A NEW SYNDROME PRESENTING WITH DYSMORPHIC FACIES, OCULOCUTANEOUS ALBINISM, GLAUCOMA, CRYPTORCHIDISM AND MENTAL RETARDATION
Tarih
2011Yazar
Guven, G.
Yılmaz, Şafak
Yuksel, A.
Yosunkaya, E.
Karaca, E.
Seven, Mehmet
Üst veri
Tüm öğe kaydını gösterÖzet
A new syndrome presenting with dysmorphic facies, oculocutaneous albinism, glaucoma, cryptorchidism and mental retardation: We report a case with a new syndrome that presents with glaucoma, cryptorchidism, oculocutaneous albinism, ataxia, hypotonia, autistic behaviour besides various major and minor craniofacial dysmorphic, skeletal, and neuroimaging findings, and suggest that this case represents a new syndrome not reported previously.
Koleksiyonlar
- Makale [92796]