A neonate has a 'cat cry' at birth, microcephaly, low birth weight, epicanthal folds, and wide-set eyes. Chromosomal microarray confirms a deletion of chromosome 5p. This condition is:

• A Cri-du-chat syndrome (5p deletion) ✓
• B Wolf-Hirschhorn syndrome (4p deletion)
• C Williams syndrome (7q11 deletion)
• D DiGeorge syndrome (22q11 deletion)

Explanation

Cri-du-chat syndrome (5p minus syndrome) results from deletion of the short arm of chromosome 5. The pathognomonic feature is a high-pitched cat-like cry in newborns due to laryngeal hypoplasia/microcephaly. Other features include round face, wide-set eyes, downslanting palpebral fissures, low birth weight, and severe intellectual disability. Wolf-Hirschhorn syndrome (4p deletion) presents with 'Greek warrior helmet' facies and seizures.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.