Grebe syndrome: a rare association with congenital heart disease.

نویسندگان

  • Jawad Jalil
  • Mobeen Shafique
  • Ehtesham-ul-Haq
چکیده

Grebe syndrome is a very rare form of short-limbed dwarfism. It is a genetic condition, passed by autosomal recessive inheritance. It is characterized by marked acromesomelic shortening of all the four limbs. There are no other associated anomalies. The affected baby has normal intelligence and normal life span. We present here a case of Grebe syndrome along with congenital heart disease.

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

Adams Oliver Syndrome and Congenital Deafness

Admas-Oliver syndrome is a rare autosomal dominant disease of congenital development defects association with aplasia cutis. All of 81 reported cases were of 32 group families. These two cases had congenital scalp cutis aplasia with developmental defect and hypoplasia of left foot digits in case 1.Congenital deaf-mute in both can added to the past known findings in this syndrome. Thoracic defor...

متن کامل

Holt-Oram Syndrome: A Rare Variant

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...

متن کامل

A Rare Association of Right-sided Congenital Diaphragmatic Hernia and Encephalocele: A Case Report

Background: This is a case report regarding a 2051-gram female newborn affected by right-sided congenital diaphragmatic hernia (CDH) presenting with encephalocele in the occipital region. Case report: The newborn was delivered by a 38-year-old mother from Darmian city, a rural district located in South Khorasan province, Iran. Co...

متن کامل

Non-thyroidal illness syndrome and cardiopulmonary bypass in children with congenital heart disease

 Abstract Background: The thyroid hormones influence on all metabolic pathways. After heart surgery using cardiopulmonary bypass (CPB), serum T3 decreases and remains low for at least 24 hours. Several studies on pediatric have reported reduction of thyroid hormones after heart surgery. This study aimed to investigate the status of thyroid function tests in children with CPB surgery. Metho...

متن کامل

The Importance of Examining Congenital Hypothyroidism in Connection with Congenital Heart Disease: Letter to Editor

Dear Editor-in-Chief: I read and enjoyed your stylish article, "Frequency of Congenital Cardiac Malformations in Neonates with Congenital Hypothyroidism", in relation to heart disease with hypothyroidism. As we know, one of the most commonly associated congenital hypothyroidism disorders is congenital heart disease, which has a significant effect on the recovery of pat...

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 the College of Physicians and Surgeons--Pakistan : JCPSP

دوره 22 4  شماره 

صفحات  -

تاریخ انتشار 2012