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TRIKORINOFALANGEAL (TRPSIII) SENDROMLU BİR OLGU SUNUMU

Journal Name:

  • İstanbul Tıp Fakültesi Dergisi

Publication Year:

  • 2000

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Tricho-rhino-phalangeal syndrome Type III, a case report. Tricho-rhino-pha\angea\ syndrome (TRPS I) has been deseribed by Giedion in 1966. The main findings of the syndrome are sparse, thin hair, a "pear shaped", bulbous nose and peripheral dysostosis (osteodyspla-sia with cone-shaped epiphysis). Inheritance is autosomal dominant with variable expressivity İn most famİlies, while some families suggest autosomal recessİve inheritance. Langer-Giedi-on Syndrome known as TRPS II has additional findings such as microccphaly, mental retarda-tion and multiple exostoses. TRPS III which has been deseribed by Sugio and Kajü in 1984, is much rarer. It can be distinguished from TRPS I by severe shortness of ali phalanges and me-tarcarpals, and from TRPS n by lack of exostoses and normal inielligence. Here we report a 14 5/12 years old girl who presented with sparse hair, bulbous nose and severe brachydactyly which is very suggestive of TRPS III.
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Abstract (Original Language): 
Tıicho-Rhino-Phalangeal Sendrom (TRPS ) Giedion tarafından 1966 yılında tanımlanmıştır. Sendromun temel bulguları seyrek, İnce saçlar, ucu bulböz belirgin burun yapısı ve periferüc dizostozdur (el ve ayaklarda koni şeklinde epifizler). Katılımı genelde ekspresivite değişkenliği gösteren otozomal dominant (OD) geçişe uymakla birlikte, otozomal resesif kalıtılaıı aileler de bildirilmiştir. Sendromun bir diğer tipi TRPS II olarak bilmen Langer- Giedion sendromu-dur. Bu tipte yukarıdaki bulgulara ek olarak mikrosefali, mental retardasyon ve multiple ek-zostozlar gözlenir. Sugİo ve Kajü tarafından 1984'te tanımlanan ve çok nadir olan TRPS İÜ ise TRPS l'e benzemekle birlikte, tüm falanks ve metakarplardaki aşın kısalıkla TRP I'den ve mental gerilik ve eksoztozlarm olmayışı ile de TRP ll'den farklıdır. Klinik bulguları ile TRPS IlI'e daha çok benzeyen 14 5/12 yaşındaki bir kız olgu sunulacaktır
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  • 1
94-99
  • Turkish

REFERENCES

References: 

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