Paranaíba Lívia Máris Ribeiro, Martelli-Júnior Hercílio, de Miranda Roseli Teixeira, Bufalino Andréia, Abdo Filho Ruy Camargo, Coletta Ricardo D
Department of Oral Diagnosis, School of Dentistry, State University of Campinas, Piracicaba, São Paulo, Brazil.
Cleft Palate Craniofac J. 2010 Sep;47(5):544-7. doi: 10.1597/09-063.
Ectrodactyly-ectodermal dysplasia-clefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. The disease is caused by heterozygous mutations in the 3q27-29 located p63 gene. In this paper we describe a 17-year-old girl affected by ectrodactyly-ectodermal dysplasia-clefting syndrome with a de novo p63 mutation that predicts a heterozygous missense substitution (arginine to tryptophan substitution caused by a cytosine to thymine transition) at the amino acid 304 (R304W) of the p63 DNA-binding domain. Scattered freckles on face, legs, and abdominal region, an uncommon feature associated with this syndrome, were recognized in our patient. The clinical features and genotype-phenotype correlation with previous p63 mutations related to the syndrome are discussed and compared with those observed in our patient. This case expands the phenotypic spectrum of ectrodactyly-ectodermal dysplasia-clefting syndrome.
缺指（趾）-外胚层发育不良-腭裂综合征是一种罕见的疾病，其临床谱系包括肢体、面部、眼部、内耳和泌尿生殖系统的畸形。该疾病由位于3q27 - 29的p63基因的杂合突变引起。在本文中，我们描述了一名17岁女孩，她患有缺指（趾）-外胚层发育不良-腭裂综合征，带有一个新生的p63突变，该突变预测在p63 DNA结合结构域的第304位氨基酸（R304W）处发生杂合错义替代（由胞嘧啶到胸腺嘧啶的转换导致精氨酸到色氨酸的替代）。在我们的患者中发现了面部、腿部和腹部区域散在的雀斑，这是与该综合征相关的一个不常见特征。本文讨论了该综合征的临床特征以及与先前p63突变相关的基因型-表型相关性，并与我们患者中观察到的情况进行了比较。该病例扩展了缺指（趾）-外胚层发育不良-腭裂综合征的表型谱。
