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Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

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Background: A large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and

Corneal Biomechanical Properties in Childhood Obesity.

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To investigate corneal biomechanical properties in patients with childhood obesity.The study included 47 patients with childhood obesity (study group) and 39 healthy patients (control group). Corneal hysteresis, corneal resistance factor, corneal

Familial juvenile autoimmune hypothyroidism, pituitary enlargement, obesity, and insulin resistance.

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The proband, a 9-year-old Hispanic female, presented with hair loss, strabismus, and weight gain. On magnetic resonance imaging (MRI) she was found to have severe primary hypothyroidism and a large pituitary mass. In addition, acanthosis nigricans, obesity, and hyperinsulinism were observed.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD): a case with additional features and review of the literature.

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A rare syndrome of rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) has been recently described. We report the first patient with this syndrome in Southeast Asia and review reported cases to date. Our patient was good health with normal

A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability.

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The genetic background of severe early-onset obesity is still incompletely understood. Deletions at 2p25.3 associate with early-onset obesity and variable intellectual disability. Myelin-transcriptor-factor-1-like (MYT1L) gene in this locus has been proposed a candidate gene for obesity. We report

Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?

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A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and

General and stomatologic aspects of bardet-biedl syndrome.

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OBJECTIVE The purpose of this study is to present a clinical report of a patient with Bardet-Biedl syndrome, aiming to help the dentist to identify the general aspects, systemic changes, alterations. METHODS Bardet-Biedl syndrome is defined as a genetic disorder of autosomal recessive condition;

Body mass index and binocular vision skills.

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BACKGROUND Body Mass Index (BMI) is of increasing interest to eye care practitioners. Associations have recently been proven between high BMI and several diseases affecting the eyes, including AMD, intracranial hypertension, optic disc cupping, and glaucoma. The symptoms of dizziness and vertigo

The relationship of body fatness indices and retinal vascular caliber in children.

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OBJECTIVE To examine the association between body fatness indices and retinal vascular calibre in Singapore Chinese children. METHODS We recruited 136 Singapore Chinese children aged 6-16 years from the STARS (The Strabismus, Amblyopia and Refractive Error Study in Singaporean Chinese Preschoolers)

Prader-Willi Syndrome

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Prader Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neurologic systems, with behavior and intellectual difficulties. PWS is mainly characterized by severe hypotonia with feeding difficulties in the first years of life. Global

[Usefulness of physical examination at school].

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OBJECTIVE To evaluate the utility of school health examinations performed at four years of age. METHODS Evaluation of the results of school health examinations performed on 5,709 children are presented, with the follow up of selected problems found (overweight, growth failure, strabismus, reduced

Benefits of FK 506 for refractory eye symptoms in a young child with ocular myasthenia gravis.

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Recently, there have been many reports on the efficacy and safety of tacrolimus (FK506) treatment for adult patients with intractable generalized myasthenia gravis (MG). There have also been a few reports of successful FK506 therapy in patients with severe childhood-onset generalized MG involving a

Simple detection of genomic microdeletions and microduplications using QMPSF in patients with idiopathic mental retardation.

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In contrast to the numerous well-known microdeletion syndromes, only a few microduplications have been described, and this discrepancy may be due in part to methodological bias. In order to facilitate the detection of genomic microdeletions and microduplications, we developed a new assay based on

Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.

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Interstitial deletions of chromosome band 4q32 are rare. We report on a 22-year-old female patient with a de novo interstitial deletion of chromosome 4q32 and a balanced translocation t(2;5)(p21;q12.1). Clinical problems of the patient comprised mild to moderate mental retardation, psychosis,

Monopharmacologic general anaesthesia with sevoflurane in paediatric patient with Prader-Willi syndrome.

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Prader-Willi syndrome (PWS) is a genetic disease caused by a loss of paternal genes located in chromosome 15. Children affected by this syndrome often have preterm delivery; during childhood the hallmarks are: severe infantile hypotonia and feeding problems. Afterward, neurologic manifestations,

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