Kabuki syndrome

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

Ablepharon

Absent eyelids.


Total: 2

                       


(per page)
PMID (PMCID)
18512233
 FEMALE Child
Complex toe syndactyly with characteristic facial phenotype: a new syndrome?
Sobreira NL, Cernach MC, Brunoni D, Perez AB.
Am J Med Genet A. 2008;146A(13):1725-8.
The atypical facial features of our patient resemble Kabuki syndrome but oligodactyly and complex syndactyly have not been described in Kabuki syndrome and this patient has normal intelligence, and extreme eyelid defect (resembling ablepharon).
18512233
 FEMALE Child
Complex toe syndactyly with characteristic facial phenotype: a new syndrome?
Sobreira NL, Cernach MC, Brunoni D, Perez AB.
Am J Med Genet A. 2008;146A(13):1725-8.
The atypical facial features of our patient resemble Kabuki syndrome but oligodactyly and complex syndactyly have not been described in Kabuki syndrome and this patient has normal intelligence, and extreme eyelid defect (resembling ablepharon).