Looking past the lump: genetic aspects of inguinal hernia in children

Barnett, Christopher; Langer, Jacob C.; Hinek, Aleksander; Bradley, Timothy J.; Chitayat, David

doi:10.1016/j.jpedsurg.2008.12.022

Cited by 26 publications

(15 citation statements)

References 83 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Approximately one-third of patients have genitourinary abnormalities 20,22,23,27,29,39,153,160 including: bilateral or unilateral renal agenesis 25,161,162 , dysplastic or cystic kidneys 161,162 , duplicated collecting system 161,162 , hydronephrosis 161,162 , cryptorchidism 18 , hypospadias 18 , absent uterus 163 or inguinal hernia 164 .…”

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

22q11.2 deletion syndrome

McDonald‐McGinn

Sullivan

Marino

et al. 2015

Nat Rev Dis Primers

1,030

1,133

View full text Add to dashboard Cite

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of findings now known to be due to this chromosomal difference was made in the 1960s in children with DiGeorge syndrome, who presented with the clinical triad of immunodeficiency, hypoparathyroidism and congenital heart disease. The syndrome is now known to have a heterogeneous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as palatal, gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioural phenotypes and psychiatric illness — all far extending the original description of DiGeorge syndrome. Management requires a multidisciplinary approach involving paediatrics, general medicine, surgery, psychiatry, psychology, interventional therapies (physical, occupational, speech, language and behavioural) and genetic counselling. Although common, lack of recognition of the condition and/or lack of familiarity with genetic testing methods, together with the wide variability of clinical presentation, delays diagnosis. Early diagnosis, preferably prenatally or neonatally, could improve outcomes, thus stressing the importance of universal screening. Equally important, 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, medical conditions, psychiatric and developmental disorders, and may provide a platform to better understand these disorders while affording opportunities for translational strategies across the lifespan for both patients with 22q11.2DS and those with these associated features in the general population.

show abstract

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

22q11.2 deletion syndrome

McDonald‐McGinn

Sullivan

Marino

et al. 2015

Nat Rev Dis Primers

1,030

1,133

View full text Add to dashboard Cite

show abstract

“…SRY has been implicated in disorders of sexual differentiation, in which inguinal hernia is a common sign (Barnett et al, 2009;Jäger et al, 1990;Hawkins et al, 1992). The variant g.3913_3914ins did not affect known binding sites for human transcription factors.…”

Section: Resultsmentioning

confidence: 99%

“…There are two types of inguinal hernia, direct inguinal hernia and indirect inguinal hernia (IIH). IIH, a majority of inguinal hernia, is caused by delayed closure of processus of vaginalis (Barnett et al, 2009). Genetic factors have been proposed as a significant risk factor for development and recurrence of primary inguinal hernia (Burcharth et al, 2013).…”

Section: Introductionmentioning

confidence: 99%

“…Genetic factors have been proposed as a significant risk factor for development and recurrence of primary inguinal hernia (Burcharth et al, 2013). IIH has been observed in several human syndromes, such as Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome and 22q11.2 microdeletion syndrome (Barnett et al, 2009). As inguinal ring composes of collagen, elastic fibers and extracellular matrix, defects in these components may be involved in inguinal hernia development.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Genetic and functional analysis of the TBX3 gene promoter in indirect inguinal hernia

Zhao¹,

Tian²,

Wang³

et al. 2015

Gene

View full text Add to dashboard Cite

“…Ovaries have been reported in lumbar hernias [6]. A recent review article by Barnett et al [7] described the associations between several genetic syndromes and increased incidence of inguinal hernias. Our patient does not have a known genetic disorder; however, she does have a constellation of abnormal physical findings.…”

Section: Discussionmentioning

confidence: 99%