Medical condition
Craniodiaphyseal dysplasia Other names CDD or Lionitis Craniodiaphyseal dysplasia has an autosomal recessive pattern of inheritance[1]
Craniodiaphyseal dysplasia (CDD ), also known as lionitis , is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull , disfiguring the facial features and reducing life expectancy .
These calcium deposits decrease the size of cranial foramina , and can decrease the circumference of the cervical spinal canal. In the few cases recorded, most died in childhood.
Cause
The underlying genetics are uncertain.[2]
Diagnosis
Among the medical signs are dacryocystitis , seizures , intellectual disability , and paralysis , each of which is a complication resulting from the diminutive foramina. A common sign reported as a result of the disease has been widely spaced eyes.[3]
Peter Bogdanovich 's 1985 drama film Mask drew public attention to the case of Roy Lee "Rocky" Dennis , an American boy with this disorder who died at the age of 16, in 1978.
In the American medical drama Grey's Anatomy episode "Yesterday ", Jesse Plemons plays a teenage boy with lionitis.
The main character of the two-issue comic book miniseries Friday the 13th: How I Spent My Summer Vacation by Wildstorm Productions is a 13-year-old boy with the disorder.
In the anthology television series American Horror Story season 1, Beauregard, the brother of Tate and Adelaide, has lionitis.
See also
References
^ "OMIM Entry - 218300 - CRANIODIAPHYSEAL DYSPLASIA; CDD" . omim.org . Retrieved 9 July 2017 .
^ Brueton LA, Winter RM (November 1990). "Craniodiaphyseal dysplasia" . J. Med. Genet . 27 (11): 701–6. doi :10.1136/jmg.27.11.701 . PMC 1017262 . PMID 2277386 .
^ Reichenberger, Ernst; Chen, I.-Ping (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Craniometaphyseal Dysplasia, Autosomal Dominant" , GeneReviews® , Seattle (WA): University of Washington, Seattle, PMID 20301634 , retrieved 2021-01-18
External links
Classification External resources