Knuckle, Knuckle, Dimple, Dimple: Do Not Miss A Diagnostic Opportunity

Area of Science:

• Pediatrics
• Genetics
• Endocrinology

Background:

• Turner syndrome (TS) diagnosis is often delayed due to subtle clinical manifestations.
• Short stature is a common presenting symptom in girls with TS.
• Archibald's metacarpal sign (absent 4th and 5th knuckles) is a potential indicator of TS.

Purpose of the Study:

• To highlight the diagnostic utility of specific physical findings in identifying Turner syndrome.
• To emphasize the importance of recognizing skeletal clues for early TS detection.
• To underscore the value of thorough physical examination in pediatric short stature cases.

Main Methods:

• Case report of a 13-year-old girl with short stature.
• Physical examination noting Archibald's sign and short metatarsals.
• Radiographic confirmation of metacarpal shortening.
• Karyotype analysis revealing Xp deletion.
• Comprehensive medical evaluation for TS-associated conditions.

Main Results:

• The patient presented with short stature and Archibald's sign, with no other obvious physical findings.
• Karyotype confirmed Turner syndrome (45,X with Xp deletion).
• Associated conditions included bicuspid aortic valve, autoimmune thyroiditis, and reduced ovarian reserve.

Conclusions:

• Archibald's sign, though not exclusive to TS, is a valuable physical clue that warrants further investigation.
• Early identification of TS through careful physical assessment facilitates timely intervention and management.
• Recognizing subtle skeletal abnormalities can significantly reduce diagnostic delays in Turner syndrome.