First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome

Mélanie Fradin; Corinne Collet; Isabelle Ract; Sylvie Odent; Pascal Guggenbuhl

doi:10.1016/j.jbspin.2016.04.012

Journal articles

First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome

Mélanie Fradin ^{1, 2} Corinne Collet ^{3, 4} Isabelle Ract ⁵ Sylvie Odent ^{1, 6, 2} Pascal Guggenbuhl ^{7, 8}

1 IGDR - Institut de Génétique et Développement de Rennes

2 CHU Pontchaillou [Rennes]

3 Service de Biochimie et de Biologie Moléculaire

4 BIOSCAR (UMR_S_1132 / U1132) - Biologie de l'Os et du Cartilage : Régulations et Ciblages Thérapeutiques

5 Service de radiologie et imagerie médicale [Rennes]

6 Service de génétique clinique [Rennes]

7 Service de rhumatologie

8 Foie, métabolismes et cancer

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.

Keywords : AMER1 Cranial sclerosis Klinefelter Osteopathia striata Osteopetrosis

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Genetics

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https://hal-univ-rennes1.archives-ouvertes.fr/hal-01439355
Contributor : Laurent Jonchère <>
Submitted on : Wednesday, January 18, 2017 - 3:33:22 PM
Last modification on : Wednesday, August 19, 2020 - 11:17:22 AM

First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome

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First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome

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