PhotoQuiz 68

This 4-year-old girl, born to consanguineous parents, was brought for evaluation of short stature, recurrent pneumonia, and short fingers. Her brother died at 17 months due to pneumonia. Identify the condition.Answer to PhotoQuiz 67 Joubert syndrome Joubert syndrome is a genetically heterogeneous disorder, which belongs to the group of primary ciliopathies. It is characterized by malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis; these intracranial anomalies lead to the characteristic appearance called the ‘molar tooth’ sign in magnetic resonance imaging (MRI) of the brain. Affected individuals usually have global developmental delay, variable degree of intellectual disability, cerebellar ataxia, nystagmus, and hypotonia. Associated anomalies include postaxial polydactyly, cystic renal disease, retinal dystrophy and ocular colobomas. Around 40 different genes have been found to be associated with Joubert syndrome and majority of them have an autosomal recessive pattern of inheritance.