Complex management of children affected with cleft lip and palate associated with genetic syndromes

Attila Vástyán1, Teodor Barna Maros2, Kinga Amália Sándor-Bajusz3

  • 11 Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar, Gyermekgyógyászati Klinika, Manuális Tanszék Pécs, József Attila u 7., 7623 Magyarország.

Orvosi Hetilap
|May 22, 2022
PubMed

Insights

Facial cleft treatment requires modification for syndromic patients. Associated anomalies in genetic syndromes often take priority over cleft lip and palate reconstruction.

Area of Science:

  • Craniofacial Surgery
  • Pediatric Genetics
  • Developmental Biology

Background:

  • Facial clefts are common developmental anomalies, but can be associated with genetic syndromes.
  • Syndromic clefts present unique challenges compared to isolated cases.

Purpose of the Study:

  • To analyze the treatment of syndromic cleft patients.
  • To determine if standard treatment algorithms need modification for syndromic cases.

Main Methods:

  • Retrospective analysis of 1999-2015 Pecs Cleft Team patient data.
  • Inclusion of surgical, genetic, and national registry epidemiological data.

Main Results:

  • 607 patients treated; 25 (4.11%) had anomalies, 16 (2.6%) had syndromes.
  • Robin sequence was the most common syndrome (50%).
  • 13 patients required modified treatment algorithms due to genetic syndromes.

Conclusions:

  • Genetic syndromes significantly impact cleft lip and palate treatment algorithms.
  • Prioritizing surgical treatment of associated anomalies is crucial in syndromic cases.

Related Concept Videos

Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
229
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
378
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
35.3K
Cohesins02:20

Cohesins

Cohesin protein complexes are a molecular glue that holds two sister chromatids together. They play an important role both in mitosis and meiosis. In mitosis, all cohesin complexes present on the chromosomes are removed before the start of the anaphase stage.
Cohesin complexes in Meiotic Division
Meiosis involves two distinct rounds of chromosomal segregation and cell divisions— Meiosis I followed by Meiosis II – producing four daughter cells. Meiosis I includes the separation of...
4.7K
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...
171
Chronic Pancreatitis II: Collaborative Care01:29

Chronic Pancreatitis II: Collaborative Care

The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
133