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muscle hypotonia/obesitas
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Diagnosis dialog for pediatric physical therapists: hypotonia, developmental coordination disorder, and pediatric obesity as examples.
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OBJECTIVE
To clarify what diagnosis means for pediatric physical therapists, to provide several examples of human movement dysfunction syndromes, and to offer guidance for how pediatric physical therapists may continue this work in any clinical setting.
CONCLUSIONS
The importance of diagnosis in
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect.
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The clinical features of Angelman syndrome (AS) comprise severe mental retardation, postnatal microcephaly, macrostomia and prognathia, absence of speech, ataxia, and a happy disposition. We report on seven patients who lack most of these features, but presented with obesity, muscular hypotonia and
Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers.
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We describe two brothers born to consanguineous parents, who presented with hypotonia and hypoglycaemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features including a prominent forehead, low nasal bridge, midface hypoplasia,
Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.
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Monosomy 1p36 is one of the most commonly observed mental retardation (MR) syndromes that results in a clinically recognizable phenotype including delayed psychomotor development and/or MR, hypotonia, epilepsy, hearing loss, growth delay, microcephaly, deep-set eyes, flat nasal bridge and pointed
Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.
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Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be
Hypotonia and obesity syndrome.
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A 3 year old with obesity and hypotonia. Prader-Willi syndrome.
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[Willi-Prader syndrome (hypotonia, hypomentia, hypogonadism, obesity)].
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Syndrome of retarded growth, obesity, muscular hypotonia and mental deficiency (Prader-Willi syndrome). Report of a case.
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Syndrome of retarded growth, obesity, muscular hypotonia and mental retardation (Prader-Willi syndrome). Report of a case.
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[Infant hypotonia, obesity, hypogenitalism and oligophrenia--new viewpoints on the etiology and symptoms of Prader-Willi syndrome].
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We present four cases of Prader-Willi syndrome. Two of them have an abnormality of a chromosome 15, the other both show different chromosomal abnormalities. Translocations or deletions were found recently in the bands 15q11/12 in about 60% of the cases of Prader-Willi syndrome. The consequences for
A syndrome of benign congenital hypotonia, gross obesity, delayed intellectual development, retarded bone age, and unusual facies.
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[The hypotonia-hypomentia-hypogonadism-obesity syndrome (Prader-Willi-Labhart syndrome) in a 38-year-old man].
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Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children.
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Syndrome of hypotonia-hypomentia-hypogonadism-obesity (HHHO) or Prader-Willi syndrome.
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