The Association of Carpenter Syndrome and Situs Inversus Totalis: First Case Report
Küçük Resim Yok
Tarih
2011
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
ORTADOGU AD PRES & PUBL CO
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder that classically consists of acrocephaly, facial dysmorphism, mental retardation, congenital heart disease and hypogenitalism. To the best of our knowledge, situs inversus totalis has not been demonstrated previously in Carpenter syndrome. We report here a 6-day-old boy with many abnormalities diagnosed clinically and also having situs inversus totalis. As far as we know, this is the first Carpenter syndrome case associated with situs inversus totalis in the literature.
Açıklama
Anahtar Kelimeler
Situs inversus, craniosynostoses, mental retardation, craniofacial abnormalities, syndactyly
Kaynak
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
WoS Q Değeri
Q4
Scopus Q Değeri
Q4
Cilt
31
Sayı
2