Craniofacial abnormalities among patients with Edwards Syndrome

Rosa, Rafael Fabiano Machado; Rosa, Rosana Cardoso M.; Lorenzen, Marina Boff; Zen, Paulo Ricardo Gazzola; Graziadio, Carla; Paskulin, Giorgio Adriano

doi:10.1590/s0103-05822013000300004

Cited by 8 publications

(11 citation statements)

References 21 publications

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“…Two pedonculated skin tags were found anterior to the left ear in a 2‐month‐old female [Smith et al, ]. A recent study reported preauricular tags, which are usually considered as malformative benign tumors, in 10% of children with trisomy 18 [Rosa et al, ]. A red pedonculated hamartoma occupied the left cheek of a newborn girl who later developed hepatoblastomas [Kitanovski et al, ].…”

Section: Resultsmentioning

confidence: 99%

A tumor profile in Edwards syndrome (trisomy 18)

Satgé¹,

Nishi²,

Sirvent³

et al. 2016

American J of Med Genetics Pt C

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Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes. The literature covers 45 malignancies: 29 were liver cancers, mainly hepatoblastomas found in Japanese females; 13 were kidney tumors, predominantly nephroblastomas; 1 was neuroblastoma; 1 was a Hodgkin disease; and 1 was acute myeloid leukemia in an infant with both trisomy 18 and type 1 neurofibromatosis. No instances of the most frequent malignancies of early life-cerebral tumors, germ cell tumors, or leukemia--are reported in children with pure trisomy 18. Tumor occurrence does not appear to correlate with body weight, tissue growth, or cancer genes mapping to chromosome 18. Importantly, the most recent clinical histories report successful treatment; this raises ethical concerns about cancer treatment in infants with Edwards syndrome. In conclusion, knowledge of the Edwards' syndrome tumor profile will enable better clinical surveillance in at-risk organs (i.e., liver, kidney). This knowledge also provides clues to understanding oncogenesis, including the probably reduced frequency of some neoplasms in infants and children with this genetic condition. © 2016 Wiley Periodicals, Inc.

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Section: Resultsmentioning

confidence: 99%

A tumor profile in Edwards syndrome (trisomy 18)

Satgé¹,

Nishi²,

Sirvent³

et al. 2016

American J of Med Genetics Pt C

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“…The most frequently affected systems in trisomy 18 were the craniofacial, anomalies of the extremities, cardiac, respiratory, central nervous system, genitourinary, and, to a lesser extent thorax, abdomen, and intestine (Rosa et al ., 2013a; Rosa et al, 2013b). However, limited studies on fetuses with trisomy 18 are available in the literature from a perinatal cohort except for the one report describing five fetuses with trisomy 18 following autopsy (Sandal et al, 2022).…”

Section: Discussionmentioning

confidence: 99%

“…The risk of recurrence of trisomy 18 in a family with an affected child is 1% (Fick and Sexson Tejtel, 2021). Diagnoses at the prenatal period were based on screening by maternal age and maternal serum markers, ultrasonography, and cytogenetic studies followed by chorionic villi sampling or amniocentesis (Rosa et al ., 2013a; Rosa et al, 2013b).…”

Section: Introductionmentioning

confidence: 99%

“…Trisomy 18 can present with a varying degree of complex, severe and heterogenous clinical phenotypes involving multiple organ systems with more than 100 different anomalies reported in the literature in the prenatal to postnatal period; along with the high mortality rate which makes the understanding of syndrome pattern quite challenging (Rosa et al ., 2013a; Rosa et al, 2013b). Also, in general, fetal phenotypes are less well characterized compared to postnatal period and are often unique for the genetic disorder identified (Dhombres et al , 2022).…”

Section: Introductionmentioning

confidence: 99%

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Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

Shravya,

Girisha,

Nayak

2023

Clinical Dysmorphology

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Trisomy 18 is the second most common aneuploidy after trisomy 21. It presents with varying degrees of heterogeneous clinical phenotypes involving multiple organ systems, with a high mortality rate. Clinical assessment of fetal trisomy 18 is always challenging. In this study, we describe the phenotypes of the fetuses with trisomy 18 from a perinatal cohort. We reviewed fetuses with trisomy 18 in referrals for perinatal autopsy over the period of 15 years. A detailed phenotyping of the fetuses with trisomy 18 was executed by perinatal autopsy. Appropriate fetal tissues were obtained to perform genomic testing. We observed trisomy 18 in 16 fetuses (2%) in our cohort of 784 fetal/neonatal losses and a perinatal autopsy was performed on all of them. Abnormal facial profile was the most frequent anomaly (10/16, 62%) followed by anomalies of the extremities (9/16, 56%), and cardiac defects (6/16, 37%). We also observed esophageal atresia, diaphragmatic hernia, and neural tube defect. The study represents one of the largest cohorts of trisomy 18 from a perinatal center from a developing country and highlights the clinical heterogeneity attributed to trisomy 18. We also report a recurrence of trisomy 18 in a family.

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“…The very minor and focal cranial shape changes seen with bathrocephaly have no known medical or neurocognitive consequences, 30 yet the phenotype should be distinguished from other conditions with a prominent occiput such as sagittal craniosynostosis, Edwards syndrome (>50%), and Beckwith-Wiedemann syndrome (72%). 31 , 32 Fortunately, most cases of bathrocephaly can be diagnosed with clinical examination (isolated occipital projection with no other cranial shape changes and a palpable transverse ridge across the occiput) and do not require a confirmatory CT scan.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Mendosal Suture Patency in Infants Up to the Age of 18 Months

Escandón

Duarte-Bateman

Mantilla-Rivas

et al. 2022

Plastic and Reconstructive Surgery - Global Open

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Background: The mendosal suture joins the interparietal and inferior portions of the occipital bone. Persistent patency of this suture can result in bathrocephaly, an abnormal occipital projection. This study aims to determine normal temporal fusion of the mendosal suture and cranial shape of the patients with persistent suture patency. Methods: A retrospective review of head CT scans in patients aged 0–18 months who presented to the emergency department between 2010 and 2020 was completed. Presence and patency of the mendosal suture were assessed. Cranial shape analysis was conducted in the cases that presented with 100% suture patency and age-matched controls. An exponential regression model was used to forecast the timing of suture fusion. Results: In total, 378 patients met inclusion criteria. Median age at imaging was 6.8 months (IQR 2.9, 11.6). Initiation of mendosal suture fusion was observed as early as 4 days of age and was completed in all instances except one by age 18 months. Most patients had either a complete or partial suture fusion (66.7% versus 30.7%, respectively), and 2.6% of patients had 100% suture patency. Cranial shape analysis demonstrated increased occipital projection in patients with 100% suture patency compared with their controls. Exponential regression model suggested that the mendosal suture closure begins prenatally and typically progresses to full closure at the age of 6 months. Conclusions: Prevalence of a patent mendosal suture was 2.6% overall. Mendosal suture fusion initiates in-utero and completes ex-utero within the first 18 months of life. Delayed closure results in greater occipital projection.

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Craniofacial abnormalities among patients with Edwards Syndrome

Cited by 8 publications

References 21 publications

A tumor profile in Edwards syndrome (trisomy 18)

A tumor profile in Edwards syndrome (trisomy 18)

Comprehensive phenotyping of fetuses with trisomy 18: a perinatal center experience

Prevalence of Mendosal Suture Patency in Infants Up to the Age of 18 Months

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