Majewski Syndrome, Short Rib Polydactyly Syndrome (SRPS) Type II - A Rare Case Report, with Review of Literature.

Short Rib Polydactyly Syndrome (SRPS) type II also known as Majewski syndrome, is the rarest of the four subtypes of SRPS which is a rare inherited skeletal dysplasia. We report a case of Majewski syndrome in a neonate with brief review of literature. A 24 years old primigravida, with history of second degree consanguineous marriage underwent a Prenatal USG which revealed anhydramnios, bilateral enlarged kidneys, extremely narrow thorax and bilateral short limbs with polydactyly. Based on these findings a probable diagnosis of lethal skeletal dysplasia was made and termination of pregnancy advised. Refusing termination the mother delivered a male foetus at 30 weeks with severe respiratory distress and gross anomalies. The foetus succumbed to respiratory failure inspite of resuscitation. Gross findings were a male foetus with enlarged head, hydropic face, hypertelorism, short nose, depressed nasal bridge, pseudo cleft lip, cleft palate, low set posterior rotated ears, cystic hygroma, micrognathia, short and narrow chest, all the limbs showed mesomelic limb shortening, postaxial polydactyly, syndactyly and brachydactyly. Postnatal X-ray, CT scan and USG confirmed the above mentioned features and additional findings were extremely short horizontal ribs and disproportionately shortened ovoid tibia. Autopsy revealed a bell shaped thorax, small hypoplastic lungs, bilateral enlarged kidneys, atrial septal defect, hypoplastic epiglottis and larynx and short small intestine. Microscopic findings of pulmonary hypoplasia, renal cystic dysplasia, hepatic fibrosis and markedly retarded endochondral ossification correlate with the clinical, radiological and pathological findings of Short Rib Polydactyly Syndrome Type II -Majewski Syndrome.

Collecting Duct Carcinoma of the Kidney.

Collecting duct carcinoma (CDC) is a rare, highly aggressive malignant neoplasm that arises from the collecting duct epithelium of the kidney. It generally pursues a more aggressive course than conventional renal cell carcinoma. The average age is approximately 53 years. These are large tumors commonly located in medulla or central part of kidney with extension into perinephric fat and invasion into renal pelvis. Microscopically, they show combined tubulo-papillary, microcystic and solid growth pattern; cells are highly atypical with a basophilic or eosinophilic cytoplasm and polymorphic nuclei, often of the hobnail type. Stromal desmoplasia and dysplastic changes in the neighbouring medullary renal tubules are often associated. Their biologic behaviour is mostly aggressive with a high rate of local, lymphatic and haematogenous spread at the times of diagnosis and a poor long-term prognosis.