期刊文献+

1例患有罗-汤综合征及全部RAPADILINO特征的患者

A patient with Rothmund- Thomson syndrome and all features of RAPADILINO
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摘要 Background: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund- Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome(RA dial hypoplasia/aplasia,PA tellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size[>2 SDs below the mean in height] and Limb malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma- a hallmark of RTS- has been described as generally absent in RAPADILINO syndrome. Observations: We report herein a patient with RTS who carries a truncating mutation and a new lyidentified missense mutation of RECQL4. The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings. Conclusions: Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics. Background: Mutations of the human helicase gene RECQL4 have been identified in a subset of patients with Rothmund- Thomson syndrome (RTS) and in children with the diagnosis of RAPADILINO syndrome(RA dial hypoplasia/aplasia,PA tellar hypoplasia/aplasia, cleft or highly arched PAlate, DIarrhea and DIslocated joints, LIttle size[>2 SDs below the mean in height] and Limb malformation, and slender NOse and NOrmal intelligence). While many features of the 2 genetic disorders overlap, poikiloderma- a hallmark of RTS- has been described as generally absent in RAPADILINO syndrome. Observations: We report herein a patient with RTS who carries a truncating mutation and a new lyidentified missense mutation of RECQL4. The proband uniquely developed all criteria of RAPADILINO in addition to his prominent skin findings. Conclusions: Patients with RTS may possess all features of RAPADILINO. Consequently, a genetic approach to RTS and RAPADILINO could be beneficial. This approach may provide a better understanding of the wide variety of related phenotypic findings and improve prognostics.
机构地区 Dr.Jo'zsef A u
出处 《世界核心医学期刊文摘(皮肤病学分册)》 2005年第8期57-57,共1页 Digest of the World Core Medical JOurnals:Dermatology
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