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. 2023 Jan 26;14(2):322. doi: 10.3390/genes14020322

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© 2023 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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(A–E) Family 4. Patient 7 (Family 4: II-2). Age 8 years. Generalized osteopenia is evident. All long bones are slender, with humeri, femora, and tibiae severely shortened and curved. Proximal epiphyses and metaphyses of humeri are large. Multiple past fractures of long bones are evident. (E) Distal femora are bulbous with popcorn calcifications (arrows). Right proximal tibia has popcorn calcifications (arrow). (F–K) Family 5. Patient 8 (Family 5: II-2). Age 15 years. Generalized mild osteopenia. Humeri and femora are shortened. Fractured left proximal ulnar is seen. Unlike other patients, long bones are not slender. Femora and left humerus are bowed. Tibiae and fibulae are severely bowed anteriorly. Popcorn calcifications are not observed.