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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

During the course of a clinical study of Sotos syndrome, six out of 79 probands failed to fit the phenotype of Sotos syndrome but showed remarkable similarities to each other and to a further 11 first- and second-degree relatives. Clinical features in these index cases included macrocephaly, greater than +3.5 SD; normal or near normal birth weight and length with subsequent relative obesity; variable developmental delay; and typical face, characterised by a square outline with frontal bossing, a "dished-out" mid-face, biparietal narrowing, and long philtrum. All recorded bone ages were less than the 75th centile, and two were below the 10th centile. The authors believe the original diagnosis was incorrect and that these cases likely represent a previously undescribed autosomal dominant macrocephaly syndrome.
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PMID:Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome? 171 11

Prader-Labhart-Willi Syndrome is a complex, multisystem sporadic disorder which presents during childhood and proceeds into adulthood. The major features include infantile hypotonia, developmental delay, hypogonadism with abnormal sexual maturation, mental retardation and behavior abnormalities, short stature with small hands and feet, massive obesity with diabetes mellitus, dysmorphic facial features, and marked dental caries and enamel hypoplasia. Recently, a deletion of chromosome 15 has been found in a large percentage of these patients, but the exact cause and genetic transmission has not yet been determined. Two cases of Prader-Labhart-Willi Syndrome are presented with emphasis on the differential diagnosis of enamel hypoplasia associated with sexual maturation.
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PMID:Prader-Labhart-Willi syndrome. 227 77

The Prader-Willi syndrome consists of infantile hypotonia, failure to thrive, hypogonadism and developmental delay. It was first described in 1956. Later in life hypotonia improves. Between the age of two and four obesity becomes noticeable and between six and ten there is uncontrollable behaviour. A survey has been carried out of the 36 known cases in New Zealand and the pattern of the disease is similar to that elsewhere. In most cases the diagnosis was not established until between the ages of six and 10 when the obesity was marked and uncontrolled behaviour a problem. Early control of the obesity is helpful.
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PMID:Prader-Willi syndrome in New Zealand: a survey of 36 affected people. 231 43

The prevalence of obesity in U.S. children is rising. Etiologic studies have focused on infants and school age children but little is known about obesity in early childhood. To study the development of childhood obesity and its medical correlates, the authors reviewed 175 charts of obese children seen in a nutrition clinic. The 61 study subjects (37% of charts reviewed) had growth records for ages 7 years and less and were without developmental delay syndromes. Thirty-nine (64%) of 61, were girls; ages at presentation were 1 to 14 years. Data collection included previous and presenting weights, heights, medical problems, and evidence of parental and sibling obesity. Study subjects' mean percent of ideal body weight for height (% IBWH) at presentation was 160 percent. Many study subjects had medical problems considered to be related to obesity: 30 percent had asthma, 25 percent elevated blood pressure, and 28 percent hyperlipidemia. Thirty (63%) of 48, study subjects with data on maternal weight and height, had obese mothers and 14 (31%) of 45 had obese fathers. Fourteen (50%) of 28 had one or more obese siblings. Among all study subjects, the proportion of obese (% IBWH greater than 120%) and severely obese children (% IBWH greater than 140%) increased between ages 1 and 7 years. For example, the proportion greater than 140% IBWH was zero percent at 1 year and 3 years; 0.1 at 2 years; 0.2 at 4 years; 0.5 at 5 to 6 years; and 0.6 at 7 years.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Childhood obesity. Medical and familial correlates and age of onset. 237 93

A 3-year-old boy presented with decreased renal function, hypertension, obesity and developmental delay. Evaluation of his kidneys revealed blunting of the calyces and multiple renal cortical cysts. Ophthalmologic evaluation showed no abnormalities on examination but electroretinography showed reduced retinal function suggesting a diffuse retinal disorder. Based on the clinical presentation with the associated abnormalities, the diagnosis of Bardet-Biedl syndrome, a form of the Laurence-Moon-Biedl syndrome was made. This syndrome should be considered and specific diagnostic efforts should be made in pediatric patients who present with renal failure and obesity.
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PMID:Early diagnosis of Bardet-Biedl syndrome. 240 Jun 55

We describe a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader-Willi syndrome, and is likely inherited as an X-linked recessive trait. Preliminary studies with DNA probes are consistent with an X-linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation.
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PMID:Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. 323 63

Deletions, duplications, and rearrangements of the long arm of chromosome 15 are frequently associated with the clinical diagnosis of the Prader-Willi syndrome. However, a number of other clinical entities have also been associated with similar, if not identical, cytogenetic defects, arguing for clinical heterogeneity associated with abnormalities in this region of chromosome 15. We present 3 patients who all appear to have deletions in 15q11-15q12, such as described for many patients with Prader-Willi syndrome; however, none of these patients has classical clinical features of the Prader-Willi syndrome. The first patient is a child with Williams syndrome, the second, Angelman (Happy Puppet) syndrome, and the third is a child with hypotonia of infancy, obesity, and developmental delay, but who does not meet specific diagnostic criteria for the Prader-Willi syndrome. It is proposed that different molecular abnormalities involving specific points or segments along the long arm of chromosome 15 might account for the clinical diversity seen among these and other patients.
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PMID:Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. 367 17

We report the case of a 9-year-old girl with multiple problems due to hypothalamic dysfunction of obscure origin: apnoeic spells, behavioural problems, developmental delay, hypodipsia with bouts of hypernatraemia, episodes of spontaneous hypothermia, obesity, petit-mal seizures, non-progressive precocious puberty, absence of respiratory response to CO2 and probably insensitivity of hyposensitivity to pain. She also had hyperprolactinaemia and decreased human growth hormone secretion. Hypothyroidism of central origin and hyposecretion of cortisol were also present. Multiple brain CT-scans failed to reveal any tumour or other anatomical abnormality. Her clinical course was improved initially by treatment with clomipramine, but she died suddenly, and the autopsy failed to disclose any anatomical lesion. We compare this case with three similar previously reported cases.
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PMID:Hypothalamic dysfunction in a child: a distinct syndrome? Report of a case and review of the literature. 768 46

Characteristics are hypotonia, problems with feeding and thriving in the neonate and infant, later hyperphagia and severe obesity. Other findings are dysmorphic traits, hypogonadism, short stature, developmental delay, mental retardation and behavioural problems. Diabetes mellitus (NIDDM) is frequent in adults. Treatment is symptomatic. Prognosis is determined by obesity. PWS occurs almost always sporadically and is found in all ethnic groups and in both sexes. The epidemiology of PWS in Denmark is unknown. In 95% of cases with PWS cytogenetic and molecular genetic investigations show either deletion of the paternal chromosome 15q11q13 or uniparental maternal disomy of chromosome 15. Since 1992 150 bloodsamples of patients suspected for PWS have been investigated by cytogenetic and molecular genetic techniques at the John F. Kennedy Institute, DK-2600 Glostrup; deletion of the paternal chromosome 15 was found in 15 and uniparental maternal disomy of chromosome 15 in eight cases.
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PMID:[Prader-Willi syndrome--clinical picture and genetics]. 772 49

The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.
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PMID:Cerebral malformations in Carpenter syndrome. 835 58


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