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CASE REPORT
Year : 2017  |  Volume : 8  |  Issue : 5  |  Page : 352-354

Autosomal recessive cutis laxa Type II: Report of novel mutation in a child


1 Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Paediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Correspondence Address:
Rakesh Kumar
Department of Paediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/idoj.IDOJ_334_16

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Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogeneous and molecular analysis should be done to confirm the diagnosis.


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