Melnick-Needles syndrome in family of a 16 months old girl:
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Melnick-Needles syndrome (MNS) is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A. It is inherited in an X-linked dominant manner. This study describes three members of the same family with MNS, who exhibited different phenotypic severity despite having an identical FLNA gene mutation.

The patient was 16 months old, with a history of delayed physical development, multiple upper respiratory infections and otitis media episodes. Both upper and lower extremities were bowed. Plain X-rays showed thoracolumbar kyphoscoliosis, with anterior and posterior vertebral scalloping, and thin, wavy ribs. Hypoplasia of the pubis and ischium, with bilateral coxa valga, were also noted. Target exome sequencing revealed a heterozygous mutation of FLNA.

Her older sister and mother had minimal deformities of the axial and extremity skeleton, but genetic analyses revealed the same FLNA mutation as the patient. The mutation identified in this family has not been previously reported.

This report illustrates the potential inherited nature of MNS and the phenotypic variability of clinico-radiologic characteristics. In patients with traits suggestive of MNS, a careful medical and family history should be obtained, and genetic testing should be performed for the patient, as well as all family members. Although MNS is rare, physicians should be aware of the disorder, including its variable manifestations, because of the potential lethality of severe disease.