A 4-year-old boy presents with short stature, shawl scrotum, hypertelorism, broad nasal bridge, and hand abnormalities including brachydactyly and clinodactyly of the fifth finger. Intelligence is normal. The mother's brother had similar features. Which inheritance pattern is most likely?

• A Autosomal dominant
• B Autosomal recessive
• C Mitochondrial
• D X-linked recessive ✓

Explanation

The vignette describes Aarskog-Scott syndrome (facial-digital-genital syndrome), which classically presents with shawl scrotum, short stature, hypertelorism, brachydactyly, and normal intelligence. It is caused by mutations in the FGD1 gene and follows X-linked recessive inheritance, explaining the affected maternal uncle. Autosomal dominant and recessive patterns would not show this male-predominant transmission through the maternal line.

Reference: Smith's Recognizable Patterns of Human Malformation, 8th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.