FAQ

OTOPALATODIGITAL SYNDROME, TYPE II

Known as: OPD Syndrome 2, Oto-palato-digital syndrome, type 2, Cranioorodigital Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1974-2017
024619742017

Related topics

Related topics

23 relations
Cleft PalateConductive hearing lossCongenital omphaloceleCongenital pectus excavatum
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Broader (3)

Congenital Hand DeformitiesCraniofacial AbnormalitiesOsteochondrodysplasias

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
OTOPALATODIGITAL SYNDROME, TYPE II
Hip Dislocation, Congenital
Mental Retardation
Hydrocephalus
Cleft Palate
Hydronephrosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2013
2013
Quantification of branched-chain keto acids in tissue by ultra fast liquid chromatography-mass spectrometry.
Branched-chain keto acids (BCKAs) are associated with increased susceptibility to several degenerative diseases. However, BCKA… (More)
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2012
2012
Somatostatin receptor-mediated tumor-targeting drug delivery using octreotide-PEG-deoxycholic acid conjugate-modified N-deoxycholic acid-O, N-hydroxyethylation chitosan micelles.
In this study, a ligand-PEG-lipid conjugate, octreotide-polyethene glycol-deoxycholic acid (OCT(Phe)-PEG-DOCA, or OPD) was… (More)
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2012
2012
Assessing the level of structural integration using operationalized psychodynamic diagnosis (OPD): implications for DSM-5.
A key ingredient in the current proposal of the DSM-5 Work Group on Personality and Personality Disorders is the assessment of… (More)
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2011
2011
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.
X-linked periventricular nodular heterotopia (PH) is a neuronal migration disorder caused by mutations in the gene encoding… (More)
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2011
2011
Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2.
We report on a male infant with otopalatodigital syndrome type 2 (OPD2) associated with a novel c.514C>G FLNA mutation and… (More)
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2009
2009
Structure of the human filamin A actin-binding domain.
Filamin A (FLNa) is a large dimeric protein that binds to actin filaments via its actin-binding domain (ABD). The crystal… (More)
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2006
2006
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders
The otopalatodigital syndrome (OPD) spectrum disorders are a heterogeneous group of skeletal dysplasias caused by mutations in… (More)
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2006
2006
Distraction in a case of otopalatodigital syndrome type II.
INTRODUCTION Otopalatodigital syndrome type II is a rare X-linked recessive disorder with generalized skeletal dysplasia and… (More)
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2000
2000
Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia.
Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial… (More)
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1997
1997
Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male…
We report on 2 cases of otopalatodigital syndrome type II (OPD II) with atypical skeletal changes, overlapping those of boomerang… (More)
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