Lenz majewskihyperostotic dwarfism: A Pakistani patient with atypical features

Area of Science:

• Medical Genetics
• Skeletal Dysplasias
• Rare Diseases

Background:

• Lenz-Majewski Hyperostotic Dwarfism (LMHD) is an extremely rare congenital sclerosing bone dysplasia.
• It is characterized by cranio-tubular hyperostosis, ectodermal dysplasia, and intellectual disability.

Observation:

• A six-month-old Pakistani female presented with typical LMHD features including cranio-tubular hyperostosis and cutis laxa.
• The patient also exhibited wide-open fontanelles, hypertelorism, and diaphyseal thickening of long bones.

Findings:

• This case presented with previously unreported secondary features: multiple bony deformities, skin tags, and a posterior cranial fossa lipoma causing obstructive hydrocephalus.
• These atypical findings expand the phenotypic variability of LMHD.

Implications:

• This case highlights the importance of recognizing the broad spectrum of LMHD presentations.
• Further research into the genetic and clinical underpinnings of LMHD is warranted to improve diagnosis and management.