Osteopathia striata with cranial sclerosis

Keyser, Jacques De; Bruyland, M.; Grève, Jacques De; Leemans, J.; Potvliege, R. M.; Six, Roland; Ebinger, Guy

doi:10.1016/0303-8467(83)90022-7

Cited by 21 publications

(14 citation statements)

References 11 publications

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“…Facial dysmorphisms include macrocephaly (43%) [2,11-17,19,20,27-32,34,36-39], frontal and occipital bossing (32%) [2,11-15,17,19-21,30-33,36], mandible overgrowth with protuberance of the jaw and dental malocclusion (12%) [2,11,14,23] (giving a leonine appearance), ocular hypertelorism [6,8,10,14,19,20,23,27,29-31,38-40], down-slanting palpebral fissures [19,28,31], low set broad nasal bridge (29%) [1,2,6,8,12,14,15,17,18,20,23,30-32,37,38,41,42], narrow high-arched or cleft palate (Pierre Robin’s triad) (12%) [2,6,8,14-16,19,21,30,31,35] and low set dysplastic ears (9%) [6,12,19,20,29-31,33,39,42]. …”

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

“…Longitudinal striations can be typically demonstrated in long bones (73%), less frequently in pelvis (fan-like striations) (19%)[1,2,6,8,10-15,17-22,24-26,28-32,34-38,40,42], vertebrae and ribs, and can be associated to diffuse osteosclerosis (35%) [3,21,25,26,28-32,34,36,43]. Patients can also present thoracic and vertebral anomalies (2%) [8,13,14,19-21,28-32,35,42], digital flection contractures, phalangeal duplication, syndactyly, short or absent fibula, club feet (3%) [8,10,14,16,17,20,28-31,35,36,38,40].…”

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

“…Patients can also present thoracic and vertebral anomalies (2%) [8,13,14,19-21,28-32,35,42], digital flection contractures, phalangeal duplication, syndactyly, short or absent fibula, club feet (3%) [8,10,14,16,17,20,28-31,35,36,38,40]. …”

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

“…Hearing loss (conductive or mixed type) is the most common neurological manifestation (46%) [1,2,6,8,11,14,16,17,19-23,27,28,30,31,33-38,40,41,43], resulting from narrowing of external auditory canal, impaired mobility of middle ear ossicles, damage to the inner ear or auditory nerve entrapment. Narrowed nerves’ canals and foramina are responsible for nerve encroachment and palsies [1,14,17,19,20,30,31,37-39,41,42].…”

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

“…Narrowed nerves’ canals and foramina are responsible for nerve encroachment and palsies [1,14,17,19,20,30,31,37-39,41,42]. A minority of patients presents intellectual impairment associated to defects of the central nervous system (i.e.…”

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

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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 radiological features

et al. 2012

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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 bones and cranial sclerosis. Patients can be asymptomatic or present with typical facial dysmorphism, sensory defects, internal organs anomalies, growth and mental retardation, depending on the severity of the disease. WTX gene (Xq11) has been recently identified as the disease causing gene. Aim of this article is to present the case of a 6 year old girl initially evaluated for bilateral hearing loss. Patient’s head CT scan pointed out sclerosis of skull base and mastoid cells, and abnormal middle-ear ossification. Clinical examination of the patient and her mother were suspicious for OS-CS. The diagnosis was confirmed by X-rays examination showing typical longitudinal striation. Genetic analysis allowed the identification of maternally transmitted heterozygous nonsense c.1057C>T (p.R353X) WTX gene mutation. We also provide a systematic review of currently available knowledge about clinical, radiologic and genetic features typical of the OS-CS.

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Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

Section: Clinical and Radiological Features (Additional File 1)mentioning

confidence: 99%

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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 radiological features

et al. 2012

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Osteopathia striata cranial sclerosis: Non‐random X‐inactivation suggestive of X‐linked dominant inheritance

et al. 2002

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Osteopathia striata with cranial sclerosis (OS-CS) is a rare syndrome comprising macrocephaly, minor anomalies, conductive hearing loss, and mild mental retardation. The diagnosis is based on radiological findings, including cranial sclerosis and longitudinal striations of metaphyses of long bones. Here we report on 10 new cases of OS-CS, including two sporadic cases and three families, with an excess of affected females (9F/1M). Phenotypic variability was observed in our patients as well as several unusual findings. Hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, and laryngotracheomalacia were associated with a poor prognosis. The X-inactivation pattern of peripheral blood lymphocytes in a mildly affected mother and her severely affected boy demonstrated a non-random X-inactivation in the mother. This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance.

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Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

Clementi

Bellato²,

Rossetti

et al. 1993

Am. J. Med. Genet.

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Osteopathia striata with cranial sclerosis

Cited by 21 publications

References 11 publications

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 radiological features

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 radiological features

Osteopathia striata cranial sclerosis: Non‐random X‐inactivation suggestive of X‐linked dominant inheritance

Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?

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