Wrinkly skin syndrome: phenotype and additional manifestations

American Journal of Medical Genetics
A C CasamassimaF H Weiss

Abstract

The wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, multiple musculoskeletal abnormalities, microcephaly, and mental retardation. Our patient is characteristic of the syndrome as previously described, and confirms the presence of mental retardation and microcephaly as component manifestations, with the additional findings of connective tissue abnormalities evidenced by an atrial septal aneurysm.

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Citations

May 25, 1999·Pediatric Dermatology·M C BoenteR A Asial
Mar 1, 1993·Clinical Genetics·F R Kreuz, B H Wittwer
Jun 20, 2006·Pediatric Dermatology·Neerja Gupta, Shubha R Phadke
Jun 26, 2001·American Journal of Medical Genetics·L I Al-GazaliD Haas
Mar 14, 2007·American Journal of Medical Genetics. Part a·Maria Antonietta MencarelliFrancesca Mari
Mar 19, 2008·American Journal of Medical Genetics. Part a·Anna RajabS Mundlos
Oct 1, 1990·American Journal of Medical Genetics·R Gershoni-BaruchR Enat
Oct 1, 1990·Clinical Genetics·S A HurvitzR M Goodman

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