PMID: 9354842

Issn Print: 0962-8827

Publication Date: 1997/10/01


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A female patient with neurological, facial, digital and renal abnormalities: another case of the neurofaciodigitorenal (NFDR) Syndrome?

P RUMP; M Y C GRUIJTERS; C J A M VAN DER BURGT

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Author Information: Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands

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Abstract

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.

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