An Infant With Short Stature And Red Cheeks (Rothmund-Thomson Syndrome)
December 1991
in “
PubMed
”
Studysummary This report describes an infant who was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder characterized by diverse skin changes, short stature, and other developmental anomalies.
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The document described a case of an infant with short stature and progressive skin lesions on the cheeks and hands, initially suspected to have conditions like zinc deficiency, malabsorption syndrome, Bloom syndrome, and early Lupus Erythematosus. However, the final diagnosis was Rothmund-Thomson syndrome, a rare genetic disorder. This syndrome was characterized by a range of symptoms including typical skin changes, cataracts, skeletal anomalies, short stature, abnormal hair growth, defective nails and teeth, mental retardation, hypogonadism, and a distinctive facial appearance.
