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Correct Answer: turner syndrome
isolated peripheral edema is a hallmark sign of turner syndrome. turner syndrome, a genetic disorder, affects females and results from a complete or partial absence of one of the x chromosomes. this condition is characterized by various physical abnormalities and health issues, among which peripheral edema, particularly in the hands and feet, is a common early sign.
in turner syndrome, the lymphatic system, which is crucial for maintaining fluid balance within tissues, is often underdeveloped. this abnormality can lead to the accumulation of lymph fluid in the extremities, causing swelling or edema. this type of edema is generally termed as lymphedema. in infants with turner syndrome, this lymphedema is particularly noticeable at birth and can be one of the first indications prompting further genetic investigation.
unlike in adults or older children, where edema might commonly indicate cardiovascular or renal problems, the occurrence of such isolated peripheral edema in infants does not usually suggest the same issues. although turner syndrome can be associated with heart defects such as coarctation of the aorta, the isolated edema itself is more directly a consequence of the compromised lymphatic system rather than heart function.
to summarize, while peripheral edema can occur in various conditions, in the context of infant patients, it is particularly indicative of turner syndrome due to the associated lymphatic dysplasia. this feature helps in distinguishing turner syndrome from other syndromes like down syndrome, edwards syndrome, or eagle-barrett syndrome, where such specific presentation of edema is not typically a hallmark feature.
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