Short stature with pigmentation.

نویسنده

  • P R Evans
چکیده

Four hypomelic children of abnormally short stature had slight intellectual defect, melanotic skin, and some facial features in common. 3 were followed to the age of 23-26 years, and they remained small and pigmented.

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

بررسی بالینی و بقای 36 کودک مبتلا به آنمی فانکونی

Fanconi anemia is the most prevalent form of inherited aplastic anemia which is characterized by progressive bone marrow failure, congenital anomalies and cancer susceptibility. Common anomalies are skeletal abnormalities, skin pigmentation disorder, short stature, head abnormalities, kidney and gonad disorders respectively. Complications of fanconi anemia include: leukemia due to defective DNA...

متن کامل

Diagnostic Accuracy of Growth Rate in Differentiating Etiologies of Short Stature in Children

Background  Short stature is a manifestation of a wide variety of conditions that some of which may be amenable to timely treatment and a suboptimal growth rate may be an early marker pointing to the cause of growth retardation. This study was conducted to evaluate the diagnostic utility of growth rate in differential diagnosis of children with short stature. Materials and Methods All children ...

متن کامل

Delayed diagnosis of turner,s Syndrome:A problem in treatment of short stature

Average age at dianogsis,clinical features,and karyotype analysis of 40 girls with turner,s Syndrome (TS) were studied.the medical records of 40 girls with TS were reviewed for age at dianogsis.clinical features,karyotype analysis and erasons of admission in pediatric endocrinology ward.although lymphedema is the key to diagnosis in newborn period,none of the cases were diagnosed in infancy.the...

متن کامل

کوتاهی قد در بیماران مبتلا به بتا - تالاسمی ماژور

S Shiva , MD R Sarisorkhabi , MD Received: 24 Oct, 2007 Accepted: 12 March, 2008 Abstract Background & Aims: Combination of chelating therapy regimens with regular blood transfusion has significantly improved the life expectancy of thalassemic patients. Despite progresses in treatment of these patients, growth failure, and short stature are found in significant number of them. Factors such...

متن کامل

Simultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report

Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...

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:
  • Archives of disease in childhood

دوره 52 8  شماره 

صفحات  -

تاریخ انتشار 1977