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Joint Bone Spine
Volume 84, n° 1
pages 87-90 (janvier 2017)
Doi : 10.1016/j.jbspin.2016.04.012
accepted : 21 April 2016
First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome

Melanie Fradin a, b, , Corinne Collet c, Isabelle Ract d, Sylvie Odent a, b, e, Pascal Guggenbuhl b, e, f, g
a 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 
b Centre de compétences des maladies osseuses constitutionnelles, CHU de Rennes, 35203 Rennes, France 
c 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 
d Service de radiologie, CHU de Rennes, 35203 Rennes France 
e Faculté de médecine, université de Rennes 1, 35043 Rennes, France 
f Service de rhumatologie, CHU de Rennes, 35203 Rennes, France 
g Inserm UMR991, 35000 Rennes, France 

Corresponding author. 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.

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.

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Keywords : Osteopathia striata, Cranial sclerosis, Klinefelter, Osteopetrosis, AMER1

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