Osteopathia striata with sclerosis and thickening of the skull

Paling, Michael R.; Hyde, I.; Dennis, N R

doi:10.1259/0007-1285-54-640-344

Cited by 21 publications

(9 citation statements)

References 7 publications

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“…*Bass et al, 1980;Bloor, 1954;de Boer and van Gool, 1974;Clement et al, 1982;Clementi et al, 1993;Cortina et al, 1981;Currarino and Friedmann, 1986;Culver and Thumasathit, 1972;Franklyn and Wilkinson, 1978;Gay et al, 1994;Goodmann and Robertson, 1993;Hoeffel and Merle, 1990;Horan and Beighton, 1978;Hurt, 1953;Jones and Mulcahy, 1968;de Keyser et al, 1983;Kornreich et al, 1988;Nakamura et al, 1985;Odrezin and Krasikov, 1993;Paling et al, 1981;Piechowiak et al, 1986;Robinow and Unger, 1984;Sevaux and Galmiche, 1970;Schnyder, 1980;Taybi and Nurock, 1969;Walker, 1969;Winter et al, 1980; own cases 11-2, 111-1,111-2, IV-1, and IV-2.…”

Section: Discussionmentioning

confidence: 99%

Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree

König¹,

Dukiet²,

Dörries³

et al. 1996

Am. J. Med. Genet.

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Osteopathia striata is a manifestation of several bone dysplasias. In association with cranial sclerosis it represents a separate entity, which is not limited to the bones but may affect other structures, leading to abnormal face, cleft palate, deafness, heart defects, and vertebral anomalies. Neurological findings range from normal development to marked retardation with hydrocephalus, cranial nerve deficiencies and deafness. Ten families, including our own, clearly demonstrate autosomal dominant inheritance with female preponderance and great inter‐ and intrafamilial variability. © 1996 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree

König¹,

Dukiet²,

Dörries³

et al. 1996

Am. J. Med. Genet.

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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%

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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“…However, the clinical pattern of partial involvement, as well as the reported family observations pleads for X-linked inheritance with mild striated bone affections to carrier women and severe syndromic morbidity and high mortality to the males [1,17]. Descriptions of biochemical findings and biopsy changes in patients having osteopathia striata with cranial sclerosis are scarce [6,12,15].…”

Section: Discussionmentioning

confidence: 99%

Temporal Bone CT Findings in a Male Patient with Osteopathia Striata and Cranial Sclerosis

Bisdas

Becker

2003

Klinische Neuroradiologie

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Case Report: The authors present a case of a congenital overlap syndrome (coexistence of two or more sclerosing bone dysplasias), affecting the long bones, skull and other major systems of a 3 1 / 2 -year-old boy. The patient was hospitalized due to an acute peripheral facial paresis. The temporal bone CT showed a cranial sclerosis, narrowed Eustachian canal as well as narrowed external and internal auditory canals, abnormal ossicle fixation and significant small mastoid antrum and tympanic cavity bilateral. The essential reformation of the CT scans confirmed the constriction of the facial nerve canal which explained the facial nerve paresis. The CT of the temporal bone proved to be the elective technique for the differential diagnosis of hearing loss and peripheral facial paresis in cases of osteopathia striata and cranial sclerosis, something that could theoretically and actually lead to the initial or final diagnosis of this disease. ZusammenfassungFallbeschreibung: Die Autoren stellen einen 3 1 / 2 Jahre alten männlichen Patienten mit kongenitalem Overlap-Syndrom (Koexistenz von zwei oder mehr sklerosierenden Knochendysplasien) vor, die langen Röhrenknochen, den Schädel und andere Organe betreffend. Die Aufnahme des Patienten erfolgte nach akutem Beginn einer peripheren Fazialisparese. Die Felsenbein-CT-Untersuchung ergab eine Schädelsklerosierung, verengte Tubae auditivae sowie verengte äußere und innere Gehörgänge, pathologische Ossikelfixierung und ein erheblich eingeengtes Antrum mastoideum und Cavum tympani. CTReformationen bestätigten die Verengung des Fazialiskanals, wodurch die Fazialisparese verursacht wurde. Die CT ist Methode der Wahl zur Abklärung der Hörstörungen und der peripheren Fazialisparese bei Osteopathia striata mit kranialer Sklerose.Schlüsselwörter: Overlap-Syndrom · Sklerosierende Knochendysplasie · Osteopathia striata · Kraniale Sklerose · Computertomographie · Felsenbein · Nervus facialis

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Osteopathia striata with sclerosis and thickening of the skull

Cited by 21 publications

References 7 publications

Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree

Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree

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

Temporal Bone CT Findings in a Male Patient with Osteopathia Striata and Cranial Sclerosis

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