International nosology and classification of constitutional disorders of bone (2001)
CM Hall - American journal of medical genetics, 2002 - Wiley Online Library
Abstract The last International Classification of Constitutional Disorders of Bone was
published in 1998. Since then rapid advances have been made in identifying the molecular …
published in 1998. Since then rapid advances have been made in identifying the molecular …
Molecular and radiological diagnosis of sclerosing bone dysplasias
W Van Hul, F Vanhoenacker, W Balemans… - European journal of …, 2001 - Elsevier
Bone mineral density (BMD) is a quantitative trait for which the heritability of the variance is
estimated to be up to 80%, based on epidemiological and twin studies. Further illustration of …
estimated to be up to 80%, based on epidemiological and twin studies. Further illustration of …
Osteopathia striata with cranial sclerosis owing to WTX gene defect
B Perdu, F Freitas, SGM Frints… - Journal of Bone and …, 2010 - academic.oup.com
Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked dominant condition marked
by linear striations mainly affecting the metaphyseal region of the long bones and pelvis in …
by linear striations mainly affecting the metaphyseal region of the long bones and pelvis in …
WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS-CS): case report and literature review of the disease clinical, genetic and …
AM Zicari, L Tarani, D Perotti, L Papetti, F Nicita… - Italian journal of …, 2012 - Springer
Osteopathia striata with cranial sclerosis (OS-CS) or Horan-Beighton syndrome is a rare X-
linked dominant inherited bone dysplasia, characterized by longitudinal striations of long …
linked dominant inherited bone dysplasia, characterized by longitudinal striations of long …
The male phenotype in osteopathia striata congenita with cranial sclerosis
SK Holman, P Daniel, ZA Jenkins… - American Journal of …, 2011 - Wiley Online Library
Osteopathia striata with cranial sclerosis (OSCS) is an X‐linked disease caused by
truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial …
truncating mutations in WTX. Females exhibit sclerotic striations on the long bones, cranial …
Osteopathia striata cranial sclerosis: non‐random X‐inactivation suggestive of X‐linked dominant inheritance
G Viot, D Lacombe, A David, M Mathieu… - American journal of …, 2002 - Wiley Online Library
Osteopathia striata with cranial sclerosis (OS‐CS) is a rare syndrome comprising
macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The …
macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The …
Osteopathia striata with cranial sclerosis: clinical, radiological, and bone histological findings in an adolescent girl
Osteopathia striata with cranial sclerosis (OS–CS) is a rare skeletal dysplasia characterized
by linear striations of the long bones, osteosclerosis of the cranium, and extra‐skeletal …
by linear striations of the long bones, osteosclerosis of the cranium, and extra‐skeletal …
Conductive hearing loss in osteopathia striata-cranial sclerosis
L Berenholz, W Lippy, M Harrell - … —Head and Neck Surgery, 2002 - journals.sagepub.com
(CS) is a rare bone dysplasia that presents with variable symptoms mainly due to the
associated CS. Most patients present with the following clinical features related to the cranial …
associated CS. Most patients present with the following clinical features related to the cranial …
Severe osteopathia striata with cranial sclerosis in a female case with whole WTX gene deletion
SB Herman, SK Holman, SP Robertson… - American Journal of …, 2013 - Wiley Online Library
Osteopathia striata with cranial sclerosis (OSCS) is caused by truncating mutations or
deletions in the X linked gene, WTX, and is characterized by sclerotic striations of the …
deletions in the X linked gene, WTX, and is characterized by sclerotic striations of the …
Osteopathia striata with cranial sclerosis and hearing loss
K Lüerssen, M Ptok - European Archives of Oto-Rhino-Laryngology and …, 2006 - Springer
Osteopathia striata is a manifestation of several bone dysplasias. In association with cranial
sclerosis, it represents a separate entity that is not limited to the bones, but may also affect …
sclerosis, it represents a separate entity that is not limited to the bones, but may also affect …