A second case of Devriendt syndrome.
We report on a severely retarded female with Robin sequence, short stature, seizures, and a characteristic segmentation of the second metacarpal. A first patient with this rare combination has been published by Devriendt et al. (2000).
Koenig
Rainer
R
Institute of Human Genetics, Johann Wolfgang Goethe University, Frankfurt Clinical Genetics Unit, Altona Children's Hospital, Hamburg.
Meinecke
Peter
P
Fuchs
Sigrun
S
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001827:Body Height; D002348:Carpal Bones / Q000002:abnormalities; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012640:Seizures; D013577:Syndrome