| 释义 |
Melnick-Needles syndrome
Melnick-Needles osteodysplasty (mel'nick nē'dĕlz), [MIM*309350] a generalized skeletal dysplasia with prominent forehead and small mandible; radiographically, there are irregular ribbonlike constrictions of the ribs and tubular bones; probably X-linked [MIM*309350]. Autosomal dominant and recessive inheritance [MIM*249420] have also been suggested. Synonym(s): Melnick-Needles syndrome, osteodysplastyMelnick-Needles syndrome A severe X-linked bone disorder (OMIM:309350) characterised by a typical facies: exophthalmos, full cheeks, micrognathia, malalignment of teeth, flaring of the metaphyses of long bones, bowing of legs, irregular constrictions in the ribs, and sclerosis of the base of skull.
Molecular pathology
Gain-of-function mutations in FLNA, which encodes filamin A, cause Melnick-Needles syndrome.Melnick-Needles syndrome (mel′nik-nēd′lz) [John C. Melnick, U.S. radiologist, b. 1928, Carl F. Needles, U.S. physician b. 1935] A rare inherited disorder of bone development, characterized by facial abnormalities (including wide spacing of the eyes and an undersized jaw), bowing of the long bones, short stature, a small chest, and other anomalies.Melnick, John C., U.S. radiologist, 1928–. Melnick-Needles syndrome - a generalized skeletal dysplasia with prominent forehead and small mandible. Synonym(s): osteodysplasty
Needles, Carl F., U.S. pediatrician, 1935–. Melnick-Needles syndrome - see under Melnick, John CAcronymsSeeMNS |