First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome.
Joint Bone Spine
; 84(1): 87-90, 2017 Jan.
Article
in En
| MEDLINE
| ID: mdl-27369646
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteosclerosis
/
Tumor Suppressor Proteins
/
Adaptor Proteins, Signal Transducing
/
Klinefelter Syndrome
Type of study:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Joint Bone Spine
Journal subject:
REUMATOLOGIA
Year:
2017
Type:
Article