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Otopalatodigital syndrome type 2 in a male infant: A case report with a novel sequence variation.
Sankararaman S, Kurepa D, Shen Y, Kakkilaya V, Ursin S, Chen H. Sankararaman S, et al. J Pediatr Genet. 2013 Mar;2(1):33-6. doi: 10.3233/PGE-13045. J Pediatr Genet. 2013. PMID: 27625837 Free PMC article.
We report a male infant with typical clinical, pathological and radiological features of otopalatodigital syndrome type 2 (OPD 2) with a novel sequence variation in the FLNA gene. ...
We report a male infant with typical clinical, pathological and radiological features of otopalatodigital syndrome type …
X-Linked Otopalatodigital Spectrum Disorders.
Robertson S. Robertson S. 2005 Nov 30 [updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Nov 30 [updated 2019 Oct 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301567 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphysea …
CLINICAL CHARACTERISTICS: The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include t …
Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings.
Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Mariño-Enríquez A, et al. Am J Med Genet A. 2007 May 15;143A(10):1120-5. doi: 10.1002/ajmg.a.31696. Am J Med Genet A. 2007. PMID: 17431908
Otopalatodigital syndrome type 2 (OPD2) is an uncommon X-linked condition characterized by dysmorphic facies, a skeletal dysplasia affecting the axial and appendicular skeleton and extraskeletal anomalies including malformations of the brain, heart, ge …
Otopalatodigital syndrome type 2 (OPD2) is an uncommon X-linked condition characterized by dysmorphic facies, a …
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
Verloes A, Lesenfants S, Barr M, Grange DK, Journel H, Lombet J, Mortier G, Roeder E. Verloes A, et al. Am J Med Genet. 2000 Feb 28;90(5):407-22. doi: 10.1002/(sici)1096-8628(20000228)90:5<407::aid-ajmg11>3.0.co;2-d. Am J Med Genet. 2000. PMID: 10706363
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes, brachydactyly, and impaired survival. ...The excep …
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprise …
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2.
Murphy-Ryan M, Babovic-Vuksanovic D, Lindor N. Murphy-Ryan M, et al. Am J Med Genet A. 2011 Apr;155A(4):855-9. doi: 10.1002/ajmg.a.33901. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21412975
We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and unusual clinical features including bifid tongue and congenital corneal clouding. ...
We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA …
Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes.
Katz LA, Schultz RE, Semina EV, Torfs CP, Krahn KN, Murray JC. Katz LA, et al. Am J Med Genet A. 2004 Oct 15;130A(3):277-83. doi: 10.1002/ajmg.a.30329. Am J Med Genet A. 2004. PMID: 15378534
Mutations in FLNA have been shown to cause a broad range of congenital malformations, including otopalatodigital syndrome type 2 in which a missense mutation occurring in exon 5 of FLNA results in omphalocele as part of the phenotype. ...
Mutations in FLNA have been shown to cause a broad range of congenital malformations, including otopalatodigital syndrome t …
Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.
Santos HH, Garcia PP, Pereira L, Leão LL, Aguiar RA, Lana AM, Carvalho MR, Aguiar MJ. Santos HH, et al. Am J Med Genet A. 2010 Mar;152A(3):726-31. doi: 10.1002/ajmg.a.33260. Am J Med Genet A. 2010. PMID: 20186808
It has been claimed that MNS constitutes part of a spectrum including frontometaphyseal dysplasia, otopalatodigital syndrome type 1 (OPD1) and otopalatodigital syndrome type 2 (OPD2). These conditions are produced by different mutations in the filamin …
It has been claimed that MNS constitutes part of a spectrum including frontometaphyseal dysplasia, otopalatodigital syndrome type 1 (OPD1) a …
11 results