Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases

CONCLUSIONS: The incidence of Joubert syndrome was at least 1 / 20,000 newborns / year. The pontomesencephalic and peduncular radiological alterations were constant. Hypotonia, psychomotor retardation, and thin / long fingers affected all cases.PMID:34308544 | DOI:10.33588/rn.7304.2021066

Source: Revista de Neurologia - July 26, 2021 Category: Neurology Authors: J M Ramos-Fern ández A Extraviz-Moreno R Calvo-Medina C Ruiz-Garc ía M D Mora-Ram írez Source Type: research