Congenital multiple exostoses with congenital heart disease

Abstract

Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases. It is known as hereditary multiple exostoses, hereditary multiple osteochondromas, and to fit this diagnosis, there should be at two or more exostoses; usually, long bones of cartilaginous origin such as those of the extremities are mostly affected often sparing the face, these exostoses are osteochondromas arising close to the growth plate (metaphysis and epiphysis). This communication highlights the case of a 42-day-old female delivered at the 7th month gestational age to a nonconsanguineous family setting; she was admitted with the complaint of convulsions and poor suck; she was the second of a set of twin; the first twin was essentially healthy. There was no history of fever or difficulty of breathing. The delivery was at home and she was said to be small at birth, the birth weight was not measured, and cried poorly. On examination, she was wasted with a weight of 1.4 kg, and the length was 34 cm with an occipitofrontal circumference of 29 cm. The lower limbs were malformed with exostosis arising from both shins; she also had a ventricular septal defect.

Keywords

• congenital malformation
• multiple exostoses
• ventricular septal defect
• wasting