Cerebro-facio-thoracic dysplasia: expanding the phenotype

Cilliers D., ALANAY Y., BODUROĞLU O. K., Utine E., Tuncbilek E., Clayton-Smith J.

CLINICAL DYSMORPHOLOGY, cilt.16, sa.2, ss.121-125, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 2
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1097/mcd.0b013e328012e292
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.121-125
  • Anahtar Kelimeler: cerebro-facio-thoracic dysplasia, corpus callosum hypoplasia, optic nerve coloboma, CEREBROFACIOTHORACIC DYSPLASIA
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal recessive condition with thoracic costovertebral dysplasia, developmental delay and characteristic facial features. One of our patients has the additional features of large, bilateral colobomas of the optic nerve, ptosis, small conical teeth and severe left-sided talipes. He also has hypermobile joints, especially in his hands and anterior subluxation of the shoulders. The second patient has hypodensity of the grey matter on magnetic resonance imaging, which is the second report of this finding in cerebro-facio-thoracic dysplasia. In addition, he has hypoplasia of the corpus callosum. These cases illustrate the expanding phenotype of this condition, and support the hypothesis that this is an autosomal recessive condition.