Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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

Prader-Willi syndrome (PWS) is characterized by hypotonia, obesity, hypogonadism, short stature, small hands and feet, mental deficiency, a characteristic face, and an interstitial deletion of the proximal long arm of chromosome 15 in about one-half of the patients. The incidence is estimated to be about 1 in 25,000, and PWS is the most common syndromal cause of human obesity. DNA abnormalities, usually deletions or duplications of chromosome 15, have been identified in individuals with PWS with or without recognizable chromosome 15 deletions. Paternal origin of the chromosome 15 deletion by cytogenetic and DNA studies has been found in nearly all PWS individuals studied. No cytogenetic evidence for chromosome breakage has been identified, although an environmental cause (e.g., paternal hydrocarbon-exposed occupations) of the chromosome 15 abnormality has been proposed. PWS patients with the chromosome 15 deletion are more prone to hypopigmentation compared with PWS individuals with normal chromosomes, but no other clinical differences are consistently identified between those with and without the chromosome deletion. Anthropometric, dermatoglyphic, and other clinical findings indicate homogeneity of PWS patients with the chromosome deletion and heterogeneity of the nondeletion patients. A review of our current understanding of the major clinical, cytogenetic, and DNA findings is presented, and clinical manifestations and cytogenetic abnormalities are summarized from the literature.
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PMID:Prader-Willi syndrome: current understanding of cause and diagnosis. 230 79

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

Prader-Willi syndrome is characterized by hypotonia, hypomentia, hypogonadism and obesity. A case of a 10-year-5-month-old girl who was diagnosed to have the typical symptoms associated with the Prader-Willi syndrome is described in the present report. The following are the dental findings. 1) Enamel hypoplasia, crowding over the anterior teeth and narrow dental arch were found. However there was no high palate in the maxilla. 2) The mesio-distal width of the present teeth were small compared with the national average. 3) According to X-ray cephalometric analysis, a retardation of the growth of the maxilla and mandible was found. 4) Because of hypomentia and the difficult management of the patient, dental treatment was performed under general anesthesia.
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PMID:[A case of Prader-Willi syndrome]. 248 83

An 11-old boy with Prader-Willi syndrome and partial epilepsy was reported. Muscular hypotonia in early infancy was extreme and developmental milestones were retarded, especially walk and speech. He achieved these landmarks within three years. The first seizure disorder was seen in the 9th year. The patient was characterized by hypotonic musculature, severe mental retardation, obesity (gynaecomasty, excess of fat on the thighs, the abdomen and the trunk), hypogonadism (a minute penis, hypoplastic scrotum and cryptorchidism). Apart from these characteristics, the patient presented some minor morphological anomalies (turicephalic skull, high-arched palate, abnormally shaped pinnae, clinodactily, defects on teeth enamel), and some skeleton and joint anomalies (small feet, kyphosis, lumbar lordosis, knock-knee, flat foot). Speech retardation, behaviour disturbance and inappropriate emotional reaction were noted. Karyotype was normal. Dermatoglyphic analysis showed some significant qualitative and quantitative characteristics. An abnormal glucose tolerance curve was obtained. Electroencephalogram showed an irritative paroxysmal discharge with primary focal activity in frontal-temporal cortical regions of the brain left hemisphere.
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PMID:[Case report of a boy with Prader-Willi syndrome and focal epilepsy]. 251 54

People with Prader-Willi syndrome exhibit infantile hypotonia and failure to thrive, genital hypoplasia, childhood-onset obesity, mental deficiency and behavioral abnormalities, hypogonadism, short stature, and characteristic dysmorphology. In over half the affected individuals, prometaphase chromosome analysis reveals a small interstitial deletion of chromosome 15q, del 15(q11-q12); with most of the remaining patients showing apparently normal chromosomes. Molecular genetic technology is currently being applied to the relevant region of chromosome 15 to determine if there is etiologic heterogeneity and to seek a consistent diagnostic marker. Diagnosis at this time is primarily based upon clinical criteria.
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PMID:Prader-Willi syndrome. 264 21

Forty-six patients with Prader-Willi syndrome were examined to determine the incidence and character of ocular abnormalities. All patients met clinical criteria for this syndrome including infantile hypotonia, hypogonadism, truncal obesity, intellectual impairment, dysmorphic facies, and short stature. Thirty-two patients had best corrected visual acuities between 6/6 and 6/9 in each eye. Seven patients (15%) had myopia greater than -3.75 diopters. Nineteen (41%) patients had astigmatism of 1.25 diopters or greater. Amblyopia of strabismic, anisometropic, or ametropic etiology was present in 11 (24%) of the patients. Strabismus was present in 25 (54%) patients: 22 (48%) patients had esotropia and three (7%) had exotropia. Nine patients either received or required strabismus surgery. Thirty-three percent of the patients examined for iris transillumination defects had this finding. This study represents the first large series of patients with Prader-Willi syndrome to undergo detailed ophthalmologic evaluation. Recognition of this syndrome is important because of the high incidence of potentially treatable ocular problems.
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PMID:Ophthalmologic features of Prader-Willi syndrome. 339 59

Two male nonconsanguineous cases (aged 4 years) of Prader-Willi syndrome are clinically and cytologically studied. Both had obesity, marked hypogonadism, reduced head circumference, psychomotor impairment, hypotonia, tooth decay, small hands and feet, immature EEG. Case 1 showed a "de novo" translocation 7;15 and case 2 showed a normal karyotype. According to various authors, many cases of Prader-Willi syndrome show the presence of a translocation of chromosome 15 onto an autosome or X chromosome. This is the first observation of chromosome 7 involvement in this translocation.
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PMID:[Cytogenetic and clinical aspects of Prader-Willi syndrome]. 360 13

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 manifestations of the Prader-Willi syndrome (PWS) including at least 5 of the following: obesity, compulsive eating, mental retardation, short stature, central hypotonia, hypogonadism, small hands and feet, hypopigmentation, and feeding problems in infancy. Results of high resolution chromosome analysis of the parents of both patients were normal. A comparison between these patients and 2 subjects from previous reports demonstrates phenotypic heterogeneity among the duplication 15q PWS patients. Two patients have the hypopigmentation seen in chromosomally normal and deletion PWS patients. These cases add to the variety of chromosome 15 aberrations which are associated with PWS.
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PMID:Duplication of proximal 15q as a cause of Prader-Willi syndrome. 368 17

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


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