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

Two unrelated females, age 15 and 5 years respectively, were studied cytogenetically because of severe mental retardation, seizures and ataxia-like incoordination. A similar deletion of the proximal long arm of chromosome 15 was found in both patients. Re-evaluation showed no voracious appetite or obesity; normal size of hands and feet, minimal to no hypotonia by history or examination and facial features not typical of the Prader-Willi syndrome. However, the facial appearance of the girls was similar to each other with mild hypertelorism. The similarity of these girls and dissimilarity to Prader-Willi syndrome suggest a different syndrome, perhaps the result of deletion of a different segment of 15q. The findings of ataxic-like movements, frequent, unprovoked and prolonged bouts of laughter and facial appearance are more compatible with the diagnosis of Angelman syndrome.
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PMID:Is Angelman syndrome an alternate result of del(15)(q11q13)? 368 21

Although Prader-Willi syndrome (PWS) patients usually first present with neonatal hypotonia and feeding difficulty, they later show hyperphagia, obesity and mental retardation. Since deletions of chromosomes 15q11-q13 are noted in most PWS patients cytogenetic analysis allows one to diagnose infants suspected of PWS with a greater certainty. We report on 5 hypotonic infants clinically suspected of PWS in the first 3 months of life, whose diagnosis was confirmed by cytogenetic studies showing monosomy of 15q11-q13. Early diagnosis of PWS can lead to prevention of obesity, but counseling of parents has been difficult. Although there are significant benefits to the early diagnosis of PWS, the cost-effectiveness and practicality of screening all hypotonic infants using high resolution cytogenetic analysis has been addressed systematically.
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PMID:Neonatal diagnosis of Prader-Willi syndrome and its implications. 368 23

The Cohen syndrome is an autosomal recessive disorder which is characterized by hypotonia, obesity, mental deficiency, and facial, oral and ocular anomalies. During a twelve-year period of observation, the authors' patient manifested pigmentary retinal degeneration and a bull's eye macular lesion. The Cohen syndrome must be included in the differential diagnosis of syndromes with retinitis pigmentosa.
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PMID:Cohen syndrome with bull's eye macular lesion. 370 86

We report on an 8-month-old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3----6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia. The similarity with a previously reported patient with 6q interstitial deletion is discussed.
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PMID:Distal deletion of the long arm of chromosome 6: a specific phenotype? 370 5

We report an 11-year-old boy with both the congenital ocular fibrosis and the Prader-Willi syndromes. Since birth he has had bilateral blepharoptosis and fixed ocular misalignment in downward gaze. Pathological examination of the extraocular muscles showed replacement by fibrous tissue. Additionally, the child had the typical clinical features of the Prader-Willi syndrome including mental retardation, hypotonia, short stature, hypogonadism, and obesity. The Prader-Willi syndrome has been consistently associated with interstitial deletions of the long arm of chromosome 15. Although our patient appeared to have normal chromosomes, he may indeed have an undetectable deletion which may be responsible for both syndromes. We believe that the gene(s) for the congenital ocular fibrosis syndrome may be located near the gene(s) for the Prader-Willi syndrome on the long arm of chromosome 15.
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PMID:Congenital ocular fibrosis syndrome associated with the Prader-Willi syndrome. 374 91

Prader-Willi syndrome is characterized by eating abnormalities, infantile hypotonia, obesity, mental retardation, and hypogonadism. The causation of hypogonadism varies. We describe a patient with Prader-Willi syndrome whose hypogonadism is secondary to a hypothalamic defect. Individualization of patients with this syndrome is suggested. Based on the particular hormonal abnormality identified, a treatment plan can be constructed. Cryptorchidism should be approached in the usual fashion.
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PMID:Hypogonadism in Prader-Willi syndrome. 381 Oct 99

Three adult sisters with previously unrecognized Prader-Willi syndrome (PWS) demonstrated the six diagnostic features of this congenital condition: neonatal hypotonia, hypomentia, hypogonadism, obesity, short stature, and dysmorphism. Detailed endocrine investigations were performed, including ovarian biopsy in the propositus. HLA genotype A2 was present in each patient. The normal high-resolution prometaphase karyotypes indicated heterogeneity; the absence of the deletion 15q12 frequently found in patients with sporadic PWS distinguished this sibship as representing a possible autosomal recessive type of PWS. Current evidence suggests that the diagnosis of PWS may be often overlooked. Increased clinical awareness of the features of PWS should result in prompt diagnosis and optimal management of affected patients, together with increased understanding of this enigmatic condition.
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PMID:Familial Prader-Willi syndrome. 382 55

An autopsy case of 23-years-old man with Prader-Labhart-Willi syndrome (P-L-W syndrome), who had died by acute renal failure due to burn injury, was reported. P-L-W syndrome was constituted by hypotonia, hypogonadism, hypomentia, obesity and other minor anomalies, however, CNS anomaly had not been reported. The patient sat at 3 years of age, walked at 4 years old, began to utter single words at 3-4 years, and he began to obese at 4 years of age. He fulfilled the condition of P-L-W syndrome mentioned above. On his age 15, laboratory findings on admission revealed remarkable diabetic pattern by oral glucose tolerance test and intelligence quotient was 28, and the other laboratory findings were within normal limit. During his clinical history, complications of diabetes mellitus, such as diabetic retinopathy and neuropathy, were aggrevated, and upstanding and gait were impossible at 20 years of age. On his age 23, he suffered from burn injury at left lower extremity and he fell in acute renal insufficiency. Five autopsy cases of P-L-W syndrome have been reported so far, however, CNS anomaly has not been observed. Following anomalies in our case was recognized, such as shortness of the frontal lobe, partial micropolygyria of the dentate nucleus, heterotopia of the inferior olivary nucleus, ectopia of Purkinje cell in the molecular layer, heterotopia of middle sized neuron in the deep white matter of the cerebellum and large number of residual nerve cells in the cerebral subcortical white matter.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of Prader-Labhart-Willi syndrome]. 407 78

The anaesthetic management of four paediatric patients with the Prader-Willi syndrome is reported. The syndrome is characterized by obesity, mental retardation, genital hypoplasia, hypotonia, and diabetes mellitus. All patients were anaesthetized with halothane. Succinylcholine or pancuronium were used for muscle relaxation, without evidence of abnormal response. Common anaesthetic difficulties in this syndrome are obesity, hypotonia, disturbance in thermoregulation, arrhythmias, diabetes mellitus and convulsions.
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PMID:Anaesthetic considerations in the Prader-Willi syndrome: report of four cases. 613 37

A new familial observation of Cohen syndrome in two sisters is reported. Both children exhibited the typical features of Cohen syndrome, i.e. obesity, hypotonia, mental deficiency and a dysmorphic syndrome mainly involving the facies and extremities. More accurate delineation of the nosologic limits of this syndrome is ensured by a critical review of the 17 observations published in the medical literature, which include 9 familial cases: the contribution of subsequent observations to the initial description is pointed out. Attention is drawn to the unusual course of the obesity which typically occurs after five years of age, in contrast to common obesities. Furthermore, Cohen syndrome is remarkable by the morphologic abnormalities, particularly those of the facies, which should suggest the diagnosis. As in our observation, data from the literature is in support of autosomic recessive inheritance which implies restrictive genetic counseling.
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PMID:[Cohen's syndrome in 2 sisters]. 632 7


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