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 CASE REPORT
Year : 2020  |  Volume : 68  |  Issue : 4  |  Page : 919--921

Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa— Report of a Case with Review of Literature


Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi, India

Correspondence Address:
Dr. Seema Kapoor
Director Professor, Department of Pediatrics, Maulana Azad Medical College, Lok Nayak Hospital, New Delhi - 110 002
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.293457

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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.






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Online since 20th March '04
Published by Wolters Kluwer - Medknow