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翻訳と辞書　辞書検索 [ 開発暫定版 ] スポンサード リンク Coarse facial features ： ウィキペディア英語版 Coarse facial features Coarse facial features or "'coarse facies"' describes a constellation of facial features that are present in many inborn errors of metabolism. Features include:〔 * large, bulging head * prominent scalp veins * "saddle-like, flat bridged nose with broad, fleshy tip" * large lips and tongue * small, widely spaced and/or malformed teeth * hypertrophic alveolar ridges and/or gums Heads tend to be longer than normal from front to back, with a bulging forehead. This is because of the earlier than normal or premature fusion of skull bones in an affected individual. ==Causes== Several conditions are associated with coarse facial features. *Acromegaly *Alpha-mannosidosis type II *Aspartylglycosaminuria *Battaglia Neri syndrome *Borjeson Syndrome *Chromosome 6q deletion syndrome *Coarse face - hypotonia - constipation *Congenital hypothyroidism *Dandy-Walker malformation (with mental retardation basal ganglia disease and seizures) *Dyggve-Melchior-Clausen Syndrome *Fucosidosis type 1 *Fucosidosis type II *Gangliosidosis generalized GM1 (type 1) *Gangliosidosis GM1 (type 3) *GM1 gangliosidosis *Goldberg syndrome *Hyde-Forster-Mccarthy-Berry syndrome *Hyper IgE *Hypomelanosis of Ito *I cell disease *Immunodeficiency due to defect in MAPBP-interacting protein *Infantile sialic acid storage disorder *Job syndrome *Mannosidosis (alpha B lysosomal) *McCune-Albright Syndrome *Mental retardation (X-linked - epilepsy - progressive joint contractures - typical face) *Mental retardation (X-linked Raynaud type) *Miescher's syndrome *Morquio syndrome *Morquio syndrome type A *Morquio syndrome type B *MPS 3 C *MPS 3 D *Mucolipidosis III *Mucopolysaccharidosis type 2 Hunter syndrome- mild form *Mucopolysaccharidosis type 2 Hunter syndrome- severe form *Mucopolysaccharidosis type 3 *Mucopolysaccharidosis type 6 *Mucopolysaccharidosis type 7 Sly syndrome *Mucopolysaccharidosis type I Hurler syndrome *Mucopolysaccharidosis type I Hurler/Scheie syndrome *Mucopolysaccharidosis type I Scheie syndrome *Multiple endocrine abnormalities - adenylyl cyclase dysfunction *Multiple endocrine neoplasia type 2b *Neuraminidase deficiency (type II juvenile form) *Nodulosis-arthropathy-osteolysis syndrome *Nonkeratan-sulfate-excreting Morquio syndrome *Pituitary tumors (adult) *Sialidosis type II (congenital) *Sialidosis type II (infantile) *Sialuria syndrome *Simpson-Golabi-Behmel syndrome *Simpson-Golabi-Behmel syndrome - type 1 (SGBS1) *Skeletal dysplasia - coarse facies - mental retardation *Spondyloepimetaphyseal dysplasia (genevieve type) *Sulfatidosis juvenile (Austin type) *Winchester syndrome 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Coarse facial features」の詳細全文を読む スポンサード リンク 翻訳と辞書 : 翻訳のためのインターネットリソース Copyright(C) kotoba.ne.jp 1997-2016. All Rights Reserved.