Isolated ectrodactyly in a newborn with Down syndrome

Down syndrome (DS), trisomy 21, is the most common numerical chromosome abnormality among live born infants. Dysmorphic features, congenital malformations, cognitive impairment are major features. Musculoskeletal anomalies are associated with abnormal collagen function. Ectrodactyly is characterized by a deep median cleft of the hand and/or foot. Failure of apical ectodermal ridge while developing limbs leads to ectrodactyly. Here we report a patient diagnosed with DS and ectrodactyly which were split between the third and fourth fingers and there were 4 fingers on both hands. There was no additional musculoskeletal anomaly. Karyotype analysis revealed 47,XY,+21. To the best of our knowledge our patient is the first patient with DS and ectrodactyly. Pathogenesis ofmusculoskeletal anomalies in DS and ectrodactyly seems to be different which may be coincidental or not. In conclusion, patients with ectrodactyly should be evaluated for association with syndromes, and it should be kept in mind that patients with Down syndrome may have different organ anomaly from frequently seen anomalies.