Contact Us MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries.
A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships."Sener (1994) described a female child who had facial dysmorphism with hypodontia, dental occlusion, and buccal frenula.
In addition she had thin hair and dystrophic nails.
An MRI scan showed multiple cysts of curvilinear configuration, representing extremely dilated Virchow-Robin spaces (the perivascular spaces lined by ependymal/leptomeningeal cells).
Sener (1994) described this as a distinct neurocutaneous syndrome. (2000) described 2 children who they believed had the same condition as that described by Sener (1994). Case 1 had edema of the neck at birth with a large anterior fontanel, a short penis with large scrotum, and anteriorly placed anus.
Cranial ultrasound showed partial agenesis of the corpus callosum, and renal ultrasound showed mild dilatation of the pelvicalyceal system.
Bilateral inguinal herniae were repaired at 4 months of age.
Ophthalmologic examination showed hypoplastic left disc and a small coloboma of the right disc. Karyotype, Skeletal survey, and metabolic investigations were normal.
He had hypertelorism with a wide mouth, long, smooth philtrum, and small posteriorly rotated ears. Case 2 had similar dysmorphic features but in addition had a midline cleft of the upper alveolar margin and 2 neonatal teeth. MRI scan in both children showed multiple cystic areas within the white matter radiating from the ventricles into oval lobes with sparing of the basal ganglia, brainstem, and corpus callosum. (2000) observed that the distribution of cystic changes in the MRI scan of their cases mirrored the perivascular distribution of the Virchow-Robin spaces.They noted that similar MRI findings had been described in the mucopolysaccharidoses (see 607014); however, screening of urinary amino acids was negative in their cases.Winter (2001) reviewed several reports that are now listed in this entry and in 243310.He noted considerable overlap between the cases and suggested that they represent a syndrome, called the cerebrofrontofacial syndrome, that is comprised of 3 types based on brain MRI findings.The brain scans in type 1 are characterized by periventricular nodular heterotopia.In type 2, there are multiple cystic areas in the white matter radiating at right angles to the ventricles.