title: First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.
abstract: Osteopathia striata with cranial sclerosis is a rare X-linked disorder. It is often lethal in male patients, and is considered X-linked dominant since affected females exhibit clinical signs, although milder than males. We describe here an adult male patient, with clinical and radiological signs similar to those described in female patients. Diagnosis was confirmed by the identification of an AMER1 mutation. The presence of long bones striation and the clinical phenotype of the patient also led to the diagnosis of non-mosaic Klinefelter syndrome, probably explaining the non-lethal and even rather minor phenotype compared to the rare affected males already described.
authors.affiliation: Service de génétique clinique, centre de référence des anomalies du développement de l'Ouest, hôpital Sud de Rennes, CHU de Rennes, 16, boulevard de Bulgarie, 35203 Rennes, France; Centre de compétences des maladies osseuses constitutionnelles, CHU de Rennes, 35203 Rennes, France. Electronic address: melanie.fradin@chu-rennes.fr.
authors.forename: Melanie
authors.initials: M
authors.lastname: Fradin
authors.affiliation: UF de génétique moléculaire, service de biochimie et biologie moléculaire, Inserm UMR1132 biologie de l'os et du cartilage, hôpital Lariboisière, 2, rue Ambroise-Paré, 75475 Paris cedex 10, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Collet
authors.affiliation: Service de radiologie, CHU de Rennes, 35203 Rennes France.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Ract
authors.affiliation: Service de génétique clinique, centre de référence des anomalies du développement de l'Ouest, hôpital Sud de Rennes, CHU de Rennes, 16, boulevard de Bulgarie, 35203 Rennes, France; Centre de compétences des maladies osseuses constitutionnelles, CHU de Rennes, 35203 Rennes, France; Faculté de médecine, université de Rennes 1, 35043 Rennes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.affiliation: Centre de compétences des maladies osseuses constitutionnelles, CHU de Rennes, 35203 Rennes, France; Faculté de médecine, université de Rennes 1, 35043 Rennes, France; Service de rhumatologie, CHU de Rennes, 35203 Rennes, France; Inserm UMR991, 35000 Rennes, France.
authors.forename: Pascal
authors.initials: P
authors.lastname: Guggenbuhl
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000328:Adult; D020022:Genetic Predisposition to Disease; D006801:Humans; D007713:Klinefelter Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D010026:Osteosclerosis / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D011859:Radiography / Q000379:methods; D035583:Rare Diseases; D018570:Risk Assessment; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: C517118:AMER1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D025521:Tumor Suppressor Proteins
keywords: AMER1; Cranial sclerosis; Klinefelter; Osteopathia striata; Osteopetrosis