Bedeschi Maria Francesca, Escande Fabienne, Bellini Melissa, Natacci Federica, Cavallari Ugo, Lalatta Faustina
Medical Genetic Unit, IRCCS Foundation Policlinico, Mangiagalli and Regina Elena Department of Biology and Medical Sciences, University of Milan, Milan, Italy Laboratory of Biochemistry and Molecular Biology, Institute of Pathology and Biology, University Hospital Lille, Lille, France.
Clin Dysmorphol. 2006 Oct;15(4):239-241. doi: 10.1097/01.mcd.0000220618.01144.6d.
We report the case of a young boy with fine hair, mild nail dysplasia, blocked nasolacrimal ducts, absence of central incisors, bilateral oligodactyly of feet and anal stenosis. His father showed the same spectrum of anomalies with mild expression. He had mild nail dysplasia, blocked nasolacrimal ducts, inferior dental cysts with consequent premature tooth loss, frequent dental decays consequent to enamel abnormality and cutaneous syndactyly of the second and third right toe. The acro-dermato-ungual-lacrimal-tooth syndrome was suspected and molecular analysis of the P63 gene was performed, but no mutation was found. Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family.
我们报告了一名年轻男孩的病例，他头发细软，指甲发育不良，鼻泪管堵塞，中切牙缺失，双脚双侧少指畸形以及肛门狭窄。他的父亲表现出相同的一系列异常，但症状较轻。他有轻度指甲发育不良、鼻泪管堵塞、因下牙囊肿导致的过早牙齿脱落、由于牙釉质异常引起的频繁龋齿以及右第二和第三脚趾皮肤并指畸形。怀疑为肢端-皮肤-指甲-泪腺-牙齿综合征，并对P63基因进行了分子分析，但未发现突变。尽管P63基因分析结果为阴性，但我们认为这两个病例在临床上都与肢端-皮肤-指甲-泪腺-牙齿综合征有重叠，并证实了这种病症在同一家族中的广泛表现。
