Case Report

Maxillofacial Changes in Melnick-Needles Syndrome

Table 1

Chart of similarities and differences between the reported syndrome and other syndromes with FLNA gene mutation.

Other syndromes caused by mutations in FLNA geneSimilarities between MNS and other syndromes with FLNA gene mutationDifferences between MNS and other syndromes with FLNA gene mutation

Frontometaphyseal dysplasia(i) Skeletal dysplasia(i) Supraorbital hyperostosis
(ii) Irregular cortex in long bones
(iii) Deafness
(iv) More severe skeletal and facial manifestations than OPD1
(v) Metacarpophalangeal and interphalangeal joint defects

Otopalatodigital dysplasia type I(i) Deformities on the tips of fingers and toes
(ii) Abnormal palate
(i) Among all, the phenotype is milder in men
(ii) Supraorbital hyperostosis
(iii) Deafness
(iv) Slightly reduced stature

Otopalatodigital dysplasia type II(i) Abnormal palate(i) More severe than type I
(ii) Facial dimorphism
(iii) Hypoplasia of thorax
(iv) More accentuated anomalies in fingers and toes
(v) Hydrocephalus, obstructive uropathy, heart defects, and omphalocele
(vi) Most die in prenatal period or childhood