A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of t...

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...

Congenital myotonic dystrophy type 1 (DM1) presents severe generalized weakness, hypotonia, and respiratory compromise after delivery with high mortality and poor prognosis. We presented a congenital DM1 of premature twins in the 30th week of gestation. These twins were conceived by in vitro fertilization (IVF). Both babies presented apnea and hypotonia and had characteristic facial appearance....

Case presentation: This is a five-year-old boy, admitted with global development delay associated limb deformities. He was born prematurely at 35 weeks, by cesarean delivery due to pelvic presentation. During pregnancy, the mother noticed reduced fetal movements, and birth, neonatal resuscitation hospitalization required. congenital arthrogryposis (CA), thumbs in bilateral adduction, restricted...

Abstract Background Joubert syndrome (JS) is a rare autosomal recessive genetic heterogeneously inherited disorder characterized by neurological features that include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. Case presentation The main purposes of the case report are to highlight benefit multidisciplinary rehab...

Prader-Labhart-Willi or Prader-Willi syndrome (PWS) was first reported in 1956, and additional syndrome details have been elucidated since then. This syndrome is primarily characterized by severe neonatal hypotonia, dysmorphic changes, retarded physical and cognitive development, early hyperphagia, obesity, sleep disorders, psychiatric and behavioral disorders, growth deficit and hypogonadism. ...

A term male newborn was admitted to the neonatal intensive care unit for respiratory distress and feeding difficulty. His 19-year-old mother was apparently healthy. The baby had generalized hypotonia, weakness, a weak cry, and a tented upper lip (figure). Maternal examination facilitated diagnosis (videos 1 and 2 on the Neurology Web site at www.neurology.org). Genetic testing identified 99 CTG...

Phelan-McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features...

Objective: To determine the relative frequency of specific disorders that present with hypotonia in Iran. Methodology: It is a retrospective, cross–sectional study in which 107 children with hypotonia, aged one month to three years, were evaluated in Baqyiatallah Hospital between June 2003 and June 2006. Children were categorized into groups of central and peripheral hypotonia, and specific dia...

Harper, P. S. (1975). Archives of Disease in Childhood, 50, 505. Congenital myotonic dystrophy in Britain. I. Clinical aspects. A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirme...