Little information is available on the long-term course and adult outcome of patients with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency. We describe the course of a 32-year-old woman with hypotonia, dystonia, choreoathetosis, mental retardation, behavioral disturbances, and incomplete puberty due to PTPS deficiency. From the age of 6 months she developed progressive hypotonia and chor...

Prader-Willi syndrome is characterized by infantile hypotonia, childhood-onset obesity, short stature, mental retardation, hyperphagia, hypogonadism. After infantile hypotonia phase, patient is prone to morbid obesity due to hyperphagia. Complications associated with morbid obesity are recognized as the main risk factors for death the lifespan of patients with Prader-Willi syndrome. We experien...

Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders present at birth with muscle weakness, hypotonia and contractures. Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth. A particular subset of classic CMD is characterized by a complete absence of merosin. Merosin-deficie...

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....

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 ...

BACKGROUND Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major clinical features include neonatal hypotonia, developmental delay, short stature, behavioral abnormalities, childhood-onset obesity, hypothalamic hypogonadism, and characteristic appearance. The genetic basis of PWS is also complex. It is caused by absence of expression of the paternally active genes in the PWS...

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; ...