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A 10 year old boy, brought for the evaluation of short stature, was found to have facial dysmorphism in the form of a bulbous nose, long philtrum and a thin upper lip. He had lateral thinning of eye brows though his scalp hair was normal. Skeletal abnormalities included broad hands and feet, brachyclinodactyly, brachytarsia with broad thumbs and toes. Since he manifested the classic triad of craniofacial, skeletal and hair abnormalities, he was diagnosed to have Trichorhinophalangeal syndrome (TRPS) type 1. Radiological evidence of cone shaped epiphysis in some of the proximal phalanges was diagnostic. In addition, the boy had evidence of growth hormone deficiency and has been started on growth hormone therapy. TRPS type 1 with growth hormone deficiency is being reported for the first time from the Indian sub continent.
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Author(s): Lenin MR Sowmya Sampath Shobhana Sivathanu J Henry Suresh David
Trichorhinophalangeal syndrome, Long philtrum, Cone shaped epiphysis, Hypotrichosis, Growth hormone deficiency