Melnick-Needles syndrome

Melnick-Needles syndrome
a rare X-linked disorder (gene locus: Xq28), caused by mutations in the gene encoding filamin A. It is characterized by severe congenital bone abnormalities manifested by distinctive facies (exophthalmos, full cheeks, micrognathia, and malalignment of the teeth), flaring of the metaphyses of long bones, S-like curvature of the bones of the lower limbs, irregular constrictions in the ribs, and sclerosis of the base of the skull. It is lethal in males, resulting in death in utero or during the first few months of life, but not in females. Called also Melnick-Needles osteodysplasty.

Medical dictionary. 2011.

Игры ⚽ Поможем сделать НИР

Look at other dictionaries:

  • Melnick-Needles syndrome — Mel·nick Nee·dles syndrome (melґnik neґdəlz) [John Charles Melnick, American radiologist, 1928–2008; Carl F. Needles, American pediatrician, born 1935] see under syndrome …   Medical dictionary

  • Syndrome de melnick-needles — Référence MIM 309350 Transmission …   Wikipédia en Français

  • Syndrome de Melnick-Needles — Référence MIM 309350 Transmission Dominante à l X Chromosome Xq28 Gène FNLA Mutation Ponctuelle …   Wikipédia en Français

  • Melnick-Needles osteodysplasty — osteodysplasty of Melnick and Needles see under syndrome …   Medical dictionary

  • Needles — J.W., U.S. dentist. See N. split cast method. Carl F., U.S. pediatrician, *1935. See Melnick N. osteodysplasty, Melnick N. syndrome …   Medical dictionary

  • Melnick — John C., U.S. radiologist, *1928. See M. Needles osteodysplasty, M. Needles syndrome …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… …   Wikipedia

  • Boomerang dysplasia — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD10|Q|68|5|q|68 ICD9 = ICD9|754.44 ICDO = OMIM = 112310 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Boomerang dysplasia is a lethal form of osteochondrodysplasiacite… …   Wikipedia

  • osteodysplasty — SYN: Melnick Needles o.. SYN: Melnick Needles syndrome. [osteo + G. dys , bad, + plastos, formed] Melnick Needles o. a generalized skeletal dysplasia with prominent forehead and small mandible; radiographically, there are irregular ribbonlike… …   Medical dictionary

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”