hypopigmentation/aptaukošanās

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Hypomelanosis of Ito: a case report with clinical and ultrastructural data.

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Ielogoties Reģistrēties

Hypomelanosis of Ito (HI) is an uncommon skin disorder characterized by the presence of hypochromic areas associated with visceral abnormalities, the most common being neurological, muscular, skeletal and ocular. The authors describe a typical case of hypomelanosis of Ito in a 7-year-old child. The

AMINO ACID LEVELS IN PRADER-WILLI SYNDROME AND OBESE INDIVIDUALS.

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Ielogoties Reģistrēties

To determine if certain features (e.g., hypopigmentation) seen in persons with Prader-Willi syndrome (PWS) may be reflected in abnormalities of amino acid metabolism, fasting plasma amino acid levels were measured from 25 patients and compared with those in 17 obese individuals. Thirteen of the

Obesity in Childhood and Adolescence, Genetic Factors.

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Ielogoties Reģistrēties

Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Childhood obesity is also widespread in

[Self-induced cutaneous lesions in Prader-Willi syndrome].

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Ielogoties Reģistrēties

BACKGROUND The Prader-Labhart-Willi syndrome was first described in 1956. Prader-Labhart-Willi syndrome is the most common genetic form of human obesity and the incidence of Prader-Labhart-Willi syndrome has been estimated to 1 in 10,000 or 25,000 live births. Skin-picking was frequently reported in

Encephalotrigeminal angiomatosis.

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Ielogoties Reģistrēties

We report an unusual case of encephalotrigeminal angiomatosis in which the facial and oral angioma was bilateral, and several teeth were congenitally absent. The developmental nature of the anomaly is reviewed. Encephalotrigeminal angiomatosis is commonly referred to as the Sturge-Weber syndrome,

Prader-Willi syndrome: clinical and molecular cytogenetic investigations.

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Ielogoties Reģistrēties

Prader-Willi syndrome is characterized by hypotonia and feeding difficulties in the neonatal period, with the childhood development of hyperphagia leading to obesity, developmental delay, hypogonadism, short stature and small hands and feet. Correct diagnosis of Prader-Willi syndrome is important

Duplication of proximal 15q as a cause of Prader-Willi syndrome.

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Ielogoties Reģistrēties

We describe an apparent duplication of proximal 15q, i.e., 15q11q12 or 15q12q13 in two patients. Prometaphase chromosome analysis, C-banding and distamycin A/DAPI staining were used to exclude a translocation between the abnormal 15 homolog and another chromosome. The 2 patients have many

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

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Ielogoties Reģistrēties

Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in

Angelman syndrome assessed by neurological and molecular cytogenetic investigations.

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Ielogoties Reģistrēties

Angelman syndrome (AS) is characterized by severe psychomotor retardation, speech impairment, happy disposition with bursts of laughter, ataxia, convulsions, and some distinct physical anomalies. Correct diagnosis of AS is important because of its clinical implications, and once the disease is

[Prader-Willi syndrome associated with chromosomal aberration: report of a case].

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Ielogoties Reģistrēties

A male case of Prader-Willi syndrome (2.8 years in age) with an interstitial deletion of a chromosome affecting 15q 11-12 region is reported. The chief complaints were hypoplastic scrotum and defect of bilateral scrotal content. The clinical features were short stature, obesity, delayed mental

[Hypotonic infants and the Prader-Willi Syndrome]

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Ielogoties Reģistrēties

OBJECTIVE: To describe 6 patients with less than 3 years of age that were diagnosed with Prader-Willi syndrome (PWS) due to hypotonia, poor sucking, slight facial anomalies and minor abnormalities of hands and feet. PWS is a neurobehavioural disorder characterized by two distinct phases; in the

Ocular findings in a patient with Prader-Willi syndrome.

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Ielogoties Reģistrēties

A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, intellectual impairment, dysmorphic facial features, short stature, small hands and feet, and abnormal dentition, which are typical of the Prader-Willi syndrome. The patient had

Delayed diagnosis of proopiomelanocortin (POMC) deficiency with type 1 diabetes in a 9-year-old girl and her infant sibling.

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Ielogoties Reģistrēties

BACKGROUND Proopiomelanocortin (POMC) protein, encoded by the POMC gene, is the precursor of adrenocorticotropic hormone (ACTH) that is released from the anterior pituitary gland. Homozygous mutations in the POMC gene is associated with hyperphagia, severe and early-onset obesity, adrenal

Common hyperpigmentation disorders in adults: Part II. Melanoma, seborrheic keratoses, acanthosis nigricans, melasma, diabetic dermopathy, tinea versicolor, and postinflammatory hyperpigmentation.

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Ielogoties Reģistrēties

Nevi, or moles, are localized nevocytic tumors. The American Cancer Society's "ABCD" rules are useful for differentiating a benign nevus from malignant melanoma. While acanthosis nigricans may signal an underlying malignancy (e.g., gastrointestinal tumor), it more often is associated with insulin

Prader-Willi syndrome.

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Ielogoties Reģistrēties

BACKGROUND First described in 1956, Prader-Willi syndrome is a neurogenetic condition characterized by infantile hypotonia, hypogonadism and obesity. Mental deficiency, behavioral abnormalities, and obvious dysmorphic features are frequently found as well. It is a relatively common condition, with

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