A female patient with neurological, facial, digital and renal abnormalities: another case of the neurofaciodigitorenal (NFDR) syndrome?
We report a female patient with severe mental retardation and multiple congenital anomalies. These consist of unusual facies (grooved, nasal tip, ptosis, malformed auricles), abnormal digits, and congenital heart and renal defects. These findings strongly resemble the NFDR syndrome, first described by Freire-Maia et al.
Rump
P
P
Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
Gruijters
M Y
MY
Van der Burgt
C J
CJ
D000015:Abnormalities, Multiple; D000328:Adult; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D007668:Kidney / Q000002:abnormalities*; D013577:Syndrome