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

نویسندگان

  • S J Charles
  • A T Moore
  • J R Yates
  • T Green
  • P Clark
چکیده

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.

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

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

Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency.

A family with familial cerebellar ataxia and hypogonadotropic hypogonadism is described. The condition was inherited as an autosomal recessive defect. CT scan in one case revealed cerebellar and brain stem atrophy. Endocrinological tests showed abnormalities only in two patients who were clinically affected. In both cases raised gonadotropic levels were found after repetitive stimulation with l...

متن کامل

گزارش یک مورد سندرم مارفان همراه با دفورمیتی‌های شدید اسکلتی با توارث اتوزوم مغلوب

  A case of Marfan Syndrome with Severe Kyphoscoliosis in Recessive Autosomal from of Inheritance     N. Tayebi [1] , M. tashakor [2]     Received: 30/09/07 Sent for Revision: 23/04/08 Received Revised Manuscript: 15/07/08 Accepted: 23/08/08     Background and Objective: Marfan syndrome is known as an autosomal-dominant connective tissue disorder which affects the skeletal, ocular and cardiovas...

متن کامل

سندرم DRASH و گزارش اولین مورد آن در ایران

ABSTRACT: DRASH Syndrome is a rare congenital disorder,and the triad of drash syndrome are progressive renal insufficiency ,male pseudohermaphroditism & Wilms tumor .All of the reported cases were sporadic and autosomal dominant inheritance was suspected in some references. We diagnosed a 32- month child with this syndrome in IRAN in 1993. He was presented with wilms tumor and also had male p...

متن کامل

Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance

Idiopathic hypogonadotropic hypogonadism (IHH) is a condition caused by low doses of hypothalamic gonadotropin-releasing hormone (GnRH) leading to absence or incomplete sexual maturation. One of the disorders leading to IHH is Kallmann syndrome which is characterized by GnRH deficiency with anosmia or hyposmia. This disorder generally occurs as a hereditary syndrome with X-linked recessive inhe...

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:
  • Journal of medical genetics

دوره 27 9  شماره 

صفحات  -

تاریخ انتشار 1990