Four siblings with achalasia, alacrimia and neurological abnormalities in a consanguineous family
Küçük Resim Yok
Tarih
1996
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Munksgaard Int Publ Ltd
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Four siblings with achalasia, alacrimia and other problems involving the autonomic nervous system involvements are reported. Achalasia and alacrimia were present in all of them. Their parents are first cousins and have four other healthy children. Electrophysiological tests showed that autonomic dysfunction has progressed with age. Blood cortisol levels were normal in all four affected children. Depending on these findings of our cases and previous reports, we conclude that triple-A syndrome and achalasia, alacrimia with or without neurological abnormalities could be variable manifestations of the same autosomal recessive gene defect.
Açıklama
Anahtar Kelimeler
achalasia, alacrimia, autosomal recessive inheritance, familial dysautonomia (Riley-Day syndrome), glucocorticoid deficiency
Kaynak
Clinical Genetics
WoS Q Değeri
N/A
Scopus Q Değeri
Q1
Cilt
49
Sayı
6
