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Joubert syndrome (JS) is an autosomal recessive genetic disorder characterized by hypotonia, ataxia, psychomotor delay, oculomotor apraxia, and neonatal breathing abnormalities.1,2 The molar tooth sign (MTS) on brain magnetic resonance imaging (MRI) is a typical finding for JS.1,2 Recent studies have suggested that bi-allelic LAMA1 variants cause Poretti-Boltshauser syndrome (PBS, OMIM# 615960), which shows cerebellar malformations, various degrees of neurodevelopmental disorder,3,4 and other findings common with JS. However, LAMA1 variants have not been identified in the large cohort of JS patients.3 Here we report a patient with bi-allelic LAMA1 variants clinically diagnosed with JS.
We obtained consent from the parents of the patient for genetic analysis and publication of this case report.
A Japanese boy was the first child of unrelated, healthy parents: a 32-year-old father and a 29-year-old mother. The family history was unremarkable. Fetal ultrasound screening at 23 weeks’ gestation revealed dilated lateral ventricles and hypoplasia of the cerebellar vermis. Fetal MRI at 32 weeks’ gestation revealed hypoplastic splenium of the corpus callosum. He was born at 38 weeks 6 days’ gestation via vaginal delivery. His birth body weight was 2,750 g (−0.6 SD), body length 50 cm (+0.7 SD), and head circumference 32.4 cm (−0.6 SD). He showed frequent apnea at 11 h postpartum and was...