Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Hiatal Hernia01:25

Hiatal Hernia

A hiatal hernia is the abnormal protrusion of the stomach or other abdominal organs through the esophageal hiatus of the diaphragm into the thoracic cavity.Normally, the gastroesophageal junction (GEJ) lies below the diaphragm and is supported by the phrenoesophageal membrane, the diaphragmatic crura, and connective tissues. Weakening of these structures—due to aging, congenital defects like a short esophagus, or increased intra-abdominal pressure from coughing, obesity, pregnancy, or heavy...
Esophageal Achalasia01:27

Esophageal Achalasia

Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...
Prosopagnosia01:24

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
Visual Agnosia01:12

Visual Agnosia

Visual agnosia is a condition characterized by the inability to recognize visually presented objects despite having normal vision. For instance, a person with visual agnosia can describe the shape and color of an object but cannot identify or name it. This impairment does not affect their visual field, acuity, color vision, brightness discrimination, language, or memory. An example of this condition in a social setting is someone at a dinner party asking for "that silver thing with a round end"...
Esophageal Perforation-I: Introduction01:22

Esophageal Perforation-I: Introduction

Esophageal perforation is a severe medical condition characterized by a breach in the integrity of the esophageal wall. This breach can occur due to various factors such as trauma, medical procedures, or underlying diseases. When the esophageal wall is compromised, it allows food, fluids, and digestive juices into the chest cavity or adjacent structures, leading to potential complications and health risks.
The location of esophageal perforation can vary, occurring anywhere along the esophagus.
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Correlation between calf circumference and skeletal mass index among type 2 diabetes mellitus individuals with sarcopenia.

Scientific reports·2026
Same author

Unmasking pulmonary veno-occlusive disease after vasodilator therapy in limited cutaneous systemic sclerosis.

BMJ case reports·2025
Same author

TAVI Through the Years: A Systematic Review of Progress.

Journal of pharmacy & bioallied sciences·2025
Same author

Seven-day versus 14-day antibiotic course for culture-proven neonatal sepsis: a multicentre randomised non-inferiority trial in a low and middle-income country.

Archives of disease in childhood. Fetal and neonatal edition·2025
Same author

Holographic direct sound printing.

Nature communications·2024
Same author

Simultaneous Presentation of Takayasu Arteritis and Crohn's Disease in a Middle-Aged Patient: Are they two sides of the same coin?

BMJ case reports·2024
Same journal

Bilateral Parotid Enlargement as an Initial Manifestation of Pediatric Acute Lymphoblastic Leukemia.

Indian journal of pediatrics·2026
Same journal

Hemorrhagic Cardiac Tamponade Due to MRSA Sepsis in a Child with Relapsed Acute Lymphoblastic Leukemia: Authors' Reply.

Indian journal of pediatrics·2026
Same journal

A Prospective Model for Detecting Missed Appendicitis in Low-Risk Pediatric Patients: Correspondence.

Indian journal of pediatrics·2026
Same journal

Serum Periostin as a Biomarker in Pediatric Asthma: Findings from a Case-Control Study - Authors' Reply.

Indian journal of pediatrics·2026
Same journal

When the Eye Peels: An Unusual Harbinger of Kawasaki Disease - Correspondence.

Indian journal of pediatrics·2026
Same journal

Pediatric Sleep-Related Laryngospasm: Cause of Nocturnal Respiratory Distress.

Indian journal of pediatrics·2026
See all related articles

Related Experiment Video

Updated: May 15, 2026

Intrathecal Application of a Fluorescent Dye for the Identification of Cerebrospinal Fluid Leaks in Cochlear Malformation
06:59

Intrathecal Application of a Fluorescent Dye for the Identification of Cerebrospinal Fluid Leaks in Cochlear Malformation

Published on: February 29, 2020

Congenital amastia.

Lingaraja Gowda C Patil1, Niranjan Hunasanhalli Shivanna, Naveen Benakappa

  • 1Division of Neonatology, Indira Gandhi Institute for Child Health, South Hospital Complex, Dharmaram College Post, Bangalore, 560029, Karnataka, India, doclcp81@rediffmail.com.

Indian Journal of Pediatrics
|December 21, 2012
PubMed
Summary
This summary is machine-generated.

Congenital isolated bilateral amastia, the absence of breast tissue, areolae, and nipples, was diagnosed in a newborn. This rare condition appeared to have a familial pattern, affecting multiple maternal relatives.

More Related Videos

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma
02:37

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma

Published on: December 15, 2023

Related Experiment Videos

Last Updated: May 15, 2026

Intrathecal Application of a Fluorescent Dye for the Identification of Cerebrospinal Fluid Leaks in Cochlear Malformation
06:59

Intrathecal Application of a Fluorescent Dye for the Identification of Cerebrospinal Fluid Leaks in Cochlear Malformation

Published on: February 29, 2020

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma
02:37

Robot-Assisted Transcanal Endoscopic Ear Surgery for Congenital Cholesteatoma

Published on: December 15, 2023

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Pediatric Endocrinology

Background:

  • Congenital amastia is a rare condition characterized by the complete absence of breast tissue, areolae, and nipples.
  • It can occur in isolation or as part of a broader genetic syndrome.
  • Understanding the genetic and developmental basis of amastia is crucial for diagnosis and management.

Observation:

  • A 3-day-old female infant presented with bilateral congenital amastia.
  • No other congenital anomalies were detected in the infant.
  • A family history revealed similar absence of breast tissue, areolae, and nipples in the mother and two maternal relatives.

Findings:

  • Diagnostic investigations, including ultrasounds of the chest wall, abdomen, and head, yielded normal results.
  • The clinical presentation and family history were consistent with congenital isolated bilateral amastia.
  • The condition appears to have a hereditary component, suggesting a genetic etiology.

Implications:

  • This case highlights the importance of thorough family history in diagnosing rare congenital conditions.
  • Further research into the specific genetic factors underlying familial amastia is warranted.
  • Early diagnosis and genetic counseling can aid families affected by this rare condition.