Related Experiment Video

Updated: Aug 11, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

Costello syndrome: report of an 8-month-old marasmic boy

M Popa1, D M Ioan, J P Fryns

  • 1Department of Paediatric Endocrinology, Institute of Endocrinology, Bucharest, Romania.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1996
PubMed

Insights

Costello syndrome, a condition with multiple congenital anomalies and mental retardation, often presents with severe, early-onset growth failure. This key clinical sign aids in early diagnosis of this rare genetic disorder.

Area of Science:

  • Genetics
  • Pediatrics
  • Developmental Biology

Background:

  • Costello syndrome is a rare genetic disorder characterized by multiple congenital anomalies (MCA) and intellectual disability.
  • Early identification of Costello syndrome is crucial for timely intervention and management.

Observation:

  • A case study of an 8-month-old boy with Costello syndrome is presented.
  • The patient exhibited multiple congenital anomalies and mental retardation.

Findings:

  • Severe and early-onset postnatal growth failure was the most prominent initial clinical manifestation.
  • This growth pattern serves as a significant indicator for Costello syndrome.

Implications:

  • Recognizing early growth failure can lead to earlier diagnosis of Costello syndrome.
  • This highlights the importance of monitoring growth in infants with suspected MCA/MR syndromes.
  • Further research into the genetic basis and clinical spectrum of Costello syndrome is warranted.

More Related Videos

Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis07:56

Rectal Organoid Morphology Analysis (ROMA): A Diagnostic Assay in Cystic Fibrosis

Published on: June 10, 2022

Laparoscopic Choledochal Cyst Excision and Roux-en-Y Choledochojejunostomy in Adults04:14

Laparoscopic Choledochal Cyst Excision and Roux-en-Y Choledochojejunostomy in Adults

Published on: February 28, 2025

Related Concept Videos

Other Disorders of Digestive System01:30

Other Disorders of Digestive System

The gastrointestinal tract is susceptible to various disorders. If the lower esophageal sphincter is damaged, stomach acid can flow back into the esophagus, causing irritation and inflammation of the lining. This condition is called gastroesophageal reflux disease (known as heartburn) and may cause chest pain and difficulty swallowing. In the stomach, prolonged use of nonsteroidal anti-inflammatory drugs like aspirin, chronic alcohol consumption, bacterial infections such as Helicobacter...
Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
Esophageal Strictures-I: Introduction01:30

Esophageal Strictures-I: Introduction

Esophageal strictures involve abnormal narrowing or tightening of the esophagus. They vary in length and severity, ranging from mild constriction to complete obstruction, and are classified as benign (noncancerous) or malignant (cancerous).
Etiology
The primary cause of esophageal strictures is long-standing gastroesophageal reflux disease (GERD), accounting for about 70 to 80% of adult cases. Chronic acid reflux can lead to injury and scarring of the esophageal lining, culminating in...
Esophageal Strictures-II: Clinical Features and Management01:26

Esophageal Strictures-II: Clinical Features and Management

Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
Esophageal Varices-II: Clinical Features and Management01:28

Esophageal Varices-II: Clinical Features and Management

Esophageal varices often manifest as gastrointestinal bleeding episodes, presenting symptoms like hematemesis (vomiting of blood), hematochezia (passing fresh blood via the rectum), and melena (black, tarry stools). Other signs can include weight loss, anorexia, abdominal discomfort, jaundice, pruritus, altered mental status, and muscle cramps.
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol abuse, or...
Pyloric Obstruction01:11

Pyloric Obstruction

Pyloric obstruction, also referred to as gastric outlet obstruction, is a condition characterized by narrowing or blockage at the pylorus—the muscular valve regulating the flow of stomach contents into the duodenum. When this passage becomes impaired, the stomach cannot effectively empty its contents into the small intestine. This disruption leads to a range of gastrointestinal symptoms, including early satiety, bloating, epigastric pain, postprandial nausea, persistent vomiting, and...