Camptomelic dysplasia: A case report


TANRIVERDİ S., Bulut S., Aycicek R., ALTUN KÖROĞLU Ö., YALAZ M., Ozkinayay F., ...Daha Fazla

IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI, sa.1, ss.40-43, 2012 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Basım Tarihi: 2012
  • Doi Numarası: 10.5222/buchd.2012.040
  • Dergi Adı: IZMIR DR BEHCET UZ COCUK HASTANESI DERGISI
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.40-43
  • Manisa Celal Bayar Üniversitesi Adresli: Hayır

Özet

Skeletal dysplasias are hereditary diseases which are characterized with abnormally developed bones and connective tissues. Camptomelic dysplasia is a very rare skeletal dysplasia characterised by lethal outcome mainly during the neonatal period. This skletal dysplasia is characterized by bowed extremites most often of tibiae, scapula and clavicula hypoplasia, and vertebral abnormalities. Diagnosis of camptomelic dysplasia is usually based on clinical and radiographic findings. In many cases of camptomelic dysplasia, death occurs in the neonatal period due to breathing problems related to small chest size. We reported a newborn with camptomelic dysplasia diagnosed because of skeletal abnormalities.