GİZEM İREM KINIKLI, Gözde GÜR, Akmer MUTLU, Mintaze Kerem GÜNEL, YASEMİN ALANAY

Early physiotherapy Interventions in a case with the Say/Barber/Biesecker/Young-Simpson type of Ohdo Syndrome and arthrogryposis multiplex congenita

Young-Simpson sendromu (YSS) ilk kez Young ve Simpson tarafından hipotiroidizm, konjenital kalp hastal ığı, ciddi mental retardasyon ve fasiyal dismorfizmli bir hastada rapor edilmiştir. Nadir görülen insidansından dolayı YSS için fizyoterapinin erken dönem etkileri hakk ında çok az şey bilinmektedir. Bu olgu sunumu, Ohdo Sendromu’nun Say/Barber/Biesecker/Young-Simpson tipinin klinik özelliklerini gösteren 7 aylık bir kız bebekte, erken dönem fizyoterapi uygulamalarının sonuçlarını sunmaktad ır. Vaka, aynı zamanda artrogripozis multipleks konjenita (AMK) ek tanısıyla literatürdeki ilk olgudur. Bunun yanı sıra, Ohdo Sendromu’nun Say/Barber/ Biesecker/ Young-Simpson tipinin Türkiye’de rapor edilen ilk olgusudur. Olgu, nörogelişimsel tedavi yaklaşımı ve seri ortezleme prensipleri temel alınarak tedavi ve takip edilmiştir. Erken fizyoterapi uygulamalarıyla, Ohdo Sendromu’nun Say/Barber/Biesecker/Young-Simpson tipi ve AMK tanılı bir olguda gelişim bozukluğu ve eklem kontraktürlerinde olumlu gelişmeler kaydedilebilinir.

Anahtar Kelimeler:

Kadın, Süt çocuğu, Anomaliler, çoklu, Artrogripoz, Ortotik aletler, Fizik tedavi yöntemleri

Ohdo Sendromu’nun Say/Barber/Biesecker/Young- Simpson tipi ile birlikte artrogripozis multipleks konjenita (AMK) tanılı bir olguda erken fizyoterapi uygulamaları

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.

Keywords:

Female, Infant, Abnormalities, Multiple, Arthrogryposis, Orthotic Devices, Physical Therapy Modalities,

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