Semilobar holoprosencephaly in a 46,XY female fetus

Witters, Ingrid; Moerman, Philippe; Muenke, Maximilian; Assche, F Van; Devriendt, Koen; Legius, Eric; Schoubroeck, Dominique Van

doi:10.1002/pd.151

Cited by 10 publications

(4 citation statements)

References 16 publications

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“…The lateral ventricles are enlarged and cavum septi pellucidum is absent as in all forms of HPE (Callen 1994). The present case of HPE associated with proboscis observed in a chromosomally normal fetus, is in keeping with other reports in which HPE was associated with cyclopia in a normal 46,XY karyotype at 16 weeks of gestation (Lee et al 2002) or to an unusual variant of semilobar HPE with middle interhemispheric fusion in a sex-reversal 46,XY karyotype (Witters et al 2001). Although gene analysis was not performed, it is possible to postulate that a microdeletion or mutation in the cascade of those genes could be present (Bendavid et al 2006).…”

Section: Discussionsupporting

confidence: 92%

“…The present case of HPE associated with proboscis observed in a chromosomally normal fetus, is in keeping with other reports in which HPE was associated with cyclopia in a normal 46,XY karyotype at 16 weeks of gestation (Lee et al . 2002) or to an unusual variant of semilobar HPE with middle interhemispheric fusion in a sex‐reversal 46,XY karyotype (Witters et al . 2001).…”

Section: Discussionmentioning

confidence: 99%

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First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus

Tonni¹,

Ventura²,

Centini

et al. 2008

Congenital Anomalies

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A 19-year-old woman was scanned at 10(+6) weeks gestation by 2D-3D ultrasound. The fetus had a crown-rump length of 40.9 mm, with the cephalic pole occupied by a single cystic cavity measuring 10.6 x 7.7 x 6.8 mm and severe hypotelorism associated with mid-facial hypoplasia. 3D ultrasound confirmed the malformations seen on the 2D scan and enabled the visualization of a proboscis and a low-set right ear. Fetal karyotyping was performed by chorionic villus sampling. Due to major fetal malformations of the fetus, the patient opted for termination of pregnancy. First trimester sonographic diagnosis of holoprosencephaly relies on bilateral visualization of choroid plexuses in what has been called the 'butterfly' sign. Differential diagnosis between holoprosencephaly and hydranencephaly may be difficult in the first trimester of pregnancy. However, midline structures such as falx cerebri, interhemispheric fissure and third ventricle are present in hydranencephaly and are absent in alobar holoprosencephaly, and thalami are never fused in hydranencephaly. 3D ultrasound has demonstrated an increased definition of anatomical abnormalities of malformations, compared with 2D ultrasound, and has proven to be crucial in the decision-making process of parents and in later prenatal counseling, especially in this case where necroscopy examination was refused by the parents. Images obtained by 3D ultrasound gave detailed insight into this ventral midline anomaly, depicting much of the disordered prosencephalic development.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus

Tonni¹,

Ventura²,

Centini

et al. 2008

Congenital Anomalies

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“…Prenatal diagnosis of lobar holoprosencephaly is very difficult, and the earliest diagnoses were in the 21st week (Pilu et al, 1992), the semilobar in the 11th week (Witters et al, 2001), and the alobar in 9th week (Blaas et al, 2000). For reasons unknown, in the case we described, holoprosencephaly was not detected during pregnancy in spite of the existence of modern diagnostic devices.…”

Section: Discussionmentioning

confidence: 99%

Rare Disease: Lobar Holoprosencephaly with a Median Cleft Lip—Case Report

Radojicic

Tanić

Pesic

et al. 2016

The Cleft Palate Craniofacial Journal

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Holoprosencephaly is a complex malformation of the brain associated with the median facial defects. Variability of the clinical picture is the characteristic of this anomaly. In most cases, the degree of severity of the facial anomaly correlates with the degree of damage to the brain. This article aims to present a rare case of child with a milder form of brain anomaly combined with a severe form of facial anomaly. The article also presents the application of a feeding stimulator to improve the child's quality of life. The anomaly was diagnosed by postnatal sonography of the brain, magnetic resonance imaging of the endocranium, and three-dimensional computed tomography of the craniofacial skeleton.

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“…to defects in the hormone-independent phase remain unexplained at the molecular level. [4][5][6][7][8][9] RSPO1, LARS2, HSD17B4, HARS2, TWNK, ERAL1, and CLPP-related syndromic gonadal dysgeneses have been reported in 46,XX individuals, while ARX, ATRX, DHH, GATA4, HHAT, SOX9, WT1, and ZFPM2 constitute some of the causal genes for the syndromic outcome for 46,XY patients. 2,10 Extragonadal findings in these syndromes vary from intellectual disability (ID) to congenital organ malformations, such as heart and kidney anomalies, emphasizing the intricate role of single genes in early embryonic stages of development.…”

Section: Most Cases Of Xy and XX Disorders Of Gonadal Development Duementioning

confidence: 99%

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis

et al. 2021

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Homozygous variants in PPP2R3C have been reported to cause a syndromic 46,XY complete gonadal dysgenesis phenotype with extragonadal manifestations (GDRM, MIM# 618419) in patients from four unrelated families, whereas heterozygous variants have been linked to reduced fertility with teratozoospermia (SPGF36, MIM# 618420) in male carriers. We present eight patients from four unrelated families of Turkish and Indian descent with three different germline homozygous PPP2R3C variants including a novel in-frame duplication (c.639_647dupTTTCTACTC, p. Ser216_Tyr218dup). All patients exhibit recognizable facial dysmorphisms allowing gestalt diagnosis. In two 46,XX patients with hypergonadotropic hypogonadism and nonvisualized gonads, primary amenorrhea along with absence of secondary sexual characteristics and/or unique facial gestalt led to the diagnosis. 46,XY affected individuals displayed a spectrum of external genital phenotypes from ambiguous genitalia to complete female. We expand the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to both XY and XX gonadal dysgenesis. Our findings supported neither ocular nor muscular involvement as major criteria of the syndrome. We also did not encounter infertility problems in the carriers. Since both XX and XY individuals were affected, we hypothesize that PPP2R3C is essential in the early signaling cascades controlling sex determination in humans.

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Semilobar holoprosencephaly in a 46,XY female fetus

Cited by 10 publications

References 16 publications

First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus

First trimester three‐dimensional transvaginal imaging of alobar holoprosencephaly associated with proboscis and hypotelorism (ethmocephaly) in a 46,XX fetus

Rare Disease: Lobar Holoprosencephaly with a Median Cleft Lip—Case Report

Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis

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