Simple anonychia. Further evidence for autosomal recessive inheritance.

نویسندگان
چکیده

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

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Autosomal Recessive Inheritance

The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objecti...

متن کامل

Evidence for autosomal recessive inheritance in cerebral gigantism.

Three cases of cerebral gigantism, two sibs and their double first cousin, are describedina largeinbred family from Israel. Two of the three were observed and diagnosed at birth and two were followed for two years. They all presented the signs and symptoms considered typical ofthis syndrome, as well as some ofthe less frequent findings. Generalized oedema and flexion contractures of the feet we...

متن کامل

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.

We report a case of Alstrom's syndrome with hypothyroidism in addition to the cardinal features of blindness, deafness, obesity, and insulin dependent diabetes mellitus. The parents were first cousins once removed which strengthens the case for autosomal recessive inheritance.

متن کامل

Autosomal recessive inheritance of Nager acrofacial dysostosis.

Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The recognition of this syndrome as a dis...

متن کامل

Sulcus vocalis: evidence for autosomal dominant inheritance.

We found evidence of autosomal dominant hereditary transmission of sulcus vocalis. Four dysphonic patients from three generations of the same family were submitted to videolaryngoscopic examination (three patients) and to direct laryngoscopy (one patient) to diagnose the hoarseness. Sulcus vocalis was diagnosed in all four patients. The finding of four affected individuals in three generat...

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

ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 1971

ISSN: 1468-6244

DOI: 10.1136/jmg.8.4.478