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, osteodysplasty

Melnick-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.

Mel·nick-Nee·dles os·te·o·dys·plas·ty

(melnik nēdĕlz ostē-ō-dis-plastē) 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. Autosomal dominant and recessive inheritance have also been suggested.
Synonym(s): osteodysplasty.

Mel·nick-Nee·dles os·te·o·dys·plas·ty

(melnik nēdĕlz ostē-ō-dis-plastē) [MIM*309350] A generalized skeletal dysplasia with prominent forehead and small mandible.
Synonym(s): osteodysplasty.

单词	melnick-needles osteodysplasty
释义	Melnick-Needles osteodysplasty Melnick-Needles osteodysplasty (mel'nick nē'dĕlz), [MIM309350] 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 [MIM309350]. Autosomal dominant and recessive inheritance [MIM249420] have also been suggested. Synonym(s): Melnick-Needles syndrome, osteodysplasty Melnick-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. Mel·nick-Nee·dles os·te·o·dys·plas·ty (melnik nēdĕlz ostē-ō-dis-plastē) 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. Autosomal dominant and recessive inheritance have also been suggested. Synonym(s): osteodysplasty. Mel·nick-Nee·dles os·te·o·dys·plas·ty (melnik nēdĕlz ostē-ō-dis-plastē) [MIM309350] A generalized skeletal dysplasia with prominent forehead and small mandible. Synonym(s): osteodysplasty.
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