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Quoted phrase not found in phrase index: "Orofacial-digital syndrome IV"
Page 1
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.
The oral-facial-digital syndromes are a heterogeneous group of conditions sharing oral, facial, and digital anomalies. Based on more or less subtle clinical differences, at least seven causally different entities can be identified in this group. These include …
The oral-facial-digital syndromes are a heterogeneous group of conditions sharing oral, facial, and digital anomalies. …
TCTN3 mutations cause Mohr-Majewski syndrome.
Thomas S, Legendre M, Saunier S, Bessières B, Alby C, Bonnière M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attié-Bitach T. Thomas S, et al. Am J Hum Genet. 2012 Aug 10;91(2):372-8. doi: 10.1016/j.ajhg.2012.06.017. Am J Hum Genet. 2012. PMID: 22883145 Free PMC article.
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach …
Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cav …
Medial tongue cleft associated with intraoral hamartoma--case report and review of literature.
Jank S, Kelderer HW, Raubenheimer EJ, Puelacher W. Jank S, et al. Int J Oral Maxillofac Surg. 2008 Mar;37(3):296-9. doi: 10.1016/j.ijom.2007.09.170. Epub 2007 Nov 26. Int J Oral Maxillofac Surg. 2008. PMID: 18035522 Review.
Median tongue clefts are reported to be only associated with orofacial digital syndromes type I, II, IV and VI. If the clinical appearance is described without any association to an orofacial syndrome, the Tessier 30 cleft definition coul …
Median tongue clefts are reported to be only associated with orofacial digital syndromes type I, II, IV and VI. …
Orofaciodigital syndrome with cerebral dysgenesis.
Lesca G, Fallet-Bianco C, Plauchu H, Vitrey D, Verloes A, Attia-Sobol J. Lesca G, et al. Am J Med Genet A. 2006 Apr 1;140(7):757-63. doi: 10.1002/ajmg.a.31144. Am J Med Genet A. 2006. PMID: 16502430
Orofaciodigital syndromes (OFD) are a group of diseases classified according to the phenotype and the mode of inheritance. ...On the right hemisphere as on most part of the left one, microscopic findings displayed a complete disruption of the developing mantle with …
Orofaciodigital syndromes (OFD) are a group of diseases classified according to the phenotype and the mode of inheritance. ... …
Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?
Okten A, Mungan L, Orhan F, Cakir M. Okten A, et al. Genet Couns. 2005;16(1):101-5. Genet Couns. 2005. PMID: 15844787
We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median c …
We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a gro …
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
Alamillo CL, Powis Z, Farwell K, Shahmirzadi L, Weltmer EC, Turocy J, Lowe T, Kobelka C, Chen E, Basel D, Ashkinadze E, D'Augelli L, Chao E, Tang S. Alamillo CL, et al. Prenat Diagn. 2015 Nov;35(11):1073-8. doi: 10.1002/pd.4648. Epub 2015 Aug 3. Prenat Diagn. 2015. PMID: 26147564
The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital syndrome 1 (OFD1), and RAPSN-associated fetal akinesia deformation sequence. ...
The provided diagnoses included osteogenesis imperfecta II (COL1A2), glycogen storage disease IV (GBE1), oral-facial-digital …
Orofaciodigital syndrome type IV: report of a patient.
Nevin NC, Thomas PS. Nevin NC, et al. Am J Med Genet. 1989 Feb;32(2):151-4. doi: 10.1002/ajmg.1320320202. Am J Med Genet. 1989. PMID: 2929654
We describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated tongue, pseudo-cleft of lip, pre- and postaxial polydactyly of hands and feet, severe talipes equinovarus, mesomelic limb shortness associa …
We describe a further patient with the orofaciodigital syndrome type IV. The clinical characteristics include lobulated …