| Genetic syndrome suspicion: examples of clinical approach in the neonatal unit. | |
| | |
MedLine Citation:
|
PMID: 21089741 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Overgrowth syndromes: the practical clinical approach. Excessive growth can be present in a variety of medical conditions as result of abnormal fetal metabolism (i.e., maternal gestational diabetes) or of an overgrowth syndrome. Within this latter group of diseases, a LGA newborn requires a complex differential diagnosis encompassing several syndromes, such as Beckwith-Wiedemman, Sotos, Weaver, Simpson-Golabi-Behmel, Perlman, and Bannayan-Riley-Ruvalcaba. Partial or global overgrowth, other dysmorphisms, abdominal organs anomalies, as well as benign and malignant tumors are the common issues to examine for the diagnosis and the monitoring of all these disorders. The molecular bases of these conditions, even if partially known so far, can help in explaining the clinical features and prognosis. The diagnostic course, the genetic investigations and the follow-up of a LGA patient will be presented during the seminar. A wide clinical spectrum from esophageal atresia to VACTERL association. Oesophageal atresia (OA) occurs approximately in 1 in 3000 live births. It can be clinically divided into isolated and syndromic, when associated with other features. The aetiology is largely unknown and is likely to be multifactorial, however, various clues have been uncovered in animal experiments particularly defects in the expression of the gene Sonic hedgehog (Shh). The vast majority of cases are sporadic and the recurrence risk for siblings is 1%. Survival is directly related to birth weight and to the presence of a major cardiac defect. The VACTERL association refers to anomalies of the bony spinal column (V), atresias in the gastrointestinal tract (A), congenital heart lesions (C), tracheoesophageal defects (TE), renal and distal urinary tract anomalies (R) and limb lesions (L). The overall phenotype of a series of newborn patients we observed may vary widely, reflecting the aetiologic heterogeneity of this group of conditions. Therefore, possible additional defects must be accurately investigated in all newborns with OA. |
| | |
Authors:
|
M Giuffrè; L De Sanctis |
Publication Detail:
|
Type: Journal Article; Review |
Journal Detail:
|
Title: Minerva pediatrica Volume: 62 ISSN: 0026-4946 ISO Abbreviation: Minerva Pediatr. Publication Date: 2010 Jun |
Date Detail:
|
Created Date: 2010-11-22 Completed Date: 2010-12-30 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0400740 Medline TA: Minerva Pediatr Country: Italy |
Other Details:
|
Languages: eng Pagination: 199-201 Citation Subset: IM |
Affiliation:
|
UO di Neonatologia e Terapia Intensiva Neonatale, Dipartimento Materno Infantile, Università degli Studi di Palermo. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Abnormalities, Multiple
/
diagnosis,
genetics Anal Canal / abnormalities Birth Weight Congenital Abnormalities / diagnosis, genetics Early Diagnosis* Esophageal Atresia / diagnosis, epidemiology, genetics Esophagus / abnormalities Fetal Macrosomia / diagnosis, etiology Genetic Diseases, Inborn / diagnosis* Genetic Testing* Heart Defects, Congenital / diagnosis, epidemiology, genetics Hedgehog Proteins / deficiency, genetics Humans Infant, Newborn Intensive Care Units, Neonatal* Kidney / abnormalities Limb Deformities, Congenital / diagnosis, epidemiology, genetics Neonatology / methods* Patient Care Team Spine / abnormalities Syndrome Trachea / abnormalities |
| Chemical | |
Reg. No./Substance:
|
0/Hedgehog Proteins; 0/SHH protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Laboratory investigations in genetic syndromes: examples of clinical approach in the neonatal unit.
Next Document: Fluid and electrolyte intake during the first week of life in preterm infants receiving parenteral n...