The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

Abstract

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… (More)
DOI: 10.1002/ajmg.a.37129

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Cite this paper

@article{Couser2015ThePO, title={The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.}, author={Natario L Couser and Maheer M Masood and Natasha T Strande and Ann Katherine M. Foreman and Kristy R Crooks and Karen E. Weck and Mei Lu and Kirk C. Wilhelmsen and Myra I Roche and James P Evans and Jonathan S Berg and Cynthia M Powell}, journal={American journal of medical genetics. Part A}, year={2015}, volume={167A 9}, pages={2176-81} }