Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

ABSTRACT:

Background

Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP binding domain-containing 2 (EFTUD2) gene variants, respectively. The coexistence of two distinct Mendelian disorders in a single individual is uncommon and challenges the traditional paradigm of a single genetic disorder explaining a patient's symptoms, opening new avenues for diagnosis and management.

Case presentation

We present a case of a female patient initially diagnosed with achondroplasia due to a maternally inherited pathogenic FGFR3 variant. She was referred to our genetic department due to her unusually small head

SUBMITTER: Lyulcheva-Bennett E 

PROVIDER: S-EPMC11378366 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature