conclusions since most of the symptoms of metabolic diseases in newborns are same as the signs of sepsis or other common diseases of this period, and also early diagnosis and treatment of these illnesses, especially in diseases such as hyperglycemia, can be influential in neural function of babies, it calls for serious attention and clinical vision of the doctors to stop mortality caused by suc...

BACKGROUND Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype-phenotype correlations have been reported, often with great clinical variability. We hereby report a novel homozygous nonsense mutation in th...

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...

This is a case report of a patient with idiopathic gingival hyperplasia and an undiagnosed genetic disorder that demonstrated static encephalopathy, mental retardation, developmental delay, seizures, hypotonia, and severe gingival hypertrophy. The clinical dental management and attempts to obtain a genetic diagnosis are described.

The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occurs with equal frequency in males and females and has been reported in mosaic and non-mosaic form...

Background: Spinal muscular atrophy (SMA) is a genetic motor neuron disease caused by mutations in the SMN1 (Survival Motor Neuron) gene, which leads to hypotonia and muscle weakness with high mortality related respiratory involvement. Gene therapy (GT) (onasemnogeno aberpavovec) for SMA, through an adeno-associated viral vector 9 (AAV9) was recently approved our country, but its safety efficac...

Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from complicated pregnancy polyhydramnios. During her stay in neonatal unit, infant remained dependent on ventilator, movements were mostly absent, except for occasi...

We report the first known ethnic Malay patient with laminin alpha-2 (merosin) deficiency (MDC1A), a subtype of congenital muscular dystrophy (CMD)as a result of novel LAMA2 gene mutations. The 21-month-old female presented with hypotonia at birth and gross motor delay of her distal lower limbs. Physical examination showed generalised hypotonia, hyporeflexia and myopathic facies but good cogniti...