| Title | Wrinkly skin syndrome: phenotype and additional manifestations. | | Author(s) | Casamassima AC, Wesson SK, Conlon CJ, Weiss FH | | Institution | Department of Pediatrics, New York Medical College, Valhalla. | | Source | Am J Med Genet 1987 Aug; 27(4):885-93. | | MeSH | Abnormalities, Multiple
Child
Elastic Tissue
Female
Heart Septal Defects, Atrial
Humans
Mental Retardation
Microcephaly
Phenotype
Skin
Skin Abnormalities
Syndrome
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
Review
| | PubMed ID | 3321993 |
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