Adducted thumb syndrome

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Skip to search form Skip to main content. Death occurred at 3 months due to respiratory insufficiency. Muscular biopsy revealed myopathic abnormalities.

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Congenital clasped thumb describes an anomaly which is characterized by a fixed thumb into the palm at the metacarpophalangeal joint in one or both hands. A study of Weckesser et al. The anomaly is in most cases bilateral present in both hands.

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Adducted thumb syndrome recessive form is a rare genetic disorder reported in one family. This disorder affects multiple parts of the body, and children are born with clasped thumbs, a small head, a cleft palate, and difficulty breathing. Individuals will most often also have intellectual disability.

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This page gathers quality information from trusted sources. You can learn more about the disease, visit handpicked websites, and find resources to help you in your daily life. Need more information? Click the menu on the left to find more!

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Three Amish children and an unrelated child had cleft palate, arthrogryposis, craniostenosis, swallowing difficulties, and microcephaly. Other features included prominent occiput, ophthalmoplegia, telecanthus, abnormal ear placement, and clubfeet. Neuropathologic study of 1 of the Amish patients, who died at 18 days of age, showed dysmyelination with excessive myelin-dependent gliosis, myelin solubilization, and transient formation of phospholipid-containing plaques on the surface of the brain during fixation in formalin.

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If your institution subscribes to this resource, and you don't have a MyAccess Profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus. Stiff facies, open mouth, high arched palate with cleft. Craniostenosis and microcephaly.

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The third ventricle is dilated. Hand views show the thumb in an adducted state see last stack images and cine loop. There is severe bilateral ventriculomegaly.

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Thumb can be passively abducted and extended against resistance of thumb flexors. No other digital anomaly present. Average 4.

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Systems used to automatically annotate proteins with high accuracy:. Select item s and click on "Add to basket" to create your own collection here entries max. Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.

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