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. Author manuscript; available in PMC: 2017 Oct 1.
Published in final edited form as: Semin Fetal Neonatal Med. 2016 May 7;21(5):321–332. doi: 10.1016/j.siny.2016.04.008

Table 2.

Typical clinical, imaging, and genetic characteristics of cerebellar malformations without known genetic cause.

Disorder Clinical features Imaging features Causes/testing Inheritance
OCCS Orbital cysts, micro/anophthalmia, focal skin defects and appendages Severely hypoplastic vermis, normal or hypoplastic cerebellar hemispheres, enlarged dysplastic tectum, thick, vertical SCPs, CC agenesis, frontal PMG Unknown Sporadic
PCH type 7 Ambiguous or female external genitalia with 46,XY karyotype, hypergonadotrophic hypogonadism, hypotonia, seizures.
Severe NDV impairment
Small pons and cerebellum, enlarged ventricles, thin corpus callosum Unknown AR
PHACE syndrome Segmental hemangioma (usually head and neck), intracranial and great vessel abnormalities.
Variable NDV impairment in <50% (usually mild).
Unilateral cerebellar hypoplasia with or without vermis involvement, DWM.
Dysmorphic or absent major vessels.
Occasional heterotopia, PMG.
Unknown Sporadic
PTCD Hearing loss, trigeminal anesthesia/corneal scarring, dysphagia, variable cardiac and vertebral/rib defects, substantial ataxia.
Moderate to severe NDV impairment.
Hypoplastic pons, mildly hypoplastic cerebellum, “cap” of white matter on dorsum of pons, markedly hypoplastic middle and inferior cerebellar peduncles No specific testing Sporadic
RES all types Alopecia, trigeminal anesthesia (GLH syndrome), head shaking (usually “figure 8” pattern), hyperactivity/impulsivity, VACTERL features (<50%), variable ataxia.
Full range of NDV outcome.
Absent septum pellucidum, aqueductal stenosis, fused colliculi, posterior holoprosencephaly (rare), absent olfactory bulbs (<50%) Unknown Sporadic (one recurrence reported)

OCCS, oculocerebrocutaneous syndrome; SCP, superior cerebellar peduncles; CC, corpus callosum; PMG, polymicrogyria; PCH, pontocerebellarhyplasia; NDV, neurodevelopmental; AR, autosomal recessive; PHACE, Posterior fossa malformations, Hemangioma, Arterial anomalies, Cardiac defects, and Eye anomalies; DWM, Dandy–Walker malformation; PTCD, pontine tegmental cap dysplasia; RES, rhombencephalosynapsis; GLH, Gómez–López–Hernández; VACTERL, Vertebral defects, Anal atresia, Cardiac defects, Tracheo-Esophageal fistula, Renal defects, and Limb defects.