a case of a 45-year-old woman with history of fall two months back. She presented with symptoms of neurogenic thoracic outlet syndrome for one month. Isolated left cervical rib fracture was documented on X-ray cervical spine. Her fractured cervical ri...

Polydactyly is a fairly common congenital condition of the foot and is characterized literally by supernumerary toes (digit or metatarsal). The frequency of polydactyly varies widely among populations. It may be an isolated condition or part of a congenital syndrome. Polydactyly is generally classified into three major groups: medial ray (preaxial), central ray and lateral ray (postaxial). The ...

The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene. Urogenital and renal abnormalities and...

In years past, a rather voluminous literature has accumulated dealing with certain neurologic and circulatory deficits that occur in the upper extremities. Cervical rib syndrome, scalenus anticus syndrome, Naffziger syndrome, and scalenus neurocirculatory compression syndrome are among the names applied to the variable symptom complex found present in a small percentage of individuals with abno...

Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births. Highest incidence was reported in Gujarati Indians. We report a rare case of Meckel-Gruber syndrome and review of literature.

Meckel Gruber Syndrome is a rare syndrome inherited as Mendelian autosomal recessive condition. The affected infant usually has a large occipital encephalocoele associated with renal cysts and sometimes polydactyly. The prognosis is poor. The affected child is still born or dies early in infancy. If diagnosis is done by prenatal ultrasound examination termination of pregnancy can be done.

Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. BBS expression varies both within and between families and diagnosis is often difficult. We sought to define the condition more clearly by studying 109 BBS patients and their families, the largest po...