Facial dysmorphism in congenital rubella syndrome

To investigate the dysmorphic facial features in congenital rubella syndrome (CRS) and describe their associations with ocular and systemic features.

The medical records of children diagnosed with CRS between 2016 and 2021 were retrospectively reviewed for ocular and systemic features. CRS was diagnosed either on the basis of positive serology for rubella antibodies or with the classic triad of congenital cataract, sensorineural hearing loss, and congenital heart defect. Children with photographic documentation of the face were analyzed independently by three experienced investigators for facial dysmorphic features (triangular face, microcephaly, broad forehead, low anterior hairline, whorl on the anterior hairline, prominent nose, micrognathia). The dysmorphic feature was recorded as present only when at least two of the three examiners confirmed its existence.

CRS was diagnosed in 237 children: mean age at presentation, 5.45 ± 4.5 years; 126 males (53%); bilateral cataract, 176 (75%). Positive serology for rubella antibodies was noted in 153 children (65%). Photographic record of facial features was documented in 127 (54%). The most common dysmorphic facial feature was wide forehead (82 [65%]), followed by low anterior hairline with whorl (41 [32%]). However, microcornea (P = 0.9801), cataract (P = 0.8342), pupillary sphincter atrophy (P = 0.7421), and salt and pepper retinopathy (P = 0.8803) were not significantly associated with the presence of facial dysmorphism. Congenital heart disease was significantly associated with facial dysmorphism (P = 0.0308). Sensorineural hearing loss was not associated with the presence of facial dysmorphism (P = 0.8463).

Facial dysmorphism is common in children with CRS, but it was not predictive of the presence of ocular manifestations of CRS in this cohort.