Lenz-Majewski Syndrome Associated with Hydrocephalus and Multiple Congenital Malformations

Lenz-Majewski syndrome is a congenital progressive skeletal disorder hallmarked by craniotubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia) and hand/foot osseous dysgenesis or hypoplasia (brachysyndactyly, absent metacarpals, etc). So far, only ten cases of this syndrome have been described in literature. We present the eleventh case of Lenz-Majewski syndrome with craniotubular hyperostosis cutis laxa, brachysyndactyly, hypoplastic fingers and toes and an absent metatarsal in a Hispanic boy. Notable secondary phenotypic presentations were megalocornea and glaucoma, obstructive sleep apnea, laryngotracheobronchomalacia and severe hydrocephalus with intracranial hypertension requiring shunt placement. As far as we are aware, the latter features have not been previously reported with Lenz-Majewski syndrome. The present report demonstrated the variance associated with the secondary phenotypic burden of this syndrome.