443 August 2013 I NFANTS with hypotonia of unknown etiology pose a unique challenge as many of the potential diagnoses have major, often conflicting, anesthetic management implications. The differential diagnosis of hypotonia is long and includes possibilities such as Duchenne muscular dystrophy, central core disease, and multiminicore disease. Intravenous anesthetic techniques are recommended ...

We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor ...

Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies-3 (IHPRF-3) Syndrome is a rare pathology occurring due to mutations in the TBC1 domain containing kinase (TBCK). This neurodevelopmental disorder presenting neurological dysmorphic feature including intellectual disability, limb craniofacial abnormalities. We present case of TBCK mutation variant (p.Gln164*), on Exon 6; ...

INTRODUCTION Hypotonia, or decreased muscle tone, is a common diagnosis in infants and children. The presence of hypotonia is generally indicative of an underlying neuromuscular or genetic disorder, including Down syndrome. In conjunction with decreased muscle tone, children with hypotonia typically exhibit ligamentous laxity and instability of the lower limb joints, which may result in abnorma...

Zellweger syndrome, a paradigm of human peroxisomal disorders is characterized by dysmorphic features, hypotonia, severe neuro-developmental delay, hepatomegaly, renal cysts, sensorineural deafness and retinal dysfunction. This is a case report of a baby boy born with facial dysmorphism, profound hypotonia, seizures, and hepatomegaly. The diagnosis was not evident initially but only later when ...

OBJECTIVE: To describe 6 patients with less than 3 years of age that were diagnosed with Prader-Willi syndrome (PWS) due to hypotonia, poor sucking, slight facial anomalies and minor abnormalities of hands and feet. PWS is a neurobehavioural disorder characterized by two distinct phases; in the first, the neonate presents variable degree of hypotonia, feeding problems with none or poor sucking;...

Extreme mobility of the joints is of great advantage to an acrobat, permitting him to assume fascinating postures. When the condition appears in infancy, however, it may be quite alarming, as it may easily be confused with serious organic disease if the features are not known. There are two basic disturbances in this condition: (1) Abnormal mobility of the bones at the joints, and (2) extreme h...

The characteristics of idiopathic hypotonic gait are poorly understood. The purpose of this study was to identify biomechanical parameters that differentiate between children with hypotonia and an age-matched control group. Twelve children with idiopathic hypotonia, aged 6–13 years, participated in the study. Twenty-two children with no known disorders, aged 6–13 years, served as a control grou...

Extreme mobility of the joints is of great advantage to an acrobat, permitting him to assume fascinating postures. When the condition appears in infancy, however, it may be quite alarming, as it may easily be confused with serious organic disease if the features are not known. There are two basic disturbances in this condition: (1) Abnormal mobility of the bones at the joints, and (2) extreme h...