Is hemifacial microsomia linked to multiple maternities?

Lawson, Kay; Waterhouse, N.; Gault, David; Ng, Roy; Calvert, Mary

doi:10.1054/bjps.2002.3902

Cited by 22 publications

(19 citation statements)

References 20 publications

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“…A pair of monozygotic twins discordant for OAVS represented the first report of the syndrome by Goldenhar [1952], and several additional patients have been published, including sets of monozygotic twins [Burck, 1983;Ryan et al, 1988;Lawson et al, 2002;Werler et al, 2004]. In the present series, a predominance of dizygotic twins is apparent.…”

Section: Discussionmentioning

confidence: 61%

“…The high percentage of twin-pregnancies among patients with OAVS suggests that the twinning mechanism can predispose to this malformation spectrum [Burck, 1983;Ryan et al, 1988;Lawson et al, 2002;Werler et al, 2004;present report]. A pair of monozygotic twins discordant for OAVS represented the first report of the syndrome by Goldenhar [1952], and several additional patients have been published, including sets of monozygotic twins [Burck, 1983;Ryan et al, 1988;Lawson et al, 2002;Werler et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

“…The cause of OAVS is unknown. Twin pregnancies [Burck, 1983;Ryan et al, 1988;Lawson et al, 2002;Werler et al, 2004] and artificial reproductive techniques [Jongbloet, 1987;Ferraris et al, 1999;Roesch et al, 2001] have been considered possible risk factors OAVS.…”

Section: Introductionmentioning

confidence: 99%

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Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)

Digilio

Calzolari

Capolino

et al. 2008

American J of Med Genetics Pt A

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The oculo-auriculo-vertebral spectrum (OAVS) is a non-random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebral malformations. Congenital heart defects (CHDs) have been reported in 5-58% of the patients. We analyze the frequency and anatomic features of CHD in a series of 87 patients with OAVS examined between January 1990 and February 2007 with normal chromosomes, ranging in age between 0.1 and 16.8 years. A twin pregnancy occurred in eight cases (dizygotic in six cases and monozygotic in two). CHDs were diagnosed in 28/87 (32%) patients, and classified into categories of postulated developmental mechanisms including 9 (32%) atrial and ventricular septal defects, 11 (39%) conotruncal defects, 4 (14%) targeted growth defects, two (7%) with situs and looping defects, one (4%) with a left-sided obstructive lesion and one (4%) with patent ductus arteriosus. As noted in other series, the most common individual CHDs were ventricular septal defect (six patients) and tetralogy of Fallot (TOF) (classic or with pulmonary atresia) (six patients). Comparing the frequencies of CHDs groups observed in the OAVS patients with the findings of the Emilia-Romagna Registry which ascertained CHDs prevalence in the general population, conotruncal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS.

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Section: Discussionmentioning

confidence: 61%

Section: Discussionmentioning

confidence: 99%

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Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)

Digilio

Calzolari

Capolino

et al. 2008

American J of Med Genetics Pt A

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“…It is estimated to occur in 1 in 10,000 to 1 in 50,000 births (Araneta et al, 1997), although prevalence statistics are generally unreliable because milder cases may be missed. HFM has been reported to occur more frequently in males (Bennun et al, 1985;Rollnick et al, 1987), diabetics (EwartToland et al, 2000), and twins (Keusch et al, 1991;Lawson et al, 2002). It can occur as part of a Mendelian-inherited syndrome, such as the Townes Brocks syndrome, and it is also one of several malformations that have been associated with isotretinoin exposure (Lammer et al, 1985).…”

Section: Introductionmentioning

confidence: 99%

Vasoactive exposures, vascular events, and hemifacial microsomia

Werler

Sheehan

Hayes

et al. 2004

Birth Defects Research

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“…Recently, laboratory studies suggest that the specific factor, responsible for the clinical presentation of HFM is early loss of first branchial arch neural crest cells (9)(10)(11)(12). Environmental causes for HFM have been proved (including thalidomide, primidione, and retinoic acid administered during the organogenesis (2,11,13,14) and multiple maternities (15) and recently some documents has confirmed the possibility of its genetic inheritance too (16)(17)(18)(19).…”

Section: Introductionmentioning

confidence: 99%