Related Experiment Video

Updated: Mar 7, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.8K

Do you know this syndrome? Leopard syndrome

Flávio Heleno da Silva Queiroz Cançado1, Luis Candido Pinto da Silva1, Paulo Franco Taitson1

  • 1Odontology Department of the Pontifícia Universidade Católica de Minas Gerais (PUC Minas) - Belo Horizonte (MG), Brazil.

Anais Brasileiros De Dermatologia
|February 23, 2017
PubMed

Insights

Leopard syndrome, a rare genetic disorder, presents with multiple lentigines, heart abnormalities, and developmental issues. This case highlights a 12-year-old diagnosed with Leopard syndrome due to characteristic symptoms.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Leopard syndrome is a rare autosomal dominant disorder characterized by a mnemonic of clinical features.
  • Key features include lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, genital abnormalities, growth retardation, and deafness.

Observation:

  • A 12-year-old patient presented with a constellation of symptoms suggestive of Leopard syndrome.
  • Observed characteristics included hypertelorism, macroglossia, lentigines, hypospadias, cryptorchidism, subaortic stenosis, growth retardation, and hearing impairment.

Findings:

  • The patient's clinical presentation aligned with several diagnostic criteria for Leopard syndrome.
  • Diagnosis was confirmed based on the presence of multiple characteristic features.

Implications:

  • This case underscores the importance of recognizing the diverse phenotypic spectrum of Leopard syndrome.
  • Early diagnosis is crucial for timely management of associated cardiac and developmental complications.
  • Further research into genotype-phenotype correlations can improve prognostic accuracy.

More Related Videos

Metabolic Labeling of Leucine Rich Repeat Kinases 1 and 2 with Radioactive Phosphate11:31

Metabolic Labeling of Leucine Rich Repeat Kinases 1 and 2 with Radioactive Phosphate

Published on: September 18, 2013

10.5K
Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag08:55

Rab10 Phosphorylation Detection by LRRK2 Activity Using SDS-PAGE with a Phosphate-binding Tag

Published on: December 14, 2017

16.2K

Related Concept Videos

Pleiotropy01:33

Pleiotropy

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,...
43.7K
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
18.7K
Disorders of Leukocytes01:27

Disorders of Leukocytes

Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune...
2.2K
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
789
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
31.5K
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
110.0K