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Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses.

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Prijava / prijava

BACKGROUND Heparan sulfate proteoglycans are vital components of the extracellular matrix and are essential for cellular homeostasis. Many genes are involved in modulating heparan sulfate synthesis, and when these genes are mutated, they can give rise to early-onset developmental disorders affecting

Multiple Exostoses Syndrome and Basilar Artery Aneurysm: A Case Report.

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Prijava / prijava

Hereditary multiple exostoses (HME) is an inherited genetic condition, characterized by the formation of multiple osteochondromas, developing throughout childhood and into puberty. Vascular complications associated with HME are uncommon.A case of a patient

Atypical indications for OtoScan laser-assisted myringotomy.

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Prijava / prijava

OBJECTIVE To describe the role of OtoScan laser-assisted myringotomy (OtoLAM) for indications other than chronic otitis media or recurrent acute otitis media. METHODS Cross-sectional review. METHODS Twenty-seven office-based OtoLAM procedures were performed in 21 patients for "atypical" reasons. The

Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature.

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Prijava / prijava

The proximal chromosome 11p contiguous gene deletion syndrome (P11pDS), also known as Potocki-Shaffer syndrome (PSS) or DEFECT 11 (OMIM 601224), is a disorder associated with foramina parietalia permagna and multiple osteochondroma (exostoses). Additional features include mental retardation,

Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.

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Prijava / prijava

To delineate further the clinical spectrum of Menkes disease, an X-linked recessive disorder of copper transport, we studied 4 related males, ranging in age from 4-38 years, with a unique phenotype that combines manifestations of classical and mild Menkes disease and occipital horn syndrome (OHS).

[A case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) associated with epilepsy].

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Prijava / prijava

We reported here a case of Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome (TRPS) type II) associated with epilepsy. TRPS type II is an uncommon genetic disease characterized by sparse, slowly growing scalp hair, pear-shaped nose, multiple cartilagenous exostosis and mental retardation

Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.

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Prijava / prijava

Biallelic exostosin-2 (EXT2) pathogenic variants have been described as the cause of the Seizures-Scoliosis-Macrocephaly syndrome (OMIM 616682) characterized by intellectual disability, facial dysmorphisms and seizures. More recently, it has been proposed to rename this disorder with the acronym

[Analgesia in surgery of the foot. Apropos of 1373 patients].

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Prijava / prijava

This retrospective study concerns 1,373 adult patients who underwent forefoot surgery during 1988-95 under regional anaesthesia by ankle nerve blocks (of posterior tibial nerve systematically and other nerves according to the surgical site). As a rule, plain bupivacaine 0.5% (maximum 40 mL) was

Long-term follow-up of four patients with Langer-Giedion syndrome: clinical course and complications.

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Prijava / prijava

Long-term observations of individuals with the so-called Langer-Giedion (LGS) or tricho-rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by Andres Giedion in 1969, and review the sparse publications on adults with this

Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case.

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Prijava / prijava

Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with

Brain oedema in patients with intracranial meningioma. Correlation between clinical, radiological, and histological factors and the presence and intensity of oedema.

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Prijava / prijava

The authors analysed the correlation between different clinical, radiological, and pathological variables and the presence and intensity of brain oedema associated to intracranial meningioma in 400 consecutive patients studied by computerized tomography (CT). The following factors did not show

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