Cri du Chat syndrome (CCS) is a rare genetic disorder characterized by a distinctive high-pitched cry, microcephaly, flat nasal bridge, facial dysmorphism, and intellectual disability, resulting from a deletion on the short arm of chromosome 5p. CCS is associated with significant morbidity and mortality. Goldenhar syndrome presents a triad of epibulbar dermoids, preauricular appendages, and pretagal fistulas, along with various systemic anomalies including cardiac, neurological, and vertebral defects. This report details a unique case of a 1.4-year-old male exhibiting features of both CCS and Goldenhar syndrome. The patient presented with visual impairment, feeding difficulties, and developmental delay. Clinical examination revealed micrognathia, a preauricular tag, and a characteristic cat-like cry. Genetic analysis confirmed a deletion in the p arm of chromosome 5, while echocardiography indicated congenital heart defects. Neuroimaging showed delayed myelination and structural brain abnormalities. The patient was started on vision stimulation therapy and referred for comprehensive care, including genetic counseling for the rare combination of syndromes. Both the syndromes require thorough systemic evaluation and early rehabilitation to address the associated neurological and developmental challenges. This case underscores the importance of recognizing overlapping genetic syndromes for timely diagnosis and intervention.
Janardhanan et al. (2026) studied this question.