Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type
Identifieur interne : 001648 ( Main/Exploration ); précédent : 001647; suivant : 001649Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type
Auteurs : Flore Zufferey [France] ; Smaïl Hadj-Rabia [France] ; Annachiara De Sandre-Giovannoli [France] ; Jean-Louis Dufier [France] ; Bruno Leheup [France] ; Cyril Schweitze [France] ; Christine Bodemer [France] ; Valérie Cormier-Daire [France] ; Martine Le Merrer [France]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2013-07.
English descriptors
- Teeft :
- American journal, Anterior fontanel, Banf1 analysis, Childhood onset, Clinical features, Connective tissue diseases, Contracture, Distal phalanges, Facial features, Fbn1 gene, Functional analysis, Genet, Genet part, Hallux, Haugen, Hereditary dystrophy, Hopital malades, Intellectual functions, Joint contractures, Keloid, Lesion, Linear growth, Mandibuloacral dysplasia, Maxillary retraction, Medical genetics part, Milder form, Molecular basis, Multiple craniosynostosis, Mutation, Ocular pterygia, Omim, Palpebral malocclusion, Penttinen, Penttinen type, Permanent teeth, Phenotype, Premature, Present patients, Progeroid, Progeroid disorder, Progeroid syndromes, Psychomotor development, Pterygium, Retraction, Second decade, Short stature, Skin lesions, Skin retractions, Syndrome, Universite paris descartes, Unrelated patients, Wiley periodicals, Wormian bones.
Abstract
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‐osteolysis, diffuse keloid‐like lesions, and ocular pterygia. Facial features are progressive but recognizable at birth. Premaxillary and maxillary retraction with pseudo‐prognathism 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. LMNA and ZMPSTE24 sequencing were normal. The molecular basis of the disorder remains unknown. © 2013 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ajmg.a.35984
Affiliations:
- France
- Grand Est, Lorraine (région), Provence-Alpes-Côte d'Azur, Île-de-France
- Marseille, Nancy, Paris, Vandœuvre-lès-Nancy
- Université Paris-Descartes, Université de Lorraine
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Le document en format XML
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Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP‐HP, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation><affiliation wicri:level="3"><country wicri:rule="url">France</country><wicri:regionArea>Correspondence to:Martine Le Merrer, MD, PhD, Département de Génétique, Hôpital Necker‐Enfants Malades, 149, rue de Sèvres, 75015 Paris</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS PART A</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">161</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1786">1786</biblScope><biblScope unit="page" to="1791">1791</biblScope><biblScope unit="page-count">6</biblScope><date type="published" when="2013-07">2013-07</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>American journal</term><term>Anterior fontanel</term><term>Banf1 analysis</term><term>Childhood onset</term><term>Clinical features</term><term>Connective tissue diseases</term><term>Contracture</term><term>Distal phalanges</term><term>Facial features</term><term>Fbn1 gene</term><term>Functional analysis</term><term>Genet</term><term>Genet part</term><term>Hallux</term><term>Haugen</term><term>Hereditary dystrophy</term><term>Hopital malades</term><term>Intellectual functions</term><term>Joint contractures</term><term>Keloid</term><term>Lesion</term><term>Linear growth</term><term>Mandibuloacral dysplasia</term><term>Maxillary retraction</term><term>Medical genetics part</term><term>Milder form</term><term>Molecular basis</term><term>Multiple craniosynostosis</term><term>Mutation</term><term>Ocular pterygia</term><term>Omim</term><term>Palpebral malocclusion</term><term>Penttinen</term><term>Penttinen type</term><term>Permanent teeth</term><term>Phenotype</term><term>Premature</term><term>Present patients</term><term>Progeroid</term><term>Progeroid disorder</term><term>Progeroid syndromes</term><term>Psychomotor development</term><term>Pterygium</term><term>Retraction</term><term>Second decade</term><term>Short stature</term><term>Skin lesions</term><term>Skin retractions</term><term>Syndrome</term><term>Universite paris descartes</term><term>Unrelated patients</term><term>Wiley periodicals</term><term>Wormian bones</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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‐osteolysis, diffuse keloid‐like lesions, and ocular pterygia. Facial features are progressive but recognizable at birth. Premaxillary and maxillary retraction with pseudo‐prognathism 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. LMNA and ZMPSTE24 sequencing were normal. The molecular basis of the disorder remains unknown. © 2013 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Grand Est</li><li>Lorraine (région)</li><li>Provence-Alpes-Côte d'Azur</li><li>Île-de-France</li></region><settlement><li>Marseille</li><li>Nancy</li><li>Paris</li><li>Vandœuvre-lès-Nancy</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université de Lorraine</li></orgName></list><tree><country name="France"><region name="Île-de-France"><name sortKey="Zufferey, Flore" sort="Zufferey, Flore" uniqKey="Zufferey F" first="Flore" last="Zufferey">Flore Zufferey</name></region><name sortKey="Bodemer, Christine" sort="Bodemer, Christine" uniqKey="Bodemer C" first="Christine" last="Bodemer">Christine Bodemer</name><name sortKey="Cormier Aire, Valerie" sort="Cormier Aire, Valerie" uniqKey="Cormier Aire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><name sortKey="De Sandre Iovannoli, Annachiara" sort="De Sandre Iovannoli, Annachiara" uniqKey="De Sandre Iovannoli A" first="Annachiara" last="De Sandre-Giovannoli">Annachiara De Sandre-Giovannoli</name><name sortKey="Dufier, Jean Ouis" sort="Dufier, Jean Ouis" uniqKey="Dufier J" first="Jean-Louis" last="Dufier">Jean-Louis Dufier</name><name sortKey="Hadj Abia, Smail" sort="Hadj Abia, Smail" uniqKey="Hadj Abia S" first="Smaïl" last="Hadj-Rabia">Smaïl Hadj-Rabia</name><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><name sortKey="Schweitze, Cyril" sort="Schweitze, Cyril" uniqKey="Schweitze C" first="Cyril" last="Schweitze">Cyril Schweitze</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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