Abstract
We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.
| Original language | English |
|---|---|
| Pages (from-to) | 184-186 |
| Number of pages | 3 |
| Journal | Clinical Genetics |
| Volume | 52 |
| Issue number | 3 |
| Publication status | Published - Sep 1997 |
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Keywords
- Autosomal recessive inheritance
- Posterior fossa malformation
- Rhombencephalosynapsis
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance : A case report. / Romanengo, Marta; Tortori-Donati, Paolo; Di Rocco, Maja.
In: Clinical Genetics, Vol. 52, No. 3, 09.1997, p. 184-186.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Rhombencephalosynapsis with facial anomalies and probable autosomal recessive inheritance
T2 - A case report
AU - Romanengo, Marta
AU - Tortori-Donati, Paolo
AU - Di Rocco, Maja
PY - 1997/9
Y1 - 1997/9
N2 - We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.
AB - We report a 16-year-old boy, born to consanguineous parents, with mental retardation, gait disturbances and dysarthria; brain magnetic resonance showed features consistent with rhombencephalosynapsis. This condition is characterised by a hypoplastic single-lobed cerebellum. The interest of this case is the presence of common ancestors, pointing to an autosomal recessive inheritance of the malformation.
KW - Autosomal recessive inheritance
KW - Posterior fossa malformation
KW - Rhombencephalosynapsis
UR - http://www.scopus.com/inward/record.url?scp=0030807461&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030807461&partnerID=8YFLogxK
M3 - Article
C2 - 9377810
AN - SCOPUS:0030807461
VL - 52
SP - 184
EP - 186
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 3
ER -