Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.
We report on further clinical findings in the one single family in the literature classified as oral-facial-digital (OFD) type VII in order to demonstrate that the diagnosis in this kindred should, in fact, be OFD type I. The mother and the daughter described in the original report have since developed polycystic kidney disease. In addition, the daughter recently had a daughter of her own with central nervous system, oral and digital anomalies. Linkage studies have shown that all the affected women share the same haplotype across the previously identified region Xp22.2p22.3 to which OFD I maps. Although the pedigree was too small for a significant lod score, the combination of clinical and molecular information clearly shows that the disease in this family is OFD I. We report this family in order to clarify and simplify the classification of the oral-facial-digital syndrome spectrum and to recommend the removal of OFD VII from the classification system of the oral-facial-digital syndromes.
Nowaczyk
Malgorzata J M
MJ
Department of Pediatrics, McMaster University Medical Center, 1200 Main Street West, Hamilton, Ontario, Canada L8S 4J9. nowaczyk@hhsc.ca
Zeesman
Susan
S
Whelan
Donald T
DT
Wright
Victoria
V
Feather
Sally A
SA
D000015:Abnormalities, Multiple; D000328:Adult; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008279:Magnetic Resonance Imaging; D018895:Microsatellite Repeats / Q000235:genetics; D009958:Orofaciodigital Syndromes / Q000145:classification* / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D007690:Polycystic Kidney Diseases / Q000150:complications*