27 citations
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June 1989 in “Journal of Medical Genetics” This case report describes four patients with hypertrichosis cubiti and short stature, but could not determine a genetic link between hypertrichosis cubiti and skeletal dysplasia.
3 citations
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December 1991 in “PubMed” 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.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This case report from a pediatric setting highlighted how an 11-year-old with Hashimoto thyroiditis experienced atypical manifestations such as short stature, pubertal issues, and hair loss after starting levothyroxine therapy, underscoring the need for early diagnosis and multidisciplinary care to improve health outcomes.
July 2026 in “Zenodo (CERN European Organization for Nuclear Research)” In this case report, an 11-year-old girl with hypothyroidism was found to have Hashimoto thyroiditis after presenting with hair loss, short stature, and pubertal disturbances; the study emphasizes the importance of early diagnosis and personalized thyroid hormone therapy for better outcomes.
April 2020 in “Journal of the Endocrine Society” This case report highlights the importance of considering pituitary stalk interruption syndrome as a potential diagnosis for patients with short stature, as early detection may allow those affected to achieve normal height.