Unilateral choanal atresia in siblings – a rare occurrence

Bhattacharyya, Abir K.; Lund, Valerie J.

doi:10.1017/s0022215100134553

Cited by 16 publications

(10 citation statements)

References 22 publications

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“…14 More commonly, CA is found to occur sporadically and to recur infrequently in siblings and in subsequent generations. [14][15][16] abnormalities were noted, viz., anteposed anal opening and a systolic murmur. Subsequently, two-dimensional echocardiography detected arterial septal defect (ASD).…”

Section: Discussionmentioning

confidence: 99%

Attitude of Parents to Carrier Screening for Genetically Transmitted Diseases in India

Daruwalla¹

2017

MGM Journal of Medical Sciences

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Carrier screening plays a pivotal role in controlling transmission of genetic abnormalities through generations. Irreparable genetic aberrations are preventable by understanding the nature of alterations and nurturing prenatal/pre-implantation diagnosis. Retrospective carrier screening of blood-linked relatives not only prevents transmission to future generations but also helps in understanding the impact on future health. However, lack of cooperation of the parents/family members posts barriers for carrier screening, and thus, abnormalities occur in recurrent pregnancies. Parental attitude toward carrier screening has been discussed in this paper based on a case having unbalanced karyotypic abnormality with a chimeric extra chromosome (47,XX,+mar). This female baby was born with choanal atresia (CA), anteposed anus, and atrial septal defect to nonconsanguineous parents as second child. Owing to common problem of difficulty in breathing in father and the elder son, it could have been speculated that the father was the carrier of some genetic condition, which contributed to clinical expression; however, the parents were reluctant to undergo screening. Since there was aneuploidy with a rearranged chromosome, the possibility of normal karyotype in the parents cannot be expected, and thus, karyotyping was essential for the other child too. That was also refused. Refusal of screening by the family will necessarily put future generations of the family at risk of inheriting CA.

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Section: Discussionmentioning

confidence: 99%

Attitude of Parents to Carrier Screening for Genetically Transmitted Diseases in India

Daruwalla¹

2017

MGM Journal of Medical Sciences

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“…While familial cases of choanal atresia have been reported, suggesting monogenic inheritance with autosomal dominant and autosomal recessive modes of transmission, the majority of cases are sporadic. [11][12] There are a few reported cases of bilateral choanal atresia among siblings. Sadek 2 recently described six cases of bilateral bony choanal atresia among siblings with associated abnormalities who were offspring of consanguineous marriages.…”

Section: Discussionmentioning

confidence: 99%

Bilateral Choanal Atresia in Premature Monozygotic Twins

et al. 2005

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Bilateral congenital choanal atresia is a relatively rare anomaly of the upper airway, which may cause life-threatening respiratory emergency and require rapid diagnosis and treatment. This condition usually occurs sporadically, but has also been rarely described in siblings. We present monozygotic premature twin infants with identical findings of bilateral choanal atresia and no other associated anomalies. To our knowledge, this is the first report of such an occurrence.

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“…Some previously published studies have suggested that choanal atresia tends to occur sporadically and to recur infrequently in siblings and in successive generations [Bhattacharyya and Lund, 1996; Gershoni-Baruch, 1992; Skolnik et al, 1973]. Other studies have suggested single gene models that include both autosomal dominant and autosomal recessive transmission [Gershoni-Baruch, 1992].…”

Section: Introductionmentioning

confidence: 99%

Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997–2007

Kancherla

Romitti

Sun

et al. 2014

European Journal of Medical Genetics

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Choanal atresia causes serious posterior nasal obstruction. This defect is the leading cause of nasal surgery in newborns, although its etiology is largely unknown. Data from the National Birth Defects Prevention Study, a population-based case–control study, were used to examine associations between maternal self-reports of exposures and occurrence of choanal atresia in their offspring. Overall, 117 case and 8350 control mothers with deliveries from 1997 through 2007 provided telephone interview reports of pre-pregnancy (one year before conception) and periconceptional (one month before through three months after conception) exposures. The exposures analyzed were pre-pregnancy dietary intake, pre-pregnancy and periconceptional caffeine consumption, and periconceptional cigarette smoking, alcohol drinking, and medication use. Independent associations between each exposure and all choanal atresia cases combined (n = 117) and isolated choanal atresia cases (those without additional unrelated major defects; n = 61) were examined. Odds ratios (ORs), both unadjusted (uORs) and adjusted (aORs) for potential confounders, and 95% confidence intervals (CIs) were estimated using unconditional logistic regression analysis. For all choanal atresia cases combined, positive associations were observed with maternal pre-pregnancy intake in the highest quartile for vitamin B-12 (aOR = 1.9; CI = 1.1,3.1), zinc (aOR = 1.7; CI = 1.0,3.1), and niacin (aOR = 1.8; CI = 1.0,3.1), and intake in the lowest quartile for methionine (aOR = 1.6; CI = 1.0,2.6) and vitamin D (aOR = 1.6; CI = 1.0,2.4) compared to intake in the two intermediate quartiles combined. Further, a positive association was observed with periconceptional use of thyroid medications (uOR = 2.6; CI = 1.0,6.3) compared to no use of such medications. Among isolated choanal atresia cases, negative associations were observed for pantothenic acid (aOR = 0.4; CI = 0.2,0.9) and fat (aOR = 0.5; 95% CI = 0.2,1.0) intake in the lowest quartile compared to that in the intermediate quartiles, and positive associations were observed for periconceptional cigarette smoking (aOR = 2.3; CI = 1.1,4.7) compared to no smoking and pre-pregnancy daily coffee intake of 3 or more cups (aOR = 2.5; CI = 1.1,5.6) compared to intake of less than 1 cup per day. The positive association for periconceptional exposure to thyroid medications also persisted for isolated choanal atresia cases (uOR = 4.0; CI = 1.1,11.2). Because of the large number of associations tested, these findings may be due to chance. Alternatively, they may contribute new hypotheses regarding the etiology of choanal atresia; thus, requiring replication in additional studies.

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Unilateral choanal atresia in siblings – a rare occurrence

Cited by 16 publications

References 22 publications

Attitude of Parents to Carrier Screening for Genetically Transmitted Diseases in India

Attitude of Parents to Carrier Screening for Genetically Transmitted Diseases in India

Bilateral Choanal Atresia in Premature Monozygotic Twins

Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997–2007

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