A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

Prasad, K.N.V.; Rajha, Arvind; Vegi, Pradeep Kumar

doi:10.1155/2013/591350

Cited by 6 publications

(5 citation statements)

References 8 publications

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“…[ 3 4 ] Discordant involvement has been reported in twin and triplet pregnancies with only one sibling affected. [ 5 6 ] GS occurs in infants of diabetic mothers. This anomaly has been diagnosed from intrauterine period to late adulthood.…”

Section: Discussionmentioning

confidence: 99%

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy

Rad

2014

Ann Pediatr Card

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Goldenhar syndrome (GS) or oculo-auriculo-vertebral dysplasia (OAVD), involves a wide variety of organ systems. Cardiovascular anomalies are among the frequent malformations. The purpose of this report is to introduce a male case of a dizygotic twin pregnancy with GS and right circumflex aortic arch (RCAA), severe coarctation, hypoplastic aortic arch, aberrant right subclavian artery, vascular ring, bilateral renal artery stenosis, and mild Dandy-Walker syndrome. The embryology of RCAA and coarctation is revisited.

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Section: Discussionmentioning

confidence: 99%

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy

Rad

2014

Ann Pediatr Card

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“…Non-genetic causes are also hypothesised for this spectrum including in utero environmental factors. Indeed, twin pregnancies are associated with higher risk of OAVS phenotype and twin patients with OAVS can present concordant and discordant phenotypes even in monozygotic twins 66–70. Several cohorts of patients with OAVS reported significantly higher rates of twin pregnancies (ranging from 3.9% to 14%), compared with the general population (2%) 1 13 14 45 52 71…”

Section: Aetiologiesmentioning

confidence: 99%

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

et al. 2022

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Oculo-auriculo-vertebral spectrum (OAVS) or Goldenhar syndrome is due to an abnormal development of first and second branchial arches derivatives during embryogenesis and is characterised by hemifacial microsomia associated with auricular, ocular and vertebral malformations. The clinical and genetic heterogeneity of this spectrum with incomplete penetrance and variable expressivity, render its molecular diagnosis difficult. Only a few recurrent CNVs and genes have been identified as causatives in this complex disorder so far. Prenatal environmental causal factors have also been hypothesised. However, most of the patients remain without aetiology. In this review, we aim at updating clinical diagnostic criteria and describing genetic and non-genetic aetiologies, animal models as well as novel diagnostic tools and surgical management, in order to help and improve clinical care and genetic counselling of these patients and their families.

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“…Nevertheless, the majority of cases are sporadic. Defects in chromosomes 5, 9, 14, 18, 22, and X has been described in some cases (Ala-Mello et al, 2008;Ballesta-Martínez et al, 2013;Hennekam, Krantz, & Allanson, 2010;Kelberman et al, 2001;Northup, Matalon, Hawkins, Matalon, & Velagaleti, 2010;Ou et al, 2008;Zielinski et al, 2014), but the lack of a specific genetic alteration and the discordant phenotype among monozygotic twins (Boles, Bodurtha, & Nance, 1987;Kelberman et al, 2001;Lawson et al, 2002;Prasad, Rajha, & Vegi, 2013;Poswillo, 1973;Werler, Sheehan, Hayes, Padwa, & Mitchell, 2004;Wieczorek et al, 2007) are not yet conclusive for a unique genetic etiology for HFM.…”

Section: Introductionmentioning

confidence: 99%

Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia

Cohen

Gaiero

et al. 2017

American J of Med Genetics Pt A

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Hemifacial microsomia (HFM) is a rare, multisystemic congenital disease with estimated frequency of 1/26370 births in Europe. Most cases are sporadic and caused by unilateral abnormal morphogenesis of the first and second pharyngeal arches. The aim of this study is to define the types and frequency of maxillofacial and systemic malformations in HFM patients. This is a case series study of patients with HFM evaluated at a single institution. Data were acquired through history, physical examination, photographs, diagnostic radiology, and laboratory and analyzed by the FileMakerPro database on 95 patients (54F; 41M) of which 89 met the inclusion criteria. Mandibular hypoplasia was observed in 86 patients with right-side preponderance (50). One patient had bilateral mandibular hypoplasia. Seventy-four had external ear anomalies (anotia or microtia). Eleven had bilateral malformed ears. Hearing impairment, associated with stenosis or atresia of the external ear canal, was found in 69 patients (eight with bilateral canal defects). Ocular anomalies were seen in 41 (23 with dermoid cysts) and 39 had orbital malformations. Facial nerve paralysis was observed in 38 patients. Cleft lip/palate (10), preauricular tags (55), and macrostomia (41) were also described. A total of 73/86 had systemic malformations, mainly vertebral (40), genitourinary (25), and cardiovascular (28). Sixteen had cerebral anomalies (four with intellectual disability). All patients suspected of HFM should undergo a complete systematic clinical and imaging investigation to define the full scope of anomalies. Since the disease is rare and complex, affected patients should be monitored by specialized multidisciplinary team centers.

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A Case of Monozygotic Twins: The Value of Discordant Monozygotic Twins in Goldenhar Syndrome—OMIM%164210

Cited by 6 publications

References 8 publications

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy

Goldenhar syndrome with right circumflex aortic arch, severe coarctation and vascular ring in a twin pregnancy

Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease

Maxillofacial features and systemic malformations in expanded spectrum Hemifacial Microsomia

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