The Young-Simpson syndrome (YSS) and 1p36 deletion syndrome are both characterized by facial and heart abnormalities, congenital hypothyroidism, and severe growth and developmental retardation. However, the YSS is characterized by the presence of blepharophimosis and epicanthus inversus, findings not described in monosomy 1p36 patients. We describe a girl with YSS, who presented with the typical facial findings, global retardation, congenital hypothyroidism, and congenital dilated cardiomyopathy. Comparative genomic hybridization chromosomal microarray analysis showed a 1p36.3 deletion, a finding not previously reported in other YSS cases. We propose that YSS is a variant of the 1p36 deletion syndrome.
[Show abstract][Hide abstract] ABSTRACT: ZET Ohdo Sendromu'nun Say/Barber/Biesecker/Young-Simpson tipi ile birlikte artrogripozis multipleks konjenita (AMK) tanılı bir olguda erken fizyoterapi uygulamaları Young-Simpson sendromu (YSS) ilk kez Young ve Simpson tarafndan hipotiroidizm, konjenital kalp has-talğ, ciddi mental retardasyon ve fasiyal dismorfizmli bir hastada rapor edilmiştir. Nadir görülen insidansndan dolay YSS için fizyoterapinin erken dönem etkileri hak-knda çok az şey bilinmektedir. Bu olgu sunumu, Ohdo Sendromu'nun Say/Barber/Biesecker/Young-Simpson tipinin klinik özelliklerini gösteren 7 aylk bir kz bebekte, erken dönem fizyoterapi uygulamalarnn sonuçlarn sunmak-tadr. Vaka, ayn zamanda artrogripozis multipleks kon-jenita (AMK) ek tansyla literatürdeki ilk olgudur. Bunun yan sra, Ohdo Sendromu'nun Say/Barber/ Biesecker/ Young-Simpson tipinin Türkiye'de rapor edilen ilk olgu-sudur. Olgu, nörogelişimsel tedavi yaklaşm ve seri ortezleme prensipleri temel alnarak tedavi ve takip edilmiştir. Erken fizyoterapi uygulamalaryla, Ohdo Send-romu'nun Say/Barber/Biesecker/Young-Simpson tipi ve AMK tanl bir olguda gelişim bozukluğu ve eklem kontraktürlerinde olumlu gelişmeler kaydedilebilinir. ABSTRACT The Say/Barber/Biesecker/Young-Simpson type of Ohdo Syndrome (YSS) was first reported by Young and Simpson in a patient with hypothyroidism, congenital heart disease, severe mental retardation, and facial dysmorphism. The early effects of physiotherapy for YSS are poorly known because of its rare incidence. This case report presents the results of early physiotherapy interventions in a 7-month-old girl with the clinical features of The Say/Barber/Biesecker/Young-Simpson type of Ohdo Syndrome (YSS). The case is unique in the literature with the additional diagnosis of arthrogryposis multiplex congenita (AGMC). In addition, this is the first case report of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome from Turkey. The patient was treated and followed up based on neurodevelopmental therapy (NDT) and serial orthosis principles. We suggest that early physiotherapy interventions for an infant with YSS and AGMC can result in improvements in growth deficiency and knee joint contractures.
[Show abstract][Hide abstract] ABSTRACT: Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by facial dysmorphism, congenital heart abnormalities, congenital hypothyroidism and severe growth retardation. A 5-month-old girl was scheduled to undergo patch closure of atrial septal defect. She had been diagnosed with YSS preoperatively. We report out clinical experience of a case of YSS patient with brief review of related literatures and relevant anesthetic problems.
Korean journal of anesthesiology 02/2009; 56(2). DOI:10.4097/kjae.2009.56.2.225
[Show abstract][Hide abstract] ABSTRACT: We report on the clinical, neuropsychological and language characteristics of a boy with left ventricular noncompaction cardiomyopathy (LVNC), agenesis of the splenium of the corpus callosum, minor anomalies of face and limbs, mild mental retardation, and speech and language disabilities. The occurrence of pilomatricoma (calcifying epithelioma) may be part of the clinical spectrum or a fortuitous finding. Compared to other related conditions with LVNC suggests that this is a "new" unique pattern MCA/MR syndrome.
American Journal of Medical Genetics Part A 05/2009; 149A(5):1041-5. DOI:10.1002/ajmg.a.32787 · 2.16 Impact Factor
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