Crossed polydactyly and Greig cephalopolysyndactyly syndrome.
نویسندگان
چکیده
Greig cephalopolysyndactyly syndrome is a rare genetic disorder, with an autosomal dominant inheritance and consisting of a triad of polysyndactyly, macrocephaly and hypertelorism. Crossed polydactyly is a finding characteristically associated with this syndrome. We report a one and half year old male child who presented with classic clinical features and family history diagnostic of the above syndrome.
منابع مشابه
Loss-of-Function of Gli3 in Mice Causes Abnormal Frontal Bone Morphology and Premature Synostosis of the Interfrontal Suture
Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant disorder with polydactyly and syndactyly of the limbs and a broad spectrum of craniofacial abnormalities. Craniosynostosis of the metopic suture (interfrontal suture in mice) is an important but rare feature associated with GCPS. GCPS is caused by mutations in the transcription factor GLI3, which regulates Hedgehog signaling. ...
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Acrocallosal syndrome (ACS) is characterised by postaxial polydactyly, hallux duplication, macrocephaly, and absence of the corpus callosum, usually with severe developmental delay. The condition overlaps with Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominant disorder that results from mutations in the GLI3 gene. Here we report a child with agenesis of the corpus callosum and s...
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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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Greig cephalopolysyndactyly syndrome, characterized by craniofacial and limb anomalies (GCPS; MIM 175700), previously has been demonstrated to be associated with translocations as well as point mutations affecting one allele of the zinc finger gene GLI3. In addition to GCPS, Pallister-Hall syndrome (PHS; MIM 146510) and post-axial polydactyly type A (PAP-A; MIM 174200), two other disorders of h...
متن کاملThe Greig cephalopolysyndactyly syndrome
The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and ...
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عنوان ژورنال:
- Indian pediatrics
دوره 50 10 شماره
صفحات -
تاریخ انتشار 2013