A new case of Melnick-Needles syndrome with skeletal manifestations: A case report.

ABSTRACT:

Introduction and importance

Melnick-Needles syndrome (MNS) is a rare skeletal dysplasia that affects skeletal and connective tissue. Less than 70 cases of MNS reported in the literature. MNS had various clinical manifestations such as skeletal deformity, cortical bony sclerosis, facial abnormality, and urogenital symptoms.

Case presentation

We presented a 5-year-old girl who referred to our orthopedic clinic with knee valgus deformity, spinal kyphoscoliosis, bilateral coxa valga, and humerus cortical irregularity. Based on some facial and skeletal feature, MNS was confirmed with genetic evaluation (heterozygote Filamin A genome).

Clinical discussion

The diagnosis of MNS requires a thorough medical and family history, physical examination, and radiographic evaluation.

SUBMITTER: Zargarbashi R 

PROVIDER: S-EPMC10436170 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature