Pitfalls in counselling: the craniosynostoses.
نویسندگان
چکیده
منابع مشابه
Pitfalls in counselling: the craniosynostoses.
We describe three families to highlight the variability of expression and penetrance that can occur in the craniosynostoses. In two of the families, gene carriers were only identified in retrospect by looking at photographs of other family members. In the third family, identical twins were initially thought to be discordant for sagittal craniosynostosis until early skull x rays were examined an...
متن کاملPitfalls of genetic counselling in Pfeiffer's syndrome.
A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.
متن کاملConsanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.
Genetic counselling in the autosomal dominant condition of the Romano-Ward syndrome might be assumed to be relatively straightforward. The problems posed by consanguinity, deafness, and subclinical gene carriers in a pedigree with this condition have caused us to reevaluate this view. The diagnostic and management difficulties which may attend this potentially fatal condition are highlighted by...
متن کاملPitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
Non-penetrance or minimal expression as a genetic counselling problem in the blepharophimosis syndrome is discussed.
متن کاملDosimetric pitfalls in the application of shielding disk in breast intraoperative electron radiation therapy
Introduction: Intraoperative electron radiotherapy (IOERT) is an IORT technique in which electron beams with different nominal energies are used for irradiation of microscopic residual of tumor bed after surgery. Application of a shielding disk, which is positioned under the target volume, for protecting the normal tissues such as pectoral muscle, lung, and heart is one of the a...
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: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.2.117