Melnick-Needles syndrome

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

Tracheal stenosis



合計: 1

                       


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PMID (PMCID)
20888935
 MALE Child
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Sole G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L.
Eur J Med Genet. 2011;54(1):25-8.
Respiratory manifestations have not been associated with FLNA disorders with the exception of tracheal stenosis and pulmonary hypoplasia associated with frontometaphyseal dysplasia and Melnick-Needles syndrome.