A further case of hypotonia, ataxia, developmental delay and tooth enamel defect syndrome due to a recurrent C-terminal binding protein 1 mutation.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000321
Abstract: Short clinical summary A 7-year-old boy born to non-consanguineous parents, with an unremarkable family history, presented with global developmental delay. Antenatal and perinatal periods were uneventful. He was born out of a full-term spontaneous vaginal… read more here.
Keywords: support months; case hypotonia; hypotonia ataxia; age ... See more keywords
Case 3: Hypotonia in the Infant: When the Source Is Unknown
Sign Up to like & getrecommendations! Published in 2020 at "Pediatrics in Review"
DOI: 10.1542/pir.2017-0241
Abstract: 1. Endya L. Frye, MD*,† 2. Angela Hartsell, MD, MPH*,† 3. Suresh Nagappan, MD, MSPH*,† 1. *Department of Pediatrics, University of North Carolina Hospital, Chapel Hill, NC 2. †Pediatric Teaching Program, Moses Cone Hospital, Greensboro,… read more here.
Keywords: infant source; hypotonia; hypotonia infant; source unknown ... See more keywords