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PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities.

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We present 3 children with homozygous null variants in the PPP1R21 gene. A 3-year-old girl had profound developmental delay, hypotonia and weakness, poor feeding, recurrent chest infections and respiratory failure, rotatory nystagmus, absent reflexes, and a homozygous nonsense variant c.2089C>T

[An adult patient with 49, XXXXY syndrome: further clinical and biological delineation].

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49, XXXXY syndrome is a rare sex chromosome aneuploidy occurring in 1:80 000-1:100 000 male births. Data on this aneuploidy in adulthood are limited, with most of the literature data based on paediatric patients. We report a new male patient whose 49, XXXXY diagnosis was formally made at the age of

King-Denborough Syndrome: report of two Brazilian cases.

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We report on two boys aged 2 and 6 years-old respectively with dysmorphic face, ptosis, down-slanting palpebral fissures, hypertelorism, epicanthic folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, palmar simian line, pectus excavatum, winging of the scapulae,

Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.

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OPA1 variants most frequently manifest phenotypically with pure autosomal dominant optic atrophy (ADOA) or with ADOA plus. The most frequent abnormalities in ADOA plus in addition to the optic nerve affection include hypoacusis, migraine, myopathy, and neuropathy. Hypertelorism and atrophy of the

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

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BACKGROUND MELAS (mitochondrial myopathy, lactic acidosis and stroke-like episodes) is one of the most common mitochondrial encephalomyopathies. METHODS We present four children with A3243G MELAS mtDNA mutation and give a summary of clinical MELAS symptoms reported in the literature. Serum lactate

A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review.

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BACKGROUND Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies

Asymptomatic persistence of anti-Yo antibodies for 5 years without relapse of malignancy.

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Neurological paraneoplastic syndromes (NPS) are rare disorders in association with malignancy and the presence of various antineuronal antibodies. The persistence of antineuronal antibodies for years after the eradication of the tumor without clinical manifestations of a NPS has not been reported.

Severe hypokalemic paralysis as a manifestation of a mitochondrial disorder.

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Mitochondrial disorder (MtD) is usually a multisystem disease due to impaired mitochondrial energy production. Severe hypokalemia resulting in muscle weakness and rhabdomyolysis has not been reported as a phenotypic feature of MtD. Here we describe a 60-year-old male patient who developed myalgias

[A case of deletion of the short arm of chromosome 18 associated with chronic polymyositis].

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A case of deletion of the short arm of chromosome 18 (18p- syndrome) associated with chronic polymyositis is described. The patient was a 37-year-old woman, who had psychomotor retardation in her early childhood. She started to notice a difficulty in raising both arms at 14 years of age and

Hypokalemic periodic paralysis, facial dysmorphism and ventricular arrhythmia (clinical triad of Andersen-Tawil syndrome).

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Andersen-Tawil Syndrome (ATS) is a rare potassium channel disorder, characterized by episodic weakness, ventricular arrhythmias and dysmorphic features (short stature, scoliosis, clinodactyly, hypertelorism, small or prominent low set ears, micrognathia and broad forehead). We report a case of

Atrial septal defect associated with Albright's hereditary osteodystrophy and other anomalies: a clinical case.

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A 36 year-old woman with a history of asthenia and palpitations was admitted to the Cardiac Surgery Department of Tor Vergata University, in Rome. Physical examination revealed short stature, depressed nasal bridge, hypertelorism, hypoacusia, pectus excavatum, diffuse brachydactyly, clinodactyly of

Strabismus in craniofacial dysostosis.

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Ten infants and children who presented with craniofacial dysostosis are discussed; four had Apert's syndrome, four had Crouzon's syndrome, one had Pfeiffer's syndrome, and one had hypertelorism. The follow-up of the patients ranged from 3 months to 7 years, with an average of 19 months. Patients had

Short stature, digit anomalies and dysmorphic facial features are associated with the duplication of miR-17 ~ 92 cluster.

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MicroRNAs (miRNAs) are key regulators of gene expression, playing important roles in development, homeostasis, and disease. Recent experimental evidence indicates that mutation or deregulation of the MIR17HG gene (miR-17 ~ 92 cluster) contributes to the pathogenesis of a variety of human diseases,

New insights in the pathogenesis of aortic aneurysms.

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Aortic aneurysms are an important cause of mortality in the western world. Monogenic disorders such as the Marfan syndrome (MFS) are good genetic models for the pathogenesis of aortic aneurysm. In the MFS, progressive dilatation of the aortic root leads to aortic aneurysm and dissection, often

Thyrotoxic Periodic Paralysis With Features of Andersen-Tawil Syndrome: A Case Report and Literature Review

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Thyrotoxic periodic paralysis (TPP) is a rare manifestation of hyperthyroidism. The pathophysiology of hyperthyroidism causing periodic paralysis involves the Na+/K+ ATPase and potassium channels. We present a case of a 30-year-old male who presented to the ED with acute onset of upper and lower

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