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Year Number of Results
2017 2
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2021 3
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2026 3

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Page 1
Surgical Management of Craniomaxillofacial Features in the Otopalatodigital Spectrum Disorders.
Roland-Billecart T, Schlund M, Lauwers L, Nicot R, Ferri J. Roland-Billecart T, et al. J Craniofac Surg. 2021 Nov-Dec 01;32(8):2823-2826. doi: 10.1097/SCS.0000000000007707. J Craniofac Surg. 2021. PMID: 34183625
Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrome spectrum disorders are a group of rare congenital skeletal dysplasia, with specific craniomaxillofacial features including otopalat …
Otopalatodigital syndrome spectrum disorders are caused by Filamin A (FLNA) gene mutations. Otopalatodigital syndrom …
Otopalatodigital Syndrome Type 2: A Case Report.
Wagner SA. Wagner SA. Neonatal Netw. 2026 Feb 25;45(1):18-26. doi: 10.1891/NN-2025-0026. Neonatal Netw. 2026. PMID: 41748205
Otopalatodigital syndrome type 2 (OPD2) is a rare, typically lethal X-linked congenital disorder associated with craniofacial, skeletal, and visceral malformations. ...
Otopalatodigital syndrome type 2 (OPD2) is a rare, typically lethal X-linked congenital disorder associated with craniofacial, …
Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis.
Handa A, Grigelioniene G, Nishimura G. Handa A, et al. Radiographics. 2023 May;43(5):e220067. doi: 10.1148/rg.220067. Radiographics. 2023. PMID: 37053103
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita family, and Larsen syndrome-otopalatodigital syndrome family. Since Spranger's proposal, the concept of bone dysplasia …
The prototypes of bone dysplasia families include dysostosis multiplex family, achondroplasia family, spondyloepiphyseal dysplasia congenita …
Phenotype Analysis in Two Families With Otopalatodigital Syndrome Spectrum Disorder Based on FLNA Gene Variants.
Schwarz M, Fišer M, Šodková L, Míšová E, Drahanský M, Vokálek T, Michalovská R, Matějková A, Jindrová J, Bendová Š, Macek M Jr. Schwarz M, et al. Clin Genet. 2026 Mar;109(3):546-551. doi: 10.1111/cge.70056. Epub 2025 Aug 30. Clin Genet. 2026. PMID: 40884164
Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and frontometaphyseal dysplasia (FMD), are rare X-linked disorders caused by FLNA gene variants, with phenotypes ranging from mild skeletal anomalies …
Otopalatodigital spectrum disorders (OPDSD), comprising otopalatodigital syndromes types 1 and 2 (OPD1, OPD2) and front …
Cleft lip in oto-palato-digital syndrome type I.
Kusajima EG, Maeda T, Murao N, Funayama E, Yamamoto Y. Kusajima EG, et al. Congenit Anom (Kyoto). 2021 May;61(3):103-104. doi: 10.1111/cga.12409. Epub 2021 Feb 14. Congenit Anom (Kyoto). 2021. PMID: 33476089 No abstract available.
Clinical Experience of Treatment of Facial Malformations in Oto-Palato-Digital Syndrome: A Familial Patient.
Kira-Koizumi T, Mitsukawa N, Morishita T, Akita S, Kubota Y, Satoh K. Kira-Koizumi T, et al. J Craniofac Surg. 2017 Jun;28(4):1068-1070. doi: 10.1097/SCS.0000000000003509. J Craniofac Surg. 2017. PMID: 28538061
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial appearances and skeletal alterations. ...
Oto-palato-digital syndrome type 1 (OPD1) is an X-linked recessive disorder comprising characteristic facial app …
13 results