Joubert syndrome with facial dysmorphology

Three males from a consanguineous Arab family had Joubert syndrome and unusual facial appearance. The facial anomalies were similar to those of a previously reported patient and included early frontal bossing and micrognathia, with later normal forehead and mild prognathism, mild ptosis with down-slanting palpebral fissues in the older sibling, bulbous nose, high palate, prominent ear lobes, and short neck; single palmar creases were also present. Major anomalies included hypogonadism (small phallus with hypoplastic scrotum) and hypoplasia of the cerebellum with prominent fourth ventricle. Karyotypes, metabolic screening, and levels of the peroxisomal enzyme dihydroxyacetone phosphate acyltransferase were normal.