Trichorhinophalangeal syndrome type I (TRPS I; MIM 190350) is a rare autosomal dominant disorder of congenital malformations due to variants of the gene TRPS1. We reported on an 11-year-old Chinese boy with TRPS I. He had typical clinical findings, including sparse hair, a bulbous nose, a long philtrum, a thin upper lip, and skeletal abnormalities including cone-shaped epiphyses, shortening of the phalanges, and short stature.
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