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Abstract：
Schinzel-Giedion syndrome is a rare autosomal dominant disorder comprising postnatal growth failure, profound developmental delay, seizures, facial dysmorphisms, genitourinary, skeletal, neurological, and cardiac defects. It was recently revealed that Schinzel-Giedion syndrome is caused by de novo mutations in SETBP1, but there are few reports of this syndrome with molecular confirmation. We describe two unrelated Brazilian patients with Schinzel-Giedion syndrome, one of them carrying a novel mutation. We also present a review of clinical manifestations of the syndrome, comparing our cases to patients reported in literature emphasizing the importance of the facial gestalt associated with neurological involvement for diagnostic suspicion of this syndrome.
摘要：
Schinzel-Giedion综合征是一种罕见的常染色体显性疾病，包括出生后生长障碍，严重的发育迟缓，癫痫发作,面部畸形，泌尿生殖系统,骨骼，神经学,和心脏缺陷。最近发现Schinzel-Giedion综合征是由SETBP1的从头突变引起的，但是很少有关于这种综合征的分子证实的报道。我们描述了两名无关的巴西患者患有Schinzel-Giedion综合征，其中一个带有新的突变。我们还对该综合征的临床表现进行了综述，将我们的病例与文献中报道的患者进行比较，强调与神经系统受累相关的面部完形对于诊断怀疑该综合征的重要性。
