A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).
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DOI：
10.1002/ajmg.a.37173
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发表时间：
2015-10
期刊：
影响因子：
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通讯作者：
University of Washington Center for Mendelian Genomics
中科院分区：
文献类型：
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作者：
Lee H;Nevarez L;Lachman RS;Wilcox WR;Krakow D;Cohn DH;University of Washington Center for Mendelian Genomics
Schneckenbecken 发育不良 [OMIM 269250] 是一种常染色体隐性遗传、围产期致死性骨骼发育不良，最初由 [Borochowitz et al., 1986] 表征，并且在表型上与 Knowles et al. [1986] 描述的家族中受影响的个体相似。临床表现包括相对巨头畸形、面中部非常平坦、腭裂、颈部短、胸部狭窄、短指畸形以及羊水过多的发生率高。从前后位X光片上观察，最具特征性的X光异常是髂骨的内侧突出，类似于蜗牛（因此德语中称为蜗牛骨盆或Schneckenbecken）。其他发现包括车把锁骨、肩胛骨发育不良、具有小而圆形椎体的广泛性扁椎、非常短的长骨、相对加宽的干骺端以及过早骨化的腕骨和跗骨[Borochowitz et al., 1986; Nikkels 等人，2001]。
Schneckenbecken dysplasia [OMIM 269250] is an autosomal recessive, perinatal lethal skeletal dysplasia that was first characterized by [Borochowitz et al., 1986], and is phenotypically similar to affected individuals in a family described by Knowles et al.[1986]. Clinical findings include relative macrocephaly, a very flat midface, cleft palate, a short neck, a narrow thorax, brachydactyly, and a high incidence of polyhydramnios. The most characteristic radiographic abnormality, as viewed on an anterior-posterior radiograph, is a medial projection from the ilia that resembles a snail (thus snail pelvis or Schneckenbecken in German). Additional findings include handlebar clavicles, a hypoplastic scapula, generalized platyspondyly with small, rounded vertebral bodies, very short long bones with relatively widened metaphyses and precociously ossified carpal and tarsal bones [Borochowitz et al., 1986; Nikkels et al., 2001].