A newborn girl has synophrys (joined eyebrows), hirsutism, long curled eyelashes, micrognathia, and small hands with proximally placed thumbs. She has severe feeding difficulties, gastroesophageal reflux, and global developmental delay. Growth parameters are below the third centile. Which additional finding would be most consistent with this diagnosis?

• A Structural anomaly of the upper limb skeleton
• B Self-destructive biting of fingers and lips
• C Congenital diaphragmatic hernia ✓
• D Cherry-red spot on fundoscopy

Explanation

Cornelia de Lange syndrome presents with synophrys, hirsutism, long eyelashes, micrognathia, small hands with proximal thumb placement, intrauterine growth restriction, and feeding problems; congenital diaphragmatic hernia is a well-described associated structural anomaly. Self-mutilation defines Lesch-Nyhan syndrome, a cherry-red spot suggests a sphingolipidosis such as Tay-Sachs disease, and isolated limb reduction defects point instead toward thalidomide exposure or other limb anomalies.

Reference: Jones' Smith's Recognizable Patterns of Human Malformation, 7th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.