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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Trichorhinophalangeal syndrome II, expanding the clinical spectrum
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Trichorhinophalangeal syndrome II, expanding the clinical spectrum

机译：棘鼻咽综合征II，扩大了临床范围

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We report a 4.5year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows. The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses. The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint. However our patient has some features not reported in TRPS II patients. These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs. So we have to expand the clinical spectrum. Karyotype demonstrated 46,XY,del 8(q23.3-q24.1).
机译：我们报告了一个4.5岁的埃及男孩，在健康的近亲近亲父母的出生顺序中排名第四。他具有Trichorhinophalangealeal综合征（TRPS）II的典型面部和骨骼特征。面部特征包括双侧向下倾斜的睑裂，球根状的鼻子，长的lt骨，反乳突，头皮稀疏的头发和浓密的眉毛。骨骼特征包括骨龄延迟，趾骨的锥形骨epi和多个外生骨。该患者还患有发育迟缓，中度智力障碍和右膝关节松弛。但是，我们的患者具有一些TRPS II患者未报告的特征。这些包括双侧局部上睑下垂，长睫毛，耳前皮肤标记，右手第二短指，两只拇指的短掌骨。因此，我们必须扩大临床范围。核型显示46，XY，del 8（q23.3-q24.1）。

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