Frontometaphyseal dysplasia: autosomal dominant or X-linked?

نویسندگان
چکیده

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود 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

Frontometaphyseal dysplasia: autosomal dominant or X-linked?

The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and depicted. Deafness and degenerative osteoarthropathy in weight-bearing joints were the main clinical problems. Widespread patchy cranial sclerosis was reminiscent of Paget's disease, while digital deformity resembled rheumatoid arthritis. On the basis of a review and tabu...

متن کامل

Campomelic dysplasia: evidence of autosomal dominant inheritance.

We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.

متن کامل

Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern

Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hy...

متن کامل

Mendelian Inheritance in Man, Catalogues of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

much better for the author to have selected fewer topics for inclusion in the book, and to have given each one a more thorough treatment. Other subjects which are scantily covered include evidence for a myopia gene, existence of an alcoholism gene, genetic transmission of psychotic tendency, relation of creativity to the schizophrenia gene, and inherited personality and creative aptitude. As ca...

متن کامل

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

chapter, presentation consists of an unabating recitation in chronological order of the salient points from each one of the cited references. Unbearable repetition, absence of a logical flow of ideas and difficulty extracting the most significant concepts results. The autlhor provides essentially no integration or summarization of h1is material. Critical analysis of the data and conclusions are...

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: 1980

ISSN: 1468-6244

DOI: 10.1136/jmg.17.1.53