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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
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
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,
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
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
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