To present the case of a child with microcephaly, PCH and West syndrome, in which the genetic study allowed to make the diagnosis of a deletion on chromosome X. [runa.sergas.gal]

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

• Hyperreflexia

  Abnormality of the musculoskeletal system Axial hypotonia Brachycephaly Neonatal hypotonia Poor head control Progressive microcephaly Abnormality of the nervous system Cerebellar atrophy Cerebellar hypoplasia Cerebral atrophy Global developmental delay Hyperreflexia [ncbi.nlm.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]

Given the wide differential diagnosis proposed at the PCH, new cytogenetic techniques have improved the classification of HPC and in some cases establish their etiology, so in these cases can provide appropriate genetic counseling to families. [runa.sergas.gal]