Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Vendramini-Pittoli, Siulan; Candido-Souza, Rosana M; Quiezi, Rodrigo Gonçalves; Zechi-Ceide, Roseli Maria; Kokitsu-Nakata, Nancy Mizue; Jehee, Fernanda Sarquis; Ribeiro-Bicudo, Lucilene Arilho; FitzPatrick, David R.; Guion‐Almeida, Maria Leine; Richieri-Costa, Antônio

doi:10.1055/s-0039-3402047

Cited by 2 publications

(1 citation statement)

References 40 publications

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“…The data available is mostly in the form of retrospective studies or case reports that are hugely biased due to maternal recall. 11 Another problem is the fact that the majority of such studies are focused on abnormalities and do not report sufficiently on pregnancy outcomes and risk factors. 7 Our study has a prospective case-control design, and we also collected data on risk factors to ensure a better comparison between cases and controls.…”

Section: Discussionmentioning

confidence: 99%

Comparison of Pregnancy Outcomes between Ongoing Pregnancies after Accidental Misoprostol Use and Normal Pregnancies: A Case-control Study

Izhar¹,

Husain²,

Tahir³

et al. 2023

International Journal of Infertility &Amp; Fetal Medicine

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Aim: Literature reports are conflicting regarding the association of anomalies with misoprostol use. We conducted this study to assess the association of misoprostol with congenital abnormalities. Materials and methods: In this prospective case-control study, women with early pregnancy were recruited from the antenatal clinic and divided into cases and controls on the basis of exposure to misoprostol. They attended antenatal visits, delivered at the hospital, and their babies were examined for abnormalities before discharge. Results: There were 22 (9.2%) babies with abnormalities in the misoprostol group and 16 (6.2%) abnormalities in controls (p = 0.208). When stratified according to the type of exposure to misoprostol, abnormalities were significantly higher in those with intended exposure than in accidental exposure (12.3 vs 3.5%, p = 0.023). Misoprostol exposure was not significantly associated with abnormalities. Controls were less likely to have abnormalities than those with misoprostol exposure, but this did not remain significant after all cofounders were added to the model. Conclusion: Exposure to misoprostol leads to more congenital abnormalities. However, chances of having a baby with an abnormality are not significantly increased with misoprostol exposure when all other risk factors are controlled for. These findings may aid clinicians in reassuring low-risk women with accidental exposure in early pregnancy. Clinical significance: Women with accidental exposure to misoprostol are less likely to have congenital abnormalities than those with voluntary exposure because they were found to ingest a lesser amount of the drug.

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Section: Discussionmentioning

confidence: 99%

Comparison of Pregnancy Outcomes between Ongoing Pregnancies after Accidental Misoprostol Use and Normal Pregnancies: A Case-control Study

Izhar¹,

Husain²,

Tahir³

et al. 2023

International Journal of Infertility &Amp; Fetal Medicine

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Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder

Indrieri

Bazzoli

2021

Genes

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Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure. Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare, unconventional mitochondrial disorder which presents as a developmental disease; its main clinical features include microphthalmia with different degrees of severity, linear skin lesions, and central nervous system malformations. The molecular basis of this disorder has been elusive for several years. Mutations were eventually identified in three X-linked genes, i.e., HCCS, COX7B, and NDUFB11, which are all endowed with defined roles in the mitochondrial respiratory chain. A peculiar feature of this condition is its inheritance pattern: X-linked dominant male-lethal. Only female or XX male individuals can be observed, implying that nullisomy for these genes is incompatible with normal embryonic development in mammals. All three genes undergo X-inactivation that, according to our hypothesis, may contribute to the extreme variable expressivity observed in this condition. We propose that mitochondrial dysfunction should be considered as an underlying cause in developmental disorders. Moreover, LSDMCA should be taken into consideration by clinicians when dealing with patients with microphthalmia with or without associated skin phenotypes.

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Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

Cited by 2 publications

References 40 publications

Comparison of Pregnancy Outcomes between Ongoing Pregnancies after Accidental Misoprostol Use and Normal Pregnancies: A Case-control Study

Comparison of Pregnancy Outcomes between Ongoing Pregnancies after Accidental Misoprostol Use and Normal Pregnancies: A Case-control Study

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder

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