Prenatal and postnatal findings in a case with the autosomal recessive type of Robinow syndrome

Our aim was to present a prenatally diagnosed case with Robinow syndrome in a consanguineous couple and discuss possible differential diagnosis in view of the literature.

A 28-year-old pregnant woman gravida 2 para 1 was referred to the obstetric clinic of Kahramanmaras Sutcu Imam University presenting with a fetus having shortened upper and lower limbs at 33 weeks of gestation. Her medical history was unremarkable except for consanguinity. Prenatal ultrasonographic examination revealed a reduced humerus and femur length. Further, shortening of the forearm, frontal bossing, mild hypertelorism, reduced thoracic perimeter and hemivertebrae at the thoracic level were present.

Meticulous neonatal examination was performed following an uncomplicated vaginal delivery at 39 weeks of gestation. Distinct facial appearance in addition to the prenatal findings argued in favor of the diagnosis of Robinow syndrome. Additionally, radiological survey revealed and confirmed shortening of the upper extremities and thoracic hemivertebrae.

We are documenting the case on the account of its rarity and additional features. The main approach in the differential diagnosis of Robinow syndrome should determine whether hemivertebrae is isolated or part of a syndrome or association.