Timothy Syndrome: A Life-Threatening Syndactyly Association: A Case Report.

Abstract

According to some reports, syndactyly is the most common congenital hand malformation1. Syndactyly occurs in two or three of 10,000 live births, and it is bilateral in half the reported cases. Between 10% and 40% of patients have a positive family history, and the disorder is inherited as an autosomal dominant trait. Involvement of the ring and long fingers is most common. Typically, syndactyly of the hand occurs as an isolated condition; however, it can occur with syndactyly of the toes or as part of a syndrome. The three most commonly associated syndromes, Apert syndrome, Poland syndrome, and acrosyndactyly from amniotic band syndrome, are all well described. We present the case of a child who had syndactyly of the hands with a rarely described, but fatal, syndrome called Timothy syndrome . Timothy syndrome is a recently described condition comprising syndactyly, cardiac abnormalities, cardiac arrhythmias, developmental delay, and autism. Timothy syndrome has been reported in the cardiology, anesthesiology, and genetics literature, but not, to our knowledge, in the orthopaedic, plastic surgery, or hand surgery literature. The subtle manifestations and potentially deadly nature of the condition—which, when it occurs, is always associated with syndactyly—highlight the need for awareness among physicians involved in the care of children with syndactyly. The present case report received exempt approval from the institutional review board. The parent(s) and/or guardian(s) of the patient signed a Protected Health Information and Photography Release Form regarding the images included in the report. A nine-month-old boy presented for evaluation of bilateral syndactyly of the hand. He had been born by caesarean section after thirty-three weeks of gestation secondary to maternal preeclampsia. He was very small, weighing only 1.5 kg (3.3 lb) at birth. He spent three and a half weeks in the neonatal intensive care unit, although there were no …