Presentation
Broad thumbs and broad big toes are present in almost all cases. [ommbid.mhmedical.com]
Similar presentation was seen in our patient which probably makes our patient SRY positive. SRY-negative cases present at birth with features such as hypospadias and cryptorchidism. [asean-endocrinejournal.org]
Dauwerse et al. (2007) described a 35-year-old male of Indonesian descent who presented with short stature and infertility due to azoospermia. [omim.org]
[…] horizontal ramus of the mandible is pathognomonic may be associated with cleft palate and absence of parotid glands zygomatic arch: malformed, underdeveloped or absent otic microtia and aplasia of the external auditory meatus conductive hearing defects are present [radiopaedia.org]
Entire Body System
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Short Stature
Aliases & Classifications for Dauwerse-Peters Syndrome MalaCards integrated aliases for Dauwerse-Peters Syndrome: Name: Dauwerse-Peters Syndrome 57 53 Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 57 73 Short Stature, Facial [malacards.org]
Names and Terminology Other Names : Short stature, facial dysmorphism, severe brachydactyly and syndactyly ... Source: GARD (NIH) 1 ... ... [familydiagnosis.com]
Gudrun ; Mortier, Geert R ; Breuning, Martijn H ; Peters, Dorien JM Keywords: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, brachydactyly-syndactyly, O-acetyl transferase, MBOAT, t(4;6), MBOAT1, short [lirias.kuleuven.be]
Dauwerse et al. (2007) described a 35-year-old male of Indonesian descent who presented with short stature and infertility due to azoospermia. [omim.org]
stature Deafness, femoral epiphyseal dysplasia, short stature and developmental delay - See Deafness, epiphyseal dysplasia, short stature Deafness, isolated, due to mitochondrial transmission Deafness, myopia, cataract, saddle nose-Marshall type - See [herenciageneticayenfermedad.blogspot.com]
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Fishing
An interstitial submicroscopic deletion of this region is found in approximately 12 % of the patients, using two-color FISH and the cosmid RT1 (D16S237). [atlasgeneticsoncology.org]
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. [atlasgeneticsoncology.usal.es]
Of the microdeletions discovered, the detections were made by FISH and cosmic probes, which has become the state-of-the-art objective confirmation of clinical diagnosis in new patients (Breuning et al, 1993). [slideshare.net]
Fluorescent in situ hybridization (FISH) to determine presence of SRY gene on X chromosome of patient was planned but patient could not get it done due to financial constraints. Click here to download Figure 3 Figure 3. Karyotyping of patient. [asean-endocrinejournal.org]
1994] by FISH analysis using RT1 cosmid probe (provided byLyden University) including CBP, but molecular studies to TABLE I. [fdocument.pub]
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Death in Infancy
FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. [atlasgeneticsoncology.usal.es]
Gene Name CREBBP (CREB binding protein) Location 16p13.3 Protein FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. [atlasgeneticsoncology.org]
FISH studies in 45 patients with Rubinstein-Taybi syndrome:deletions associated with polysplenia, hypoplastic left heart and death in infancy. European Journal of Human Genetics: 748-56, 1999 Oct-Nov. Berry, A.C.: Rubinstein-Taybi syndrome. [slideshare.net]
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Pain
[…] disease Dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency Dehydrated hereditary stomatocytosis Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema Dejerine Roussy syndrome (former) - See Central pain [herenciageneticayenfermedad.blogspot.com]
The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. [ndltd.ncl.edu.tw]
At our center, a group of 14 psychologists provides longitudinal therapy to cope with the many stages of treatment and lays the foundations for the fight against pains of repeated offenses in the social and school environment. [scielosp.org]
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Multiple Congenital Anomalies
(Br J Ophthalmol 2000;84:1177–1184) PATIENTS Rubinstein-Taybi syndrome (RTs) is a well known mental retardation—multiple congenital anomalies syndrome, first described in 1957, but well delineated by Rubinstein and Taybi in 1963.1 The incidence has been [zdoc.site]
Summary RSTS is an extremely rare multiple congenital anomaly/intellectual disability syndrome, with an estimated prevalence of one case per 125,000 live births. [ijponline.biomedcentral.com]
Cardiovascular
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Hypertension
The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. [ndltd.ncl.edu.tw]
Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome. Korean J Pediatr. 2012; 55 :212–14. doi: 10.3345/kjp.2012.55.6.212. [ PMC free article ] [ PubMed ] [ CrossRef ] [ Google Scholar ] 53. [ncbi.nlm.nih.gov]
Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome. Korean J Pediatr. 2012;55:212–14. PubMed Central PubMed View Article Google Scholar Bayle P, Bazex J, Lamant L, Lauque D, Durieu C, Albes B. [ijponline.biomedcentral.com]
Musculoskeletal
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Brachydactyly
Dysmorphism, Severe Brachydactyly and Syndactyly 53 Classifications: Summaries for Dauwerse-Peters Syndrome MalaCards based summary : Dauwerse-Peters Syndrome, is also known as short stature, facial dysmorphism, severe brachydactyly, and syndactyly. [malacards.org]
Names and Terminology Other Names : Short stature, facial dysmorphism, severe brachydactyly and syndactyly ... Source: GARD (NIH) 1 ... ... [familydiagnosis.com]
Identification of the transferred acyl group and the target may reveal the signaling pathways altered in this novel brachydactyly-syndactyly syndrome. [lirias.kuleuven.be]
He had extreme brachydactyly of both hands and to a lesser degree of both feet, and had partial cutaneous syndactyly between the second and third fingers on his right hand. [omim.org]
222600 Diastrophic Dysplasia; DTD OMIM:222690 Dibasic Amino Aciduria I OMIM:222730 Dicarboxylic Aminoaciduria; DCBXA OMIM:188400 DiGeorge Syndrome; DGS OMIM:601362 Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 OMIM:606835 Digital Arthropathy-Brachydactyly [informatics.jax.org]
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Long Arm
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 2006;86(2):463.e1–463.e5. [doi: 10.1016/j.fertnstert.2005.12.062] 7. de la Chapelle A, Hästbacka J, Korhonen T, Mäenpää J. [m.apamedcentral.org]
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 2006; 86: 463.e2-e5. 5. Kojima Y, Hayashi Y, Mizuno K, Sasaki S, Fukui Y, Koopman P, Morohashi K, Kohri K. [mjcu.or.kr]
All males with this phenotype genotype mismatch are azoospermic, due to the absence of long arm of Y chromosome containing Azoospermia Factor gene (AZF), which is responsible for normal spermatogenesis. [asean-endocrinejournal.org]
The 85% of individuals, ADPKD are caused by mutations in the gene PKD1.PKD1 gene is located on the short arm of chromosome 16 (16p13.3), the resting 15% patients are found mutations in PKD2 gene that is located on the long arm of chromosome 4 (4q21). [ndltd.ncl.edu.tw]
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 2006 ;86: 463.e1 – 463.e5. Google Scholar ISI 187. [journals.sagepub.com]
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Skeletal Dysplasia
(Limb Malformations & Skeletal Dysplasia) A case was described in 1957 by Michail, Matsoukas and Theodorou. [3] In 1963, Jack Herbert Rubinstein (1925–2006) and Hooshang Taybi (1919–2006) described a larger series of cases. [4] Typical features of the [en.wikipedia.org]
dysplasia lip granuloma Deafness vitiligo achalasia Deafness white hair contractures papillomas Deafness with labyrinthine aplasia microtia and microdontia (LAMM) Deafness X-linked DFN3 Deafness autosomal dominant nonsyndromic sensorineural 17 Deafness [personalizedcause.com]
[…] deficiency, combined 3 Deafness, sensorineural, with imperforate anus and hypoplastic thumbs - See Townes-Brocks syndrome Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts - See Chudley-Mccullough syndrome Deafness, skeletal [herenciageneticayenfermedad.blogspot.com]
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Severe Brachydactyly
Dysmorphism, Severe Brachydactyly and Syndactyly 53 Classifications: Summaries for Dauwerse-Peters Syndrome MalaCards based summary : Dauwerse-Peters Syndrome, is also known as short stature, facial dysmorphism, severe brachydactyly, and syndactyly. [malacards.org]
Names and Terminology Other Names : Short stature, facial dysmorphism, severe brachydactyly and syndactyly ... Source: GARD (NIH) 1 ... ... [familydiagnosis.com]
Urogenital
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Renal Pain
The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. [ndltd.ncl.edu.tw]
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Renal Insufficiency
The manifestations of kidney in ADPKD include renal function abnormalities, hypertension, renal pain, and renal insufficiency. [ndltd.ncl.edu.tw]
Treatment
INTRODUCTION 6 1.1 Methodology 6 1.2 More information Infertility treatment In the name of God Infertility treatment Treatment options The optimal treatment is one that provide an acceptable success rate, has minimal risk and is costeffective. [healthdocbox.com]
The treatment of the most severe forms of TCS requires an average of 5 surgeries until the end of craniofacial growth 8 8. Kobus K, Wójcicki P. Surgical treatment of Treacher Collins syndrome. Ann Plast Surg 2006; 56(5):549-554.. [scielosp.org]
Treatment There is no specific treatment in RTS. Note Chromosome analysis is usually normal in RTS. Some cytogenetic rearrangements involving chromosome 16p13.3 have been described leading to the identification of the causing gene. [atlasgeneticsoncology.org]
Until the in vivo functionality of CBP is better defined, there is no available treatment for RTS. [ommbid.mhmedical.com]
Prognosis
Topics addressed include, but are not limited to: molecular genetic analysis, etiology, expressivity manifestations, phenotype observations, and lifespan prognosis 0 Comments 0 Likes Statistics Notes Be the first to like this Views Total views 1,377 On [slideshare.net]
Etiology
The etiology of maleness in XX men. Hum Genet 1981;58(1):105–116. [doi: 10.1007/BF00284157] 2. Hughes IA, Houk C, Ahmed SF, Lee PA. LWPES Consensus Group; ESPE Consensus Group. Consensus statement on management of intersex disorders. [m.apamedcentral.org]
The history of the etiological search for RSTS is a fascinating one whose timeline has been governed by medical technological advances. [slideshare.net]
The frequency, etiology and diagnosis of this syndrome are reviewed here. [asean-endocrinejournal.org]
The etiology of maleness in XX men. Hum Genet 1981; 58: 105-16. 2. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellousi M. Genetic evidence equating SRY and the testisdetermining factor. Nature 1990; 348: 448-50. 3. [mjcu.or.kr]
Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet 1977 ;11: 91 – 106. Google Scholar ISI 157. Ramos, ES, Moreira-Filho, CA, Vicente, YA. [journals.sagepub.com]
Pathophysiology
Authors’ Affiliations (1) Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milano, Italy (2) UO [ijponline.biomedcentral.com]
Prevention
Some mutations lead to the production of a very short, nonfunctional version of the p300 protein, while others prevent one copy of the gene from making any protein at all. [en.wikipedia.org]
[…] et al. [2003] recently proposed medical guidelines forRTS, but never mentioned malformations of the cervical spine.We would like to recommend medical geneticists to pay muchattention to the alignment of the cervical structure of RTSpatients for the prevention [fdocument.pub]
Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009; 17(3):275-283.. Another feature of extreme clinical relevance that may be present is deformity or absence of ears, called microtia or anotia. [scielosp.org]
Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent lifethreatening events and neurological deficits. [ncbi.nlm.nih.gov]
Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior. Ital J Pediatr 2012 ;38: 52. Google Scholar ISI 210. Geerts, M, Steyaert, J, Fryns, JP. The XYY syndrome: A follow-up study on 38 boys. [journals.sagepub.com]