Genetic analysis of a congenital split‑hand/split‑foot malformation 4 pedigree
نویسندگان
چکیده
منابع مشابه
Genetic Causes of Congenital Malformation
There have been amazing advances in embryology, teratology, reproductive biology, genetics, andepidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive 434SURAKSHA AGRAWAL Author’s Address: Prof. Suraksha Agrawal, Dep...
متن کاملPedigree Analysis for Genetic Counseling
We report on the design and implementation of a prototype program, GENINFER , to assist genetic counselors in evaluating the risk of recurrence of genetic disorders based on the analysis of family pedigrees. The present version of the program integrates a convenient graphical interface that permits counselors to draw, examine and modify family pedigrees and to enter information relevant to ri...
متن کاملCongenital Pulmonary Airway Malformation Type 4: A Case Report
Congenital pulmonary airway malformation (CPAM) is a very rare pulmonary disease in children. It is often misdiagnosed as a persistent and localized pneumothorax without any further pathological diagnosis. Malignancy and frequent airway infections are major concerns in these patients. Surgical excision is recommended to make a definite diagnosis and exclude hidden malignancies, and is also the ...
متن کاملA Case of Congenital Malformation
the village of Connihatty, Zillah Kajshahye, and presents the following peculiar malforraities:? (a.) Spine.?An angulo-lateral curvature is seen occupying the whole of the dorsal region; the lateral deflexion is towards the right; all the ribs from the 3rd downwards participate in the curve, and are greatly bent at their angles. (b.) Hands (1) Right.?Fingers normal, but the metacarpal bone of t...
متن کاملAcalvaria: An Extremely Rare Congenital Skull Malformation
Acalvaria defined as absent skull bones, is an extremely rare congenital anomaly with only a handful of cases reported in literature. In this report we presented a male newborn case of acalvaria referred to our hospital (Shahid Motahari hospital of Urmia, Iran). The condition per se has been described as having high mortality rate. Very few living cases, less than ten, have been reported till now.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2018
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2018.8838