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Bir vaka nedeniyle Corneli de Lange sendronıu (Brachmann-de Lange sendromu)

On the occasion of a case Cornelia de Lange syndrome (Brachmann-de Lange syndrome)

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 1995

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Cornelia de Lange Syndrome is a very rare developmental malformation syndrome of unknown etiology. The main features of this syndrome are a characteristic dysmorphic face and short stature. Because of rarity of this case, a 3-year-old boy with Cornelia de Lange Syndrome is presented in this report. /.Journal of Turgut Özal Medical Center 2(l):62-64.1995j
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Abstract (Original Language): 
Cornelia de Lange Sene/romu çok nadir görülen, başlıca boy kısalığı ve tipik dısmorfık yüz görünümü ile karakterize olan, etyolofısı tam olarak bilinmeyen bir seıulromdur. Sail ir görülmesi nedeniyle 3 yaşındaki böyle bir olgu sunuldu. /Turgut Özal Tıp Merkezi Dergisi 2< I ):62-64.1995/
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  • 1
62-64
  • Turkish

REFERENCES

References: 

1. Jones K.L. Smith's Recognizable Patterns of Human Malformation; Philadelphia: WB Saunders 1988. 76-7.
2. Tunnessen WW. Common Syndromes With Morphologic Abnormalities. In. Oski FA, Deangelis CD, Feigin RD, McMillan J A. Warshaw JB, editors. Principles and Practice of Pediatrics. Philadelphia: JB Lippincott, 1994: 2182-3.
3. Levin AV, Seidman DJ, Nelson LB, Jackson LG. Ophthalmologic findings in the Cornelia de Lange syndrome. J Pediatr Ophthalmol Strabismus 1990; 27: 94-102.
4. Kline AD, Barr M, Jackson LG. Growth manifestations in the Brachmann-de Lange syndrome. Am J Med Genet 1993; 47(7): 1042-9.
5. Cates M, Billmire DF, Bull MJ, Grosfeld JL. Gastroesophageal dysfunction in Cornelia de Lange syndrome. J Pediatr Surg 1989; 24(3): 248-50.
6. Marres HA, Cremers CW, Jongbloet PH. Hearing levels in the Cornelia de Lange syndrome. A report of seven cases. Int J Pediatr Otorhinolaryngol 1989; 18(1): 31-7.
7. Goodban MT. Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome. Am J Med Genet 1993; 47: 1059-63
8. Sataloff RT, spiegel JR, Hawkshaw M, Epstein JM, Jackson L. Cornelia de Lange syndrome. Otolaryngologic manifestations. Arch Otolaryngol Head Neck Surg. 1990; 116(9): 1044-6
9. Ireland M, Burn J. Cornelia de Lange syndrome-photo essay. Clm Dysmorphol 1993; 2. 151-60.

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