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Genet Couns 1995;6(3):233-40
Oto-palato-digital syndrome with features of type I and
II in brothers.
Horn D, Nitz I, Bollmann R.
Institute of Medical Genetics, School of Medicine (Charite), Humboldt
We report on the oto-palato-digital syndrome (OPD) in two sons of a mother
showing minimal signs of the condition. The index patient, a 10-year-old boy,
presents typical symptoms of OPD type I together with bowing of the long bones
and abnormalities of the thorax and spinal column. During the following
pregnancy ultrasonographic studies of the male fetus in the 16th week of
gestation revealed severe micrognathia, short and wide thumbs, and big toes, and
bowed tibiae. After termination of the pregnancy further features were observed
which fulfilled the diagnostic criteria of both OPD I and II. A possible
explanation of these findings is that OPD type I and II and the features in the
described cases are part of a continuous clinical spectrum of the same
underlying mutation, or that several different alleles are involved in the OPD
type I, type II, and mixed phenotypes.
PMID: 8588852 [PubMed - indexed for MEDLINE]