A Rare Case of Ross Syndrome

Robinow Syndrome: a Rare Case Report from a Tertiary Care Hospital in Eastern India

Background Robinow syndrome is a rare congenital disorder with phenotypically heterogeneous abnormalities. Two modes of inheritances are known for this syndrome namely autosomal recessive and autosomal dominant. Case Report We describe here an eighteen-month-old child who had mesomelic short stature, abnormal facial features, clinodactyly, micropenis and vertebral changes which were further sup...

A Rare Occurrence of Ambiguous Genitalia in Meckel-Gruber Syndrome (MGS): A Case Report

Background: Meckel-Gruber Syndrome (MGS) is a rare autosomal recessive congenital syndrome with triad of encephalocele, polydactyly, and polycystic kidneys. The worldwide incidence of the MGS is 1 in 1.3-1 in 140,000 live births. The highest incidence of 1 per 1,300 live births (carrier rate of 1 in 18) was reported in Gujarati Indians. MGS is caused by mutation in the...

Motor Aphasia as a Rare Presentation of Fat Embolism Syndrome; A Case Report

  Fat embolism syndrome is a clinical diagnosis, and diagnostic procedures are not specific. In every trauma patient, Fat embolism syndrome has to be considered as a possibility and supportive treatment should begin as soon as possible. The authors reported a rare case of Fat embolism syndrome whose only neurological symptom was motor aphasia. A young man sustained comminuted femoral shaft frac...

Ortner’s Syndrome-A Rare Cause of Hoarseness: Its Importance to an Otorhinolaryngologist

Introduction: Cardiovocal hoarseness (Ortner’s syndrome) is hoarseness of voice due to recurrent laryngeal nerve involvement secondary to cardiovascular disease. Recurrent laryngeal nerve in its course (especially the left side) follows a path that brings it in close proximity to numerous structures. These structures interfere with its function by pressure or by disruption of the nerve caused b...

Prepubertal Diagnosis of Klinefelter Syndrome: A Rare Case Report

Klinefelter syndrome is characterised by advancing testicular function deterioration causing aspermatogenesis and androgen deficiency. Klinefelter patients characteristically have complete male sex differentiation, and genital anomalies are infrequently associated. Penoscrotal malformations at birth are very rare in this syndrome. Nonetheless, it is important to know the association, as one of...

A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH