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Article

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report.

BMC pediatrics - 8 Mar 2023

Pálla Sára, Anker Pálma, Farkas Klára, Plázár Dóra, Kiss Sándor, Marschalkó Péter, Szalai Zsuzsanna, Bene Judit, Hadzsiev Kinga, Maróti Zoltán, Kalmár Tibor, Medvecz Márta

Abstract excerpt

BACKGROUND: Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively. Both neurofibromin 1 and cartilage oligomeric matrix protein (COMP) play a role in the development of the skeleton. Carrying both germline mutations has not been previously reported; however, it can affect the developing phenotype. CASE...

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PMID: 36890482
DOI: 10.1186/s12887-023-03920-7
PMCID: PMC9993747

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