Compendium

Bergsma, Daniel

doi:10.1007/978-1-349-05131-1_2

Cited by 3 publications

(1 citation statement)

References 1,807 publications

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“…Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome. Genetic causes include chromosomal abnormalities (Patau syndrome, mosaic trisomy 9, 13q deletion syndrome) or monogenetic Mendelian disorders (CHARGE syndrome, Fraser syndrome, oculofaciocardiodental syndrome) [ 9 ]. Some environmental and maternal risk factors have been implicated as causes of microphthalmia and anophthalmia, either in isolation or in combination with genetic causes.…”

Section: Introductionmentioning

confidence: 99%

Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings

Lamanna,

Dellino,

Cascardi

et al. 2023

JCM

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Second-trimester 2D ultrasound (US) assessment of the fetal anatomy, as proposed by worldwide guidelines, allows detecting the majority of fetal malformation. However, the detection rates of fetal facial anomalies seem to still be low, mostly in cases of isolated facial malformation. The purpose of this research was to assess and analyze the concordance between the antenatal imaging findings from second-trimester US screening and the results of fetal postmortem autopsy. Between January 2010 and January 2020, there were 43 cases where fetuses with prenatal ultrasound diagnosis of a face abnormality, associated or not with a genetic syndrome or chromosomal disorder, following intrauterine death (IUD) or termination of pregnancy (TOP) after the 13 weeks of pregnancy, underwent autopsy in the Pathological Anatomy section of Bari Polyclinic specializing in feto-placental autopsies. The diagnosis of the fetal facial defects at ultrasound was compared with the findings at autopsy in all cases. A very high level of agreement between prenatal ultrasound and autopsy findings was found for facial abnormalities associated with genetic syndromes or numerical abnormality of chromosomes. A lower level of concordance was instead found in isolated facial defects or those associated with other organ anomalies, but not associated with genetic syndrome or numerical chromosome anomaly. A detailed examination of aborted fetuses led to successful quality control of early-second-trimester ultrasound detection of facial anomalies; however, it was less accurate for the isolated ones. It is, thus, reasonable to propose a systematic early-second-trimester prenatal ultrasound screening for facial anatomy by operators specialized in fetal medicine field, using 2D, 3D, and 4D techniques (two-, three-, and four-dimensional ultrasound).

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Section: Introductionmentioning

confidence: 99%

Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings

Lamanna,

Dellino,

Cascardi

et al. 2023

JCM

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Zimmermann–Laband syndrome with bilateral developmental cataract – a new association?

Shah

Gupta

Ghose

2004

Int J Paed Dentistry

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An unusual case of Zimmermann-Laband syndrome in a young male child with an unreported association of bilateral developmental cataract is presented. The pathognomonic triad of gingival fibromatosis, aplastic or hypoplastic distal phalanges with absent nails, and enlargement of soft tissues of the face were obvious, besides the known moderate learning disability and mild hearing loss. The case is discussed in the light of relevant literature. To the best of our knowledge, this is the first report of early developmental cataracts in association with the Zimmermann-Laband syndrome. Besides detection and timely recognition of the syndrome to allow adequate dental care, ophthalmic screening at periodic intervals is merited to improve the overall quality of life for these patients.

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Xeroderma Pigmentosum: Relato de Dois Casos

Herter,

Godoy

et al. 2023

Rev. Bras. Cancerol.

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O Xeroderma pigmentosum é uma doença grave, rara e hereditária. Seu diagnóstico é essencialmente clínico e, até o momento, não há uma terapêutica totalmente eficaz para a doença básica. Baseados nisso, os autores revisam na literatura a etiologia, etiopatogenia e patologia desta doença. A seguir, relatam dois casos clínicos tratados no Hospital Santa Rita da Associação Sulriograndense de Combate ao Câncer, enfatizando o tratamento clínico e cirúrgico da doença básica e suas lesões pré-cancerosas e cancerosas.

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Compendium

Cited by 3 publications

References 1,807 publications

Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings

Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings

Zimmermann–Laband syndrome with bilateral developmental cataract – a new association?

Xeroderma Pigmentosum: Relato de Dois Casos

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