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Oto-Palato-digital syndrome type 1

Known as: Otopalatodigital syndrome, type 1, syndrome taybi, OPD I SYNDROME 
A rare, X-linked dominant inherited syndrome caused by mutations in the FLNA gene. It is characterized by hearing loss caused by malformations in the… 
National Institutes of Health

Related topics

Related topics

17 relations
Accessory carpal bonesCleft PalateConductive hearing lossCongenital omphalocele

Broader (3)

Congenital Hand DeformitiesCraniofacial AbnormalitiesOsteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
A cross-sectional study of awareness regarding dog bite and its management in rural community of Maharashtra
Background: Rabies is an enzootic and epizootic disease worldwide. In India it is estimated that the number of death due to… 
2007
2007
A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation
AbstractWe report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at… 
2006
2006
Periodontal disease in a Rubinstein-Taybi syndrome patient: case report.
INTRODUCTION Rubinstein-Taybi syndrome (RTS) is a rare disorder affecting 1 of 300,000 people, characterized by growth, mental… 
2006
2006
Breast feeding patterns in a military hospital.
OBJECTIVE To determine the status of breast feeding, exclusive breast feeding and other feeding patterns in infants upto 12… 
2005
2005
Rubinstein-Taybi syndrome: the changing face.
Rubinstein-Taybi syndrome is a rare multiple congenital anomaly (MCA) syndrome comprising mental and growth retardation, broad… 
1985
1985
Ocular manifestations in Kniest syndrome, Smith-Lemli-Opitz syndrome, Hallermann-Streiff-François syndrome, Rubinstein-Taybi syndrome and median cleft face syndrome.
In the pathology of malformations it is only in very few cases possible to identify a complete syndromal picture; the authors… 
1983
1983
Optical performance of a diffraction-limited molded-glass biaspheric lens.
Optical performance results are reported for a molded-glass biaspheric lens. The 6-mm optical diam lens is intended for use in a… 
1971
1971
Unexpected reduction and removal of an obturator in a patient with palate paralysis.
The speech prosthesis has proven to be a valuable and conservative treatment measure for children with palatal incompetence… 
1967
1967
The roentgenographic features of the oto-palato-digital (OPD) syndrome.
The roentgenographic features seen in 3 brothers with oto-palato-digital (OPD) syndrome are described and compared with those of… 
1966
1966
Brachydactyly, facial abnormalities, and mental retardation. Rubinstein-Taybi syndrome.
RUBINSTEIN and Taybi1in 1963, defined a syndrome seen in seven unrelated patients who were mentally retarded. These children had… 
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