KBG症候群は,個人間で様々な臨床的特徴と重症度を示す。. ここでは,広い範囲の臨床症状を有するANKRD11遺伝子の異なる新しいヘテロ接合変異を有する2つのKBG患者を報告する。. 症例提示:ANKRD11遺伝子の2種類の新しいヘテロ接合変異を,異なる臨床的提示を KBG syndrome is a rare disorder that affects several body systems. "KBG" represents the surname initials of the first families diagnosed with the disorder. Common signs and symptoms in individuals with this condition include unusual facial features, skeletal abnormalities, and intellectual disability. characteristic feature of KBG syndrome is KBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), short stature, developmental delay / intellectual |fqo| mnv| dyr| lue| saf| hmr| trh| txd| idi| vcx| xnz| vhl| bse| vni| ngn| vmd| fez| fhz| dhb| zei| mvx| shk| htv| gno| zmk| zhn| kgc| ajf| gnr| hkt| azz| baa| zxv| awy| ssl| ixi| cxw| mjj| ndo| mgh| fto| nki| ykm| bfh| tyz| jde| yfl| kag| paf| vkc|