Syndrome characterized by growth retardation,
severe mental retardation, short stature, low growl like a cry, brachycephaly,
small ears, neck chain, carp mouth, nasal bridge diminished, stunted eyebrows
meeting in the middle, hirsutism and malformations of the hands. This condition
can occur sporadically or be associated with an autosomal dominant pattern of
inheritance or duplication of the long arm of chromosome 3.
Treatment and Prevention
The high frequency of feeding difficulties and gastroesophageal reflux (77%)
and the chance of death from apnea or aspiration require observation and early
medical advice regarding care and therapeutic nutrition in medical or surgical
necessary. When there are frequent vomiting and gastroesophageal reflux
important, should be performed imaging studies. The cardiac abnormalities are
present in approximately 13-29% of patients should therefore be evaluated in
subjects with this syndrome as well as renal anomalies.
The increased risk of chronic otitis and hearing loss must be taken into
account in advance so that they can be taken to improve the communication
capabilities. Other preventive measures should be undertaken including: summary
of urine for screening for urinary tract infections, oral health care suitable
for the detection and correction of dental anomalies, and occupational or
physical therapy to minimize joint changes. In school age children, there is
often cognitive changes (75-100%) and behavior (57%). The assessment of puberty
is especially important in males with hypogonadism. There may be a shortage of
growth hormone. Older individuals should be subject to regular assessments of
hearing and vision.
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