Chitayat-Hall syndrome: Extending the clinical phenotype

RaoV.; El-AlemT.; AminuK.; MankadK.; CowanF.; HolderS.E.; KinaliM.

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Chitayat-Hall syndrome: Extending the clinical phenotype

机译：Chitayat-Hall综合征：扩展临床表型

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Ghitayat et al. (1990) reported a syndrome that causes distal arthrogryposis, mental retardation, hypopituitarism and a characteristic facial appearance in siblings. Subsequently, there have been a small number of case reports describing children with similar features and some with additional findings, suggesting that this may be a heterogeneous group rather than a single condition. We report the case of a 3-year-old girl with motor and intellectual delay, fixed flexion deformity of the wrists, hypopituitarism and skeletal abnormalities with many similarities to the original case described by Ghitayat et al (1991). Parental consanguinity supports the suggestion that Chitayat-Hall syndrome is an autosomal recessive condition.

机译：Ghitayat等。（1990）报道了一种导致远端关节变态，智力低下，垂体功能低下和兄弟姐妹特征性面部外观的综合征。随后，有少数病例报告描述了具有相似特征的儿童，有些病例还具有其他发现，这表明这可能是一个异质性群体，而不是一个单一的状况。我们报道了一个3岁女孩的运动和智力迟钝，腕部固定屈曲畸形，垂体功能低下和骨骼异常的病例，与Ghitayat等人（1991）描述的原始病例有很多相似之处。父母的血缘关系支持Chitayat-Hall综合征是常染色体隐性疾病的建议。

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《Clinical dysmorphology》 |2013年第4期|共5页
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RaoV.; El-AlemT.; AminuK.; MankadK.; CowanF.; HolderS.E.; KinaliM.;
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正文语种 eng
中图分类妇产科学;
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Chitayat-Hall syndrome: Extending the clinical phenotype

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