Title: Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review
Authors: Odent, S ×
Le Marec, B
Toutain, A
David, Ans
Vigneron, J
Tréguier, C
Jouan, H
Milon, J
Fryns, Jean-Pierre
Verloes, A #
Issue Date: Feb-1998
Series Title: American Journal of Medical Genetics vol:75 issue:4 pages:389-94
Abstract: Intracerebral cysts and porencephaly or arachnoid cysts are rarely but are repeatedly reported in orofaciodigital (OFD) syndrome type 1. We report on 2 families in which OFD syndrome type 1 was observed with central nervous system (CNS) malformations and 3 sporadic cases of OFD with CNS defects, most likely representing fresh mutations for OFD 1. In one case, vermis hypoplasia was present; in another, periventricular heterotopiae were noted. We review the literature on CNS anomalies in OFD syndromes and stress the difficulties in genetic counseling and functional prognosis for children of OFD 1 female carriers prenatally diagnosed with a malformation of the brain. As for CNS malformations, renal cystic disease is an often overlooked complication specific to OFD 1. In 1 family, cystic medullary disease was noted in OFD 1 carriers, leading 1 patient to dialysis by age 35 years and the other to severe renal insufficiency by age 28 years. Longitudinal follow-up of OFD 1 carriers should be performed, and renal function should be assessed in those with cysts because the functional prognosis of this developmental anomaly may be worse than usually reported in the literature.
ISSN: 0148-7299
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Rehabilitation Sciences - miscellaneous
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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