Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet

Megan A Waldrop; Daniel R Boue; Emily Sites; Kevin M Flanigan; Richard Shell

doi:10.1016/j.pediatrneurol.2017.01.026

Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet

Pediatr Neurol. 2017 Sep:74:11-14. doi: 10.1016/j.pediatrneurol.2017.01.026. Epub 2017 Feb 4.

Authors

Megan A Waldrop¹, Daniel R Boue², Emily Sites³, Kevin M Flanigan⁴, Richard Shell⁵

Affiliations

¹ The Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, The Ohio State University, Columbus, Ohio; Department of Neurology, The Ohio State University, Columbus, Ohio. Electronic address: [email protected].
² Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio.
³ Department of Pediatric Pulmonology, Nationwide Children's Hospital, Columbus, Ohio.
⁴ The Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio; Department of Pediatrics, The Ohio State University, Columbus, Ohio; Department of Neurology, The Ohio State University, Columbus, Ohio.
⁵ Department of Pediatrics, The Ohio State University, Columbus, Ohio; Department of Pediatric Pulmonology, Nationwide Children's Hospital, Columbus, Ohio.

PMID: 28676249
PMCID: PMC5544583
DOI: 10.1016/j.pediatrneurol.2017.01.026

No abstract available

Keywords: Native American myopathy; Pierre Robin syndrome; congenital fiber type disproportion; congenital myopathy; hypotonia; malignant hyperthermia syndrome.

Publication types

Case Reports
Research Support, N.I.H., Extramural

MeSH terms

Child, Preschool
Cleft Palate / complications
Cleft Palate / diagnosis*
Cleft Palate / etiology
Cleft Palate / therapy
Diagnosis, Differential
Female
Foot Deformities, Congenital / diagnosis*
Foot Deformities, Congenital / etiology
Foot Deformities, Congenital / therapy
Humans
Infant, Newborn
Malignant Hyperthermia / complications
Malignant Hyperthermia / diagnosis*
Malignant Hyperthermia / therapy
Micrognathism / diagnosis*
Micrognathism / etiology
Micrognathism / therapy
Muscle, Skeletal / pathology
Myotonia Congenita / complications
Myotonia Congenita / diagnosis*
Myotonia Congenita / therapy

Supplementary concepts

Native American myopathy

Grants and funding

T32 NS077984/NS/NINDS NIH HHS/United States