Skeletal anomalies in a patient with the Pallister/Teschler‐Nicola/ Killian syndrome

Abstract

We report on a 3–8/12‐year‐old boy with the Pallister/Teschler‐Nicola/Killian syndrome and previously unreported bilateral skeletal anomalies consisting of small feet and short but otherwise normal humeri, ulnae, femora, and fibulae. His peripheral blood chromosomes were normal; however, 47,XY,+ i(12p) was found in 100% of fibroblasts.