Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

Altmann, Judith; Horn, Denise; Korinth, Dirk; Eggermann, Thomas; Henrich, Wolfgang; Verlohren, Stefan

doi:10.1002/jcu.22815

Cited by 11 publications

(7 citation statements)

References 20 publications

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“…KOS must also be considered in the differential diagnosis of a patient with omphalocele or other abdominal wall defects along with other phenotypical features of KOS. 40,41 According to the diagnostic flowchart proposed by Ogata and Kagami, methylation analysis should be the first-tier diagnostic testing. Positive methylation analysis (hypermethylation of MEG3/IG DMR with absence of respective hypomethylated DMR) (►Fig.…”

Section: Coat Hanger Sign and M/w Ratiomentioning

confidence: 99%

Kagami-Ogata Syndrome: Case Series and Review of Literature

Sakaria

Mostafavi

Miller

et al. 2021

AJP Rep

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Kagami-Ogata syndrome (KOS) (OMIM #608149) is a genetic imprinting disorder affecting chromosome 14 that results in a characteristic phenotype consisting of typical facial features, skeletal abnormalities including rib abnormalities described as “coat hanger ribs,” respiratory distress, abdominal wall defects, polyhydramnios, and developmental delay. First identified by Wang et al in 1991, over 80 cases of KOS have been reported in the literature. KOS, however, continues to remain a rare and potentially underdiagnosed disorder. In this report, we describe two unrelated male infants with differing initial presentations who were both found to have the characteristic “coat hanger” rib appearance on chest X-ray, raising suspicion for KOS. Molecular testing confirmed KOS in each case. In addition to these new cases, we reviewed the existing cases reported in literature. Presence of polyhydramnios, small thorax, curved ribs, and abdominal wall defects must alert the perinatologist toward the possibility of KOS to facilitate appropriate molecular testing. The overall prognosis of KOS remains poor. Early diagnosis allows for counseling by a multidisciplinary team and enables parents to make informed decisions regarding both pregnancy management and postnatal care.

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Section: Coat Hanger Sign and M/w Ratiomentioning

confidence: 99%

Kagami-Ogata Syndrome: Case Series and Review of Literature

Sakaria

Mostafavi

Miller

et al. 2021

AJP Rep

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“…As listed in Table 1, molecular findings characteristic for TS14, PWS and BWS were detected in patients referred for SRS. Among patients with clinical BWSp, molecular findings characteristic for SRS and PHP were detectable, and this overlap was also reported for KOS14 [25,34]. Furthermore, there are molecular and clinical overlaps between TS14 and PWS, and TNDM and BWS.…”

Section: Clinical and Molecular Overlap Between Imprinting Disordersmentioning

confidence: 65%

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

et al. 2022

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Background Imprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes that are expressed from only one parental allele. Disease may result from changes in coding sequences, copy number changes, uniparental disomy or imprinting defects. Some imprinting disorders are clinically heterogeneous, some are associated with more than one imprinted locus, and some patients have alterations affecting multiple loci. Most imprinting disorders are diagnosed by stepwise analysis of gene dosage and methylation of single loci, but some laboratories assay a panel of loci associated with different imprinting disorders. We looked into the experience of several laboratories using single-locus and/or multi-locus diagnostic testing to explore how different testing strategies affect diagnostic outcomes and whether multi-locus testing has the potential to increase the diagnostic efficiency or reveal unforeseen diagnoses. Results We collected data from 11 laboratories in seven countries, involving 16,364 individuals and eight imprinting disorders. Among the 4721 individuals tested for the growth restriction disorder Silver–Russell syndrome, 731 had changes on chromosomes 7 and 11 classically associated with the disorder, but 115 had unexpected diagnoses that involved atypical molecular changes, imprinted loci on chromosomes other than 7 or 11 or multi-locus imprinting disorder. In a similar way, the molecular changes detected in Beckwith–Wiedemann syndrome and other imprinting disorders depended on the testing strategies employed by the different laboratories. Conclusions Based on our findings, we discuss how multi-locus testing might optimise diagnosis for patients with classical and less familiar clinical imprinting disorders. Additionally, our compiled data reflect the daily life experiences of diagnostic laboratories, with a lower diagnostic yield than in clinically well-characterised cohorts, and illustrate the need for systematising clinical and molecular data.

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“…Neonates confirmed to have genetic disorders had different grades of facial dysmorphism [ 20 , 21 ], with the presence of other anomalies such as: micrognathia, short neck, small dysplastic, low-set ears, and flattened nasal bridge [ 6 ]. Furthermore, genetic syndromes with specific common anomalies were identified: in a study about Costello syndrome, all the neonates presented atrial tachycardia, feeding problems, growth retardation, cardiac structural anomalies, and respiratory distress [ 22 ].…”

Section: Discussionmentioning

confidence: 99%

Transient Polyhydramnios during Pregnancy Complicated with Gestational Diabetes Mellitus: Case Report and Systematic Review

Preda

Ștefan²,

Preda

et al. 2022

Diagnostics

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Polyhydramnios is an obstetrical condition defined as a pathological increase in the amniotic fluid and is associated with a high risk of maternal-fetal complications. Common causes of polyhydramnios include fetal anatomical and genetic abnormalities, gestational diabetes mellitus, and fetal viral infections. We present the case of a 30-year-old Caucasian woman with transient polyhydramnios associated with gestational diabetes mellitus and obstetric complications. The diagnosis was based on the ultrasound assessment of amniotic fluid volume during a common examination at 26 weeks. Two weeks prior, the patient had been diagnosed with gestational diabetes mellitus. After 4 days, the patient was examined, and the amniotic fluid index returned to normal values. At 38 weeks, the patient presented to the emergency room due to lack of fetal active movement. Ultrasound revealed polyhydramnios, the patient was admitted for severe fetal bradycardia, and fetal extraction through emergency cesarian section was performed. Six weeks after birth, the patient underwent an oral glucose tolerance test with normal values, confirming gestational diabetes mellitus. We performed a systematic review of the literature on polyhydramnios, from January 2016 to April 2022, to analyze all recent published cases and identify the most common etiological causes and important aspects related to maternal-fetal outcomes.

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Kagami‐Ogata syndrome: an important differential diagnosis to Beckwith‐Wiedemann syndrome

Cited by 11 publications

References 20 publications

Kagami-Ogata Syndrome: Case Series and Review of Literature

Kagami-Ogata Syndrome: Case Series and Review of Literature

First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders

Transient Polyhydramnios during Pregnancy Complicated with Gestational Diabetes Mellitus: Case Report and Systematic Review

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