Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature
Cutis laxa is a set of genetically heterogeneous conditions with phenotypes ranging from progeria-like appearance, corneal clouding, clenched fingers with marked retardation of growth both pre and postnatal growth to very mild phenotypes with skin laxity becoming evident in 2nd or 3rd decade. A chil...
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| Veröffentlicht in: | Neurology India 2020-07, Vol.68 (4), p.919-921 |
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| creator | Vats, Pallavi Polipalli, Sunil Yuvaraj, P Kapoor, Seema |
| description | Cutis laxa is a set of genetically heterogeneous conditions with phenotypes ranging from progeria-like appearance, corneal clouding, clenched fingers with marked retardation of growth both pre and postnatal growth to very mild phenotypes with skin laxity becoming evident in 2nd or 3rd decade. A child who presents with predominant motor delay is written off with a clinical diagnosis of rickets in the absence of any clinical sign of lax skin. Here, we report a 2-year-old child who presented with motor delay and joint hyperlaxity. Mutation analysis demonstrated a heterozygous mutationc.G1867A in the exon 15 of ALDH18A1 gene known to cause autosomal dominant cutis laxa. |
| doi_str_mv | 10.4103/0028-3886.293457 |
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| source | EZB-FREE-00999 freely available EZB journals |
| subjects | Life Sciences & Biomedicine Neurosciences Neurosciences & Neurology Science & Technology Skin |
| title | Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature |
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