An Infant With Short Stature And Red Cheeks (Rothmund-Thomson Syndrome)

An infant presented with short stature and progressive skin lesions on the cheeks and hands, along with recurrent diarrhea and respiratory infections, initially suggesting conditions like zinc deficiency and Bloom syndrome. However, the final diagnosis was Rothmund-Thomson syndrome, a rare genetic disorder. This syndrome was characterized by a range of symptoms including distinctive skin changes, cataracts, skeletal anomalies, short stature, abnormal hair growth, defective nails and teeth, mental retardation, hypogonadism, and a typical facial appearance.