45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships

Baynam, Gareth; Goldblatt, Jack

doi:10.1007/s12663-009-0068-x

Cited by 2 publications

(2 citation statements)

References 40 publications

(28 reference statements)

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“…OAVS has been recurrently associated with multiple gestations, predominantly in discordant MZ twins (reviewed in Baynam & Goldblatt, 2009). The incidence of multiple pregnancies is almost 10 times more common in association with OAVS than observed in controls (Lawson et al, 2002).…”

Section: Oculo-auricolo-vertebral Spectrum (Oavs) Facial Asymmetry mentioning

confidence: 99%

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Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis

Baynam¹,

Claes

Craig

et al. 2011

Twin Res Hum Genet

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For decades the relationships of twinning and alterations in body patterning, such as laterality and asymmetry, have been investigated. However, the tools to define and quantify these relationships have been limited and the majority of these studies have relied on associations with subjectively defined phenotypes. The emerging technologies of 3-dimensional (3D) facial scanning and geometric morphometrics are providing the means to establish objective criteria, including measures of asymmetry, which can be used for phenotypic classification and investigations. Additionally, advances in molecular epigenetics provide new opportunities for novel investigations of mechanisms central to early developmental processes, twinning and related phenotypes. We review the evidence for overlapping etiologies of twinning, asymmetry and selected monogenic and complex diseases, and we suggest that the combination of epigenetic investigations with detailed and objective phenotyping, utilizing 3D facial analysis tools, can reveal insights into the genesis of these phenomena.

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Section: Oculo-auricolo-vertebral Spectrum (Oavs) Facial Asymmetry mentioning

confidence: 99%

“…The association of OAVS and MZ twinning with ART has been extensively reviewed (Baynam & Goldblatt, 2009;Wieczorek et al, 2007). Wieczorek et al (Wieczorek, et al, 2007) found associations of reproduction abnormalities and twinning in parents of OAVS affected individuals.…”

Section: Oculo-auricolo-vertebral Spectrum (Oavs) Facial Asymmetry mentioning

confidence: 99%

Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis

Baynam¹,

Claes

Craig

et al. 2011

Twin Res Hum Genet

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Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele

Kavarodi

Zharani

Ali

et al. 2014

J. Maxillofac. Oral Surg.

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Septo-optic dysplasia complex (SODC) is a rare congenital anomaly, characterized with absence of septum pellucidum, optic nerve hypoplasia with or without pituitary dysfunction. Various midline defects are also associated with SODC in addition to its classical findings. We report, for the first time a rare presentation of SODC which is associated with pre-maxillary agenesis along with sphenoidal encephalocele and omphalocele. The case showed resulting median cleft lip and palate along with other multiple congenital defects including hydrocele, inguinal hernia, micropenis and a wide mediastinum.

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45,X/46,XY mosaicism and Oculo-Auriculo-Vertebral Spectrum following an IVF pregnancy: a report and a discussion of their interrelationships

Cited by 2 publications

References 40 publications

Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis

Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis

Septo-optic Dysplasia Complex with Omphalocele, Pre-maxillary Agenesis and Encephalocele

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