Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation

Brodsky, Michael; ERKAN TURAN, KADRİYE; Khanna, Cheryl; Patton, Alice; Kirmani, Salrnan

doi:10.1016/j.jaapos.2014.02.010

Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation

Brodsky M. C., ERKAN TURAN K., Khanna C. L., Patton A., Kirmani S.

JOURNAL OF AAPOS, cilt.18, sa.4, ss.393-395, 2014 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 18 Sayı: 4
Basım Tarihi: 2014
Doi Numarası: 10.1016/j.jaapos.2014.02.010
Dergi Adı: JOURNAL OF AAPOS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.393-395
Hacettepe Üniversitesi Adresli: Evet

Özet

We report the association of congenital mydriasis with prune belly syndrome and cerebrovascular anomalies in a 9-year-old boy who was found to have an ACTA2 mutation. This case illustrates the spectrum of systemic malformations that are attributable to mutations in ACTA2 and expands the spectrum of cerebrovascular anomalies that are now known to accompany congenital mydriasis.