Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features

Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital, sclerosing bone dysplasia that causes cranio-tubular hyperostosis, ectodermal dysplasia (cutis laxa and enamel hypoplasia), osseous dysgenesis of hands and feet with diaphyseal cortical thickening of tubular bones and intellectual disability. Only a few cases of this syndrome have been reported in the literature so far. We report another case of LMHD with cranio-tubular hyperostosis, cutis laxa, wide open anterior and posterior fontannels, hypertelorism and thickening of diaphysis of tubular bones in a six months old Pakistani female patient. Notably, some secondary phenotypic clinical features such as multiple bony deformities, multiple skin tags and a space occupying lesion in posterior cranial fossa (Lipoma) resulting in obstructive hydrocephalus were also present in this patient. These atypical features have never been previously reported with LMHD, to the best of our knowledge. This case extends the variable phenotype and associated features of this syndrome.