Английская Википедия:Acrocraniofacial dysostosis

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Шаблон:Infobox medical condition

Acrocraniofacial dysostosis, also known as Kaplan Plauchu Fitch syndrome is a very rare hereditary disorder which is characterized by cranio-facial dysmorphisms, hearing loss, digital clubbing, and osseous anomalies.[1] Only 2 cases have been described in medical literature.[2]

Description

The following is a list of the symptoms of the disorder:[3]

Cranio-facial

Auditory

Osseous

Discovery

This disorder was first discovered in 1988 by Kaplan et al. when they described two sisters born to consanguineous parents with all the symptoms mentioned above. They suggested this disorder to be inherited in an autosomal recessive fashion.[4]

References

Шаблон:Reflist

Шаблон:Genetic-disorder-stub