Complete situs inversus and broad thumbs and big toes with postaxial polydactyly.
نویسندگان
چکیده
A healthy, non-consanguineous couple had a son with complete situs inversus viscerum (including dextrocardia but without other cardiac defects), broad thumbs and big toes, postaxial polydactyly, average intelligence and length proportion of the extremities, and a normal face. The common cause of these defects may have a role in the origin of sidedness and symmetry in morphogenesis.
منابع مشابه
A novel frameshift mutation of the GLI3 gene in a family with broad thumbs with/without big toes, postaxial polydactyly and variable syndactyly of the hands/feet.
To the Editor : Mutations of the GLI3 gene lead to a wide variety of phenotypes such as Greig cephalopolysyndactyly (GCPS), Pallister–Hall syndrome (PHS), postaxial polydactyly (PAP) types A/B, and preaxial polysyndactyly (PPD) type IV (1–7). The main clinical features of these phenotypes are summarized in Table 1. The GLI3 protein may be divided into three parts (Fig. 1). The part towards the ...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 34 12 شماره
صفحات -
تاریخ انتشار 1997