Familial Dandy‐Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: Prenatal diagnosis and postnatal outcome in brothers. A new syndrome?

Abstract

Brothers are reported with an apparently new constellation of manifestations including Dandy-Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X-linked recessive. An extensive review of the differential diagnosis of DWC is provided.

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

“…Different autosomal dominant, recessive or X linked genetic alterations can be found in subjects with the Dandy–Walker malformation, as well as chromosomal abnormalities 12. Nevertheless, these abnormalities have not been reported before in patients with spastin mutations, although HSP and Dandy–Walker malformation were described in two brothers, before the discovery of SPG4 gene 13.…”

“…Dandy–Walker continuum can be ascribed to a developmental disturbance of the posterior fossa during the sixth to seventh week of gestation 12. The basic pathological features of spastic paraparesis are degeneration of the corticospinal tracts and thinning of the posterior columns 1…”

Surgical Treatment of 13 Pediatric Patients with Dandy-Walker Syndrome

“…The incidence of D-WS is about 1 in 30,000 live births [5, 9, 10]. D-WS among the etiologies of hydrocephalus has been estimated to be between 2 and 4% [6, 7,11,12,13].…”

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

“…20 We believe that the recognition of the full spectrum of phenotypes associated with oligophrenin-1 dysfunction and appropriate functional studies will shed new light onto the processes leading to the development of the human cerebellum. 6 Chitayat et al 21 Illarioshkin et al, 8 Bertini et al 22 Christianson et al 23 Pettigrew et al 24 …”