Article
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
American journal of medical genetics. Part A - 1 Sept 2015
Couser Natario L, Masood Maheer M, Strande Natasha T, Foreman Ann Katherine M, Crooks Kristy, Weck Karen E, Lu Mei, Wilhelmsen Kirk C, Roche Myra, Evans James P, Berg Jonathan S, Powell Cynthia M
Abstract excerpt
The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. He...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.