| CASE REPORT |
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| Year : 2017 | Volume
: 8
| Issue : 5 | Page : 352-354 |
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Autosomal recessive cutis laxa Type II: Report of novel mutation in a child
Rakesh Kumar1, Sheetal Sharda1, Vimlesh Soni1, Kaniyappan Nambiyar2
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
 Source of Support: None, Conflict of Interest: None  | Check |
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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