Branchio-Oculo-Facial Syndrome with Cleft Lip and Bilateral Dermal Thymus

Bennaceur, S; Buisson, Thierry; Bertolus, Chloé; Couly, G

doi:10.1597/1545-1569(1998)035<0454:bofswc>2.3.co;2

Cited by 8 publications

(12 citation statements)

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“…Two patients had heterochromic irides [Patient 14; Stoetzel et al, 2009, Patient 1.2]. Congenital heart defects were rare (∼8% among total patients), including two atrial septal defects [Patient 24; Gestri et al, 2009 Patient 2], and one tetralogy of Fallot [Reiber et al, 2010a, Patient SP2, previously reported by Bennaceur et al, 1998]. Two probands in our series had bilateral post‐axial polydactyly that was not present in their families.…”

Section: Resultsmentioning

confidence: 59%

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Milunsky¹,

Maher²,

Zhao³

et al. 2010

American J of Med Genetics Pt A

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Branchio-oculo-facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. Major features include cutaneous and ocular abnormalities, characteristic facies, renal, ectodermal, and temporal bone anomalies. Having determined that mutations involving TFAP2A result in BOFS, we studied a total of 30 families (41 affected individuals); 26/30 (87%) fulfilled our cardinal diagnostic criteria. The original family with the 3.2 Mb deletion including the TFAP2A gene remains the only BOFS family without the typical CL/P and the only family with a deletion. We have identified a hotspot region in the highly conserved exons 4 and 5 of TFAP2A that harbors missense mutations in 27/30 (90%) families. Several of these mutations are recurrent. Mosaicism was detected in one family. To date, genetic heterogeneity has not been observed. Although the cardinal criteria for BOFS have been based on the presence of each of the core defects, an affected family member or thymic remnant, we documented TFAP2A mutations in three (10%) probands in our series without a classic cervical cutaneous defect or ectopic thymus. Temporal bone anomalies were identified in 3/5 patients investigated. The occurrence of CL/P, premature graying, coloboma, heterochromia irides, and ectopic thymus, are evidence for BOFS as a neurocristopathy. Intrafamilial clinical variability can be marked. Although there does not appear to be mutation-specific genotype-phenotype correlations at this time, more patients need to be studied. Clinical testing for TFAP2A mutations is now available and will assist geneticists in confirming the typical cases or excluding the diagnosis in atypical cases.

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Section: Resultsmentioning

confidence: 59%

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

Milunsky¹,

Maher²,

Zhao³

et al. 2010

American J of Med Genetics Pt A

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“…In medical databases such as OMIM 1 and LMD (London Medical Database) 6 , there is no description of the association between BOFS and congenital heart defects. However, in our review, we found four confirmed cases of BOFS presenting CHD which included: ostium secundum atrial septal defect (two cases) 3,7 , tetralogy of Fallot (one case) 5 and pulmonary valve stenosis (one case) 8 (Table 1). All patients presented facial findings characteristic of BOFS associated with branchial defects 1,3,5,8 .…”

Section: Discussionmentioning

confidence: 92%

“…However, in our review, we found four confirmed cases of BOFS presenting CHD which included: ostium secundum atrial septal defect (two cases) 3,7 , tetralogy of Fallot (one case) 5 and pulmonary valve stenosis (one case) 8 (Table 1). All patients presented facial findings characteristic of BOFS associated with branchial defects 1,3,5,8 . The present report is the first description of a patient with both BOFS and AVSD, one of the CHD more frequently associated with extracardiac anomalies, especially with Down syndrome 9 .…”

Section: Discussionmentioning

confidence: 92%

“…This case was reevaluated by Lin et al 3 , who considered it atypical, probably unaffected 3 . Although conotruncal heart defects -malformations related to the abnormal migration of cells from the neural crest into the branchial arches, are frequently found in other syndromes with branchial arch anomalies 3 , Bennaceur et al 5 were the only authors to describe a patient with BOFS presenting this type of CHD (a patient with tetralogy of Fallot) 5 . The other reports included heart defects pathogenetically classified in the group of intracardiac blood flow defects 3,7,8 and extracellular matrix anomalies (the present case) (Table 1).…”

Section: Discussionmentioning

confidence: 99%

“…Although renal malformations are frequent in patients with the syndrome, the involvement of other organs, particularly congenital heart defects (CHD) have been rarely described 3,5 . We report a rare case of BOFS associated with CHD.…”

Section: Introductionmentioning

confidence: 99%

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Síndrome brânquio-óculo-facial (BOFS) e cardiopatias congênitas

Rosa¹,

Zen²,

Graziadio³

et al. 2009

Arq. Bras. Cardiol.

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We report the case of a 43-day-old boy with branchiooculo-facial syndrome (BOFS) and congenital heart defect. On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck, supernumerary nipple, hypotonia and decreased deep tendon reflexes. Echocardiography showed the presence of a type-A complete atrioventricular septal defect and patent ductus arteriosus. This description strengthens the possibility of congenital heart defects being part of the spectrum of anomalies seen in BOFS.

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