Achiasma and Kapur-Toriello syndrome: Two rare entities.

ABSTRACT:

Purpose

Describe a unique case of achiasma in a patient with Kapur-Toriello syndrome.

Observations

We provide a brief review of achiasma with common findings on examination and imaging studies, and a published classification system. In addition, consistent with the rare Kapur-Toriello syndrome, he had a right unilateral cleft lip and palate, neurologic abnormality in his achiasma, anal atresia, vesicoureteral reflux, hypospadias, and growth deficiency.

Conclusions

and Importance: Achiasma is an incredibly rare neurological deficit and we present the first case of achiasma in Kapur-Toriello syndrome.

SUBMITTER: Justin GA 

PROVIDER: S-EPMC6581986 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature