Английская Википедия:Aortic arch anomaly - peculiar facies - intellectual disability

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Шаблон:Orphan

Шаблон:Infobox medical condition

Aortic arch anomaly - peculiar facies - intellectual disability is a rare, genetic, congenital developmental anomaly which is characterized by heart abnormalities, cranio-facial dysmorphia, and intellectual disabilities. No new cases have been reported since 1968.[1][2]

Signs and symptoms

People with this disorder usually have the following symptoms:[3]

Heart

  • Right-sided aortic arch

Craniofacial

Intellect

Etiology

This disorder was first discovered in 1968,[4] when a mother and 3 of her children (4 cases) were described with the symptoms mentioned above. In this case, additional features were found in a majority of the patients; three of the patients had esophageal indentation and left ligamentum arteriosum, two of the patients, a still-born baby, had anencephaly. Another child died due to congenital heart disease. The child in question also had microcephaly.[5] This disorder is suspected to be autosomal dominant.[1]

References

Шаблон:Reflist