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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.
Melnick-Needles syndromeA 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.
Gain-of-function mutations in FLNA, which encodes filamin A, cause Melnick-Needles syndrome.
[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 C