Related Experiment Video
Updated: Jun 17, 2026
06:31
Transuterine Fetal Tracheal Occlusion Model in Mice
Published on: February 5, 2021
A unique case of a congenital diaphragmatic hernia in a boy with albinism
Nageena Hussain1, Michael J Dawrant, Richard K Firmin
1Department of Cardiothoracic Surgery and ECMO, Glenfield Hospital, LE3 9QP Leicester, UK.
Journal of Pediatric Surgery
|December 17, 2009
Abstract:
Congenital diaphragmatic hernia and oculocutaneous albinism are both rare birth defects that can be diagnosed in the newborn period. However, they have not been previously reported to have occurred together. This report describes a unique case of a male Asian baby with oculocutaneous albinism and a right-sided congenital diaphragmatic hernia.
Related Concept Videos
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
01:14Changes in Skin Color: Clinical Perspectives
The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
01:25Hiatal 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...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...