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Heterogeneity and variability in the oral-facial-digital syndromes.
Toriello HV. Toriello HV. Am J Med Genet Suppl. 1988;4:149-59. doi: 10.1002/ajmg.1320310515. Am J Med Genet Suppl. 1988. PMID: 3144982 Review.
Based on more or less subtle clinical differences, at least seven causally different entities can be identified in this group. These include 1) oral-facial-digital syndrome (OFDS) I; 2) Mohr syndrome (OFDS II); 3) OFDS III; 4) OFDS with tibial anomalies (OFDS IV); 5 …
Based on more or less subtle clinical differences, at least seven causally different entities can be identified in this group. These include …
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Monroe GR, Kappen IF, Stokman MF, Terhal PA, van den Boogaard MH, Savelberg SM, van der Veken LT, van Es RJ, Lens SM, Hengeveld RC, Creton MA, Janssen NG, Mink van der Molen AB, Ebbeling MB, Giles RH, Knoers NV, van Haaften G. Monroe GR, et al. Eur J Hum Genet. 2016 Dec;24(12):1752-1760. doi: 10.1038/ejhg.2016.103. Epub 2016 Aug 17. Eur J Hum Genet. 2016. PMID: 27530628 Free PMC article.
We investigated the molecular basis of disease in two brothers with OFD type II, Mohr syndrome, by performing single-nucleotide polymorphism (SNP)-array analysis on the brothers and their healthy parents to identify homozygous regions and candidate genes. ...In conc …
We investigated the molecular basis of disease in two brothers with OFD type II, Mohr syndrome, by performing single-nucleotid …
Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations.
Sakai N, Nakakita N, Yamazaki Y, Ui K, Uchinuma E. Sakai N, et al. J Craniofac Surg. 2002 Mar;13(2):321-6. doi: 10.1097/00001665-200203000-00028. J Craniofac Surg. 2002. PMID: 12000897
The oral-facial-digital syndromes (OFDS) represent a heterogenous group of disorders characterized by oral malformation, facial anomalies, and digital anomalies. Type II OFDS was reported by Mohr in 1941. Mohr syndrome is an autosomal recessive inherited disease cha …
The oral-facial-digital syndromes (OFDS) represent a heterogenous group of disorders characterized by oral malformation, facial anomalies, a …
Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings.
Prpić I, Cekada S, Franulović J. Prpić I, et al. Clin Genet. 1995 Dec;48(6):304-7. doi: 10.1111/j.1399-0004.1995.tb04114.x. Clin Genet. 1995. PMID: 8835325
He did not have syndactylous reduplication of the great toes, although the toes were disproportionately large. These two patients are classified as OFD type II-Mohr syndrome. Involvement of the central nervous system in OFD type II is noted. ...The patients describe …
He did not have syndactylous reduplication of the great toes, although the toes were disproportionately large. These two patients are classi …
Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome.
Lindeboom JA, Kroon FH, de Vires J, van den Akker HP. Lindeboom JA, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003 Apr;95(4):458-62. doi: 10.1067/moe.2003.35. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003. PMID: 12686930
On the basis of their clinical features and the inheritance pattern, 2 variants were initially distinguished, namely OFDS type I (Papillon-Leage and Psaume) and OFDS type II, or Mohr syndrome. At present, 11 types of OFDS have been discovered. ...
On the basis of their clinical features and the inheritance pattern, 2 variants were initially distinguished, namely OFDS type I (Papillon-L …
Further heterogeneity of the oral-facial-digital syndromes.
Townes PL, Wood BP, McDonald JV. Townes PL, et al. Am J Dis Child. 1976 May;130(5):548-54. doi: 10.1001/archpedi.1976.02120060094018. Am J Dis Child. 1976. PMID: 179315
Previously, bilateral hallucal polysyndactyly was considered to be a distinctive feature of OFD II, Mohr syndrome. The original classification of OFD II was based on clinical similarities between the affected members of the Mohr-Claussen kindred and the two siblings …
Previously, bilateral hallucal polysyndactyly was considered to be a distinctive feature of OFD II, Mohr syndrome. The origina …
Short rib-dysplasia group (with/without polydactyly): report of a patient suggesting the existence of a continuous spectrum.
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Bolgiani MP. Franceschini P, et al. Am J Med Genet. 1995 Nov 20;59(3):359-64. doi: 10.1002/ajmg.1320590316. Am J Med Genet. 1995. PMID: 8599362
We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma-Naumoff, Beemer, and Jeune. ...
We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Maje …