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Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both.
Balci S, Güler G, Kale G, Söylemezoğlu F, Besim A. Balci S, et al. Prenat Diagn. 1999 Sep;19(9):827-31. Prenat Diagn. 1999. PMID: 10521839
Oral-facial digital syndrome type II (OFP syndrome II; orofaciodigital syndrome II) is a rare autosomal recessive syndrome, first described by Mohr (1941). We present two sisters with Mohr syndrome from a consanguineous family. One is a three-day-old female patient, …
Oral-facial digital syndrome type II (OFP syndrome II; orofaciodigital syndrome II) is a rare autosomal recessive syndrome, first described …
Oro-facial-digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases.
Silengo MC, Bell GL, Biagioli M, Franceschini P. Silengo MC, et al. Clin Genet. 1987 May;31(5):331-6. doi: 10.1111/j.1399-0004.1987.tb02817.x. Clin Genet. 1987. PMID: 3608220
Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-pol …
Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial …
Prenatal diagnosis of Mohr syndrome by ultrasonography.
Iaccarino M, Lonardo F, Giugliano M, Della Bruna MD. Iaccarino M, et al. Prenat Diagn. 1985 Nov-Dec;5(6):415-8. doi: 10.1002/pd.1970050607. Prenat Diagn. 1985. PMID: 3911193
A case of prenatal diagnosis of Mohr syndrome is presented. The ultrasound examination was indicated by the previous birth of an affected brother. ...
A case of prenatal diagnosis of Mohr syndrome is presented. The ultrasound examination was indicated by the previous birth of …
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 …
The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype.
Al-Qattan MM, Al Balwi MA. Al-Qattan MM, et al. Gene. 2013 Sep 10;526(2):471-3. doi: 10.1016/j.gene.2013.05.046. Epub 2013 Jun 1. Gene. 2013. PMID: 23732295
The gene mutation for oral-facial digital syndrome type II (Mohr syndrome) is unknown. We describe a Saudi female infant with Mohr syndrome. ...
The gene mutation for oral-facial digital syndrome type II (Mohr syndrome) is unknown. We describe a Saudi female infant with …
Mohr syndrome in two siblings.
Gencík A, Gencíkova A. Gencík A, et al. J Genet Hum. 1983 Dec;31(4):307-15. J Genet Hum. 1983. PMID: 6663289
The present study reports on two siblings of different sex, affected with a condition corresponding to Mohr syndrome. Characteristic symptoms such as epicanthic folds, a broad and flattened nasal root, a lobulated and hamartomatous tongue, poly- and syndactyly on bo …
The present study reports on two siblings of different sex, affected with a condition corresponding to Mohr syndrome. Characte …
Syndrome of polydactyly, cleft lip, lingual hamartomas, renal hypoplasia, hearing loss, and psychomotor retardation: variant of the Mohr syndrome or a new syndrome?
Mattei JF, Aymé S. Mattei JF, et al. J Med Genet. 1983 Dec;20(6):433-5. doi: 10.1136/jmg.20.6.433. J Med Genet. 1983. PMID: 6686259 Free PMC article.
This probably autosomal recessive syndrome could be a further example of the condition described by Varadi et al or a variant of the Mohr syndrome....
This probably autosomal recessive syndrome could be a further example of the condition described by Varadi et al or a variant of the Mohr …
Jeune syndrome with tongue lobulation and preaxial polydactyly, and Jeune syndrome with situs inversus and asplenia: compound heterozygosity Jeune-Mohr and Jeune-Ivemark?
Majewski E, Oztürk B, Gillessen-Kaesbach G. Majewski E, et al. Am J Med Genet. 1996 May 3;63(1):74-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<74::AID-AJMG15>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8723090
Radiologically this case shares manifestations with Jeune syndrome; the tongue lobulation and the preaxial polydactyly are similar to findings in Mohr syndrome, or short-rib polydactyly syndrome (SRPS), type Majewski. ...
Radiologically this case shares manifestations with Jeune syndrome; the tongue lobulation and the preaxial polydactyly are similar to findin …
15 results