Agenesis of the corpus callosum in Schinzel-Giedion syndrome associated with 47,XXY karyotype
Küçük Resim Yok
Tarih
1996
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Munksgaard Int Publ Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
The Schinzel-Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and congenital hydronephrosis and/or hydroureter. We report a male infant with Schinzel-Giedion syndrome, also showing the karyotypic abnormality 47,XXY. Agenesis of the corpus callosum and laryngeal stenosis were determined at autopsy. Besides typical Schinzel-Giedion syndrome, our propositus was found to be affected by Klinefelter syndrome. This represents a fortuitous anomaly, which is probably of no importance in the phenotype of the patient.
Açıklama
Anahtar Kelimeler
abnormalities, multiple, bone and bones, abnormalities, hydronephrosis, congenital, brain, abnormalities, infant, newborn, syndrome
Kaynak
Clinical Genetics
WoS Q Değeri
N/A
Scopus Q Değeri
Q1
Cilt
50
Sayı
3
