Floppy infants exhibit poor control of movement, delayed motor skills, and hypotonic motor movement patterns. Weak infants always have hypotonia, but hypotonia may exist without weakness. Some indications of CNS abnormality are because of poor state of alertness, lack of response to visual and auditory stimuli, inability to manage co-ordinated functions like swallowing and sucking noted that th...

Introduction Cytogenomic analyses play a fundamental role in the detection of genetic disorders patients with developmental delay, and are an excellent diagnostic method. Objective Report case female child delay hypotonia relate existence copy-number variations to understand their contribution appearance phenotype. Methods This is report. Anamnesis, 10 months age at first appointment. Mother re...

Genetic studies of rare diseases can identify genes of unknown function that strongly impact human physiology. Prolyl endopeptidase-like (PREPL) is an uncharacterized member of the prolyl peptidase family that was discovered because of its deletion in humans with hypotonia-cystinuria syndrome (HCS). HCS is characterized by a number of physiological changes including diminished growth and neonat...

Introduction: Electromyography (EMG) is an invaluable diagnostic tool to reach a diagnosis in patients with hypotonia. The objective of this study was observe the EMG patterns children presented as floppy baby. Methods: It cross-sectional conducted neurophysiology department National Institute Neurosciences and hospital over 4 years. Floppy children, aged 1 month 5 years, referred laboratory fo...

Case presentation: 1: A boy with developmental delay and congenital macrocephaly, evolving dysphagia airway hypotonia. Complete exome sequencing was performed detection of pathogenic variant in the PTEN gene (c.737C>T). 2: Premature boy, delayed development departure, macrocephaly ephelides foreskin. He developed nodular hyperplasia ileum painful amplification syndrome pharmacoresistant pain. S...

South African Journal of Occupational Therapy — Volume 43, Number 3, December 2013 36. Curran A & Jardine P. The Floppy Infant. Current Paediatrics,1998;8:37-42. 37. Walton JN. The Floppy Infant. Cerebral Palsy Bulletin,1960;2:10-18. 38. Lisi EC & Cohn RD. Genetic Evaluation Of The Pediatric Patient With Hypotonia: Perspective From A Hypotonia Specialty Clinic And Review Of The Literature. Deve...