Neonates present with microcephaly, central apnea requiring respiratory support, dysmorphism (sloping forehead, midface hypoplasia, micrognathia ), contractures (50%) ''arthrogryposis'', severe clonus,and hypertonia. [rarediseases.info.nih.gov]

Neonates present with microcephaly, central apnea requiring respiratory support, dysmorphism (sloping forehead, midface hypoplasia, micrognathia), contractures (50%) ”arthrogryposis”, severe clonus,and hypertonia. [tellmegen.cl]

• Myoclonus

  […] facial shape Unusual facial appearance 0001999 Arthrogryposis multiplex congenita 0002804 Central apnea 0002871 Congenital microcephaly 0011451 Hypertonia 0001276 Hypoplasia of the brainstem Small brainstem Underdeveloped brainstem [ more ] 0002365 Myoclonus [rarediseases.info.nih.gov]

• Gliosis

  Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal recessive inheritance 0000007 Congenital contracture 0002803 Congenital onset Symptoms present at birth 0003577 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Gliosis [rarediseases.info.nih.gov]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

\r\n \r\n The treatment for all types of pontocerebellar hypoplasia is only symptomatic and the prognosis is bad, since most patients die during infancy or childhood. \r\n [tellmegen.cl]

\r\n \r\n The treatment for all types of pontocerebellar hypoplasia is only symptomatic and the prognosis is bad, since most patients die during infancy or childhood. \r\n [tellmegen.cl]

Etiology PCH4 is caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54gene. [rarediseases.info.nih.gov]

Epidemiology PCH4 has been reported in 10 families to date. Clinical description PCH4 is characterized prenatally by polyhydramnios. [rarediseases.info.nih.gov]