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1.

Lenz-Majewski hyperostosis syndrome

Lenz-Majewski hyperostotic dwarfism is a rare condition characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial and dental anomalies, loose skin, and distal limb anomalies, particularly brachydactyly and symphalangism. Patients have multiple radiographic abnormalities due to progressive generalized hyperostosis that affects the cranium, vertebrae, and diaphyses of tubular bones, leading to severe growth retardation (summary by Sousa et al., 2014). [from OMIM]

MedGen UID:
98483
Concept ID:
C0432269
Congenital Abnormality
2.

Progressive sclerosis of skull base

Progressively increasing bone density of the skull base without significant changes in bony contour. [from HPO]

MedGen UID:
331983
Concept ID:
C1835470
Finding

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