RHOMBENCEPHALOSYNAPSIS WITH FACIAL ANOMALIES AND PROBABLE AUTOSOMAL RECESSIVE INHERITANCE - A CASE-REPORT

Authors
ROMANENGO M TORTORIDONATI P DIROCCO M
Citation
M. Romanengo et al., RHOMBENCEPHALOSYNAPSIS WITH FACIAL ANOMALIES AND PROBABLE AUTOSOMAL RECESSIVE INHERITANCE - A CASE-REPORT, Clinical genetics, 52(3), 1997, pp. 184-186
Citations number
10
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical genetics → ACNP
ISSN journal
00099163
Volume
52
Issue
3
Year of publication
1997
Pages
184 - 186
Database
ISI
SICI code
0009-9163(1997)52:3<184:RWFAAP>2.0.ZU;2-#
Abstract
We report a 16-year-old boy, born to consanguineous parents, with ment al retardation, gait disturbances and dysarthria; brain magnetic reson ance showed features consistent with rhombencephalosynapsis. This cond ition is characterised by a hypoplastic single-lobed cerebellum. The i nterest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.