A FEMALE-PATIENT WITH NEUROLOGICAL, FACIAL, DIGITAL AND RENAL ABNORMALITIES - ANOTHER CASE OF THE NEUROFACIODIGITORENAL (NFDR) SYNDROME

Authors
RUMP P GRUIJTERS MYC VANDERBURGT CJAM
Citation
P. Rump et al., A FEMALE-PATIENT WITH NEUROLOGICAL, FACIAL, DIGITAL AND RENAL ABNORMALITIES - ANOTHER CASE OF THE NEUROFACIODIGITORENAL (NFDR) SYNDROME, Clinical dysmorphology, 6(4), 1997, pp. 337-340
Citations number
6
Categorie Soggetti
Genetics & Heredity
Journal title
Clinical dysmorphology → ACNP
ISSN journal
09628827
Volume
6
Issue
4
Year of publication
1997
Pages
337 - 340
Database
ISI
SICI code
0962-8827(1997)6:4<337:AFWNFD>2.0.ZU;2-V
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 hea rt and renal defects. These findings strongly resemble the NFDR syndro me, first described by Freire-Maia ed al. (1982): Am J Med Genet 11: 3 29-336.