A Hereditary Congenital Anomaly with Autosomal Recessive Transmission

نویسنده

  • SARAH NEVO
چکیده

Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported. Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology. The purpose of this paper is to report 5 additional familial cases* from two unrelated Israeli sibships and to stress the genetic factor responsible for this anatomical defect.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Pyloric atresia. A hereditary congenital anomaly with autosomal recessive transmission.

Pyloric atresia is a rare congenital anomaly; to date, only 29 newborns with this defect have been reported. Though familial occurrence of this anomaly has been reported twice (Benson and Coury, 1951; Thompson et al, 1968; Bronsther, Nadeau, and Abrams, 1971), no previous comments have been made concerning a possible genetic aetiology. The purpose of this paper is to report 5 additional familia...

متن کامل

Report of Four Cases of Osteogenesis

Four cases of osteogenesis imperfecta along with clinical and laboratory studies were reported.  Autosomal dominant pattern of transmission was most pro - bable in the first case owing to the fact that all members of the family showed blue sebera,two third was affected with various fractures and one forth suffered with deafness.  Recessive abnormal trait probably due to new mutation was the c...

متن کامل

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

Harboyan syndrome is a degenerative corneal disorder defined as congenital hereditary endothelial dystrophy (CHED) accompanied by progressive, postlingual sensorineural hearing loss. To date, 24 cases from 11 families of various origin (Asian Indian, South American Indian, Sephardi Jewish, Brazilian Portuguese, Dutch, Gypsy, Moroccan, Dominican) have been reported. More than 50% of the reported...

متن کامل

Fraser Syndrome - a Case Report and Review of Literature.

Fraser syndrome is a rare autosomal recessive genetic disorder characterized by major features such as cryptophthalmos, syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism, orofacial clefting, mental retardation and musculoskeletal anomalies. In total, about 150 affected patients have been described in the literature. The diagnosis of this syndrome can be e...

متن کامل

Genetic Counseling 1n Retinitis Pigmentosa

During his lifetime the practicing ophthalmologist will see more than a few retinitis pigmentosa cases. It is his responsibility not only to diagnose and prognosticate this eye disease, but also to set aside a little time in which to advise the patient and his family on its genetic aspects. Retinitis pigmentosa has been established as a definite hereditary disorder. Therefore, the most importan...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2006