{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T07:53:30Z","timestamp":1788335610715,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2013,5,29]],"date-time":"2013-05-29T00:00:00Z","timestamp":1369785600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro\u2010osteolysis, diffuse keloid\u2010like lesions, and ocular pterygia. Facial features are progressive but recognizable at birth. Premaxillary and maxillary retraction with pseudo\u2010prognathism and palpebral malocclusion are characteristic. Thumbs and halluces are broad and spatulated. Linear growth is increased and intellectual functions are preserved. Skin retractions and joint contractures progressively developed during adolescence. Death occurred in the second decade in one of the patient due to restrictive respiratory insufficiency and cachexia. <jats:italic>LMNA<\/jats:italic> and <jats:italic>ZMPSTE24<\/jats:italic> sequencing were normal. The molecular basis of the disorder remains unknown. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35984","type":"journal-article","created":{"date-parts":[[2013,5,29]],"date-time":"2013-05-29T16:17:01Z","timestamp":1369844221000},"page":"1786-1791","source":"Crossref","is-referenced-by-count":26,"title":["Acro\u2010osteolysis, keloid like\u2010lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type"],"prefix":"10.1002","volume":"161","author":[{"given":"Flore","family":"Zufferey","sequence":"first","affiliation":[{"name":"Universit\u00e9 Paris Descartes, D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Centre de r\u00e9f\u00e9rence Maladies osseuses constitutionnelles, AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sma\u00efl","family":"Hadj\u2010Rabia","sequence":"additional","affiliation":[{"name":"Service de Dermatologie, Centre de r\u00e9f\u00e9rence des Maladies G\u00e9n\u00e9tiques \u00e0 Expression Cutan\u00e9e INSERMU781, Universit\u00e9 Paris Descartes, H\u00f4pital Necker\u2010EnfantsMalades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annachiara","family":"De Sandre\u2010Giovannoli","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique M\u00e9dicale Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, H\u00f4pital La Timone Enfants et INSERM U910, Facult\u00e9 de M\u00e9decine Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Louis","family":"Dufier","sequence":"additional","affiliation":[{"name":"Service d'ophtalmologie Universit\u00e9 Paris Descartes, H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Leheup","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Infantile et G\u00e9n\u00e9tique Clinique P\u00f4le Enfants, CHU de Nancy et Universit\u00e9 de Lorraine Vandoeuvre les Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Schweitze","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine Infantile et G\u00e9n\u00e9tique Clinique P\u00f4le Enfants, CHU de Nancy et Universit\u00e9 de Lorraine Vandoeuvre les Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bodemer","sequence":"additional","affiliation":[{"name":"Service de Dermatologie, Centre de r\u00e9f\u00e9rence des Maladies G\u00e9n\u00e9tiques \u00e0 Expression Cutan\u00e9e INSERMU781, Universit\u00e9 Paris Descartes, H\u00f4pital Necker\u2010EnfantsMalades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Descartes, D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Centre de r\u00e9f\u00e9rence Maladies osseuses constitutionnelles, AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Descartes, D\u00e9partement de G\u00e9n\u00e9tique et INSERM U781, Centre de r\u00e9f\u00e9rence Maladies osseuses constitutionnelles, AP\u2010HP, H\u00f4pital Necker\u2010Enfants Malades Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34249"},{"key":"e_1_2_5_3_1","first-page":"263","article-title":"Pycnodysostosis. 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