Glossary in Congenital Malformations
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#Galloway-Mowat Syndrome: The initial description by Galloway and Mowat
include early onset nephrotic syndrome that were refractory to medical
treatment, microcephaly, and hiatal hernia. The current opinion on Galloway-Mowat
syndrome is that it is a migration disorder characterized by a combination of
microcephaly and early onset nephrotic syndrome. Other important clinical
features include proteinuria at birth and seizure. Hiatus hernia is a variable
finding. Patients usually die before three years of age. The brain is small but
with large ventricles and abnormal gyral pattern. Pachygyria is more frequently
described than polymicrogyria. The cortex is poorly stratified, with neuronal
loss, focal neuronal calcification and polymicrogyria. There are also neuronal
loss and gliosis in basal ganglia. Abnormalities of the inferior olive have also
been described. There may be loss of granular layer in the cerebellum but
Purkinje cells are relatively preserved. Extensive loss of neurons of the fascia
dentata is also noted in the CHOP case. There is also white matter loss and loss
of myelination. Personal comment: The overall picture of the CHOP case is that
of a migration disorder with degenerative/gliotic changes particularly in the
white matter.
#Goldenhar-Gorlin
Syndrome (oculoauriculovertebral dysplasia-hemifacial
microsomia): Characterized
by a tetrad of epibulbar dermoids, auricular deformities, preauricular
appendages, and pretragal fistulae. There may also be vertebral anomalies,
hemifacial microsomia, and the first and the second branchial arch syndrome.
Abnormalities of the central nervous system include occipital and frontal
encephalocele, hydrocephalus, aqueductal stenosis, agenesis and hypoplasia of
the corpus callosum, lipoma of the corpus callosum, holoprosencephaly, various
skull and vertebral abnormalies, and other abnormalities. [Aleksic
S et al., 1984], [Aleksic
S et al., 1983], [Margolis
S et al., 1984], [Mansour
AM et al., 1985]
#Gregg
syndrome: congenital rubella syndrome.
NeuroLearn NeuroHelp Malformations General Syndromes For Comment: KarMing-Fung@ouhsc.edu