scholarly journals A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Tadatsugu Kinjo ◽  
Keiko Mekaru ◽  
Miyuki Nakada ◽  
Hayase Nitta ◽  
Hitoshi Masamoto ◽  
...  
Keyword(s):  
Body Weight ◽  
Prenatal Diagnosis ◽  
Ultrasound Examination ◽  
Fetal Mri ◽  
Rare Condition ◽  
Japanese Woman ◽  
Cornelia De Lange Syndrome ◽  
Intrauterine Fetal Death ◽  
Old Japanese ◽  
Cornelia De Lange

We report a case of Cornelia de Lange syndrome (CdLS) where prenatal diagnosis was not made even with major anomaly. A 33-year-old Japanese woman was referred to our institution at 23 weeks of gestation because of fetal forearm defect. Ultrasound examination revealed short forearms and short humeri and femurs (–2.1 SD). The fetal estimated body weight was 450 g (–1.3 SD). Fetal MRI at 26 weeks of gestation revealed short forearms and hypoplasty of hand fingers. Fetal growth restriction became evident thereafter, leading to intrauterine fetal death occurring at 29 weeks of gestation. A stillbirth baby was of 798 g in body weight and 33.0 cm in length. External examination showed a low hairline, synophrys, low-set ear, hypertrichosis, and smooth long philtrum with thin lips. The neck appeared short and broad. Finally, CdLS was diagnosed. The prenatal diagnosis might be possible as the arm findings were totally characteristic in a small fetus, regardless of whether an overhanging upper lip was identified. Because CdLS is a rare condition, it is important to consider its possibility as a part of differential diagnosis.

scholarly journals A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics ◽  
2021 ◽  
Vol 11 (1) ◽  
pp. 142
Author(s):  
Anca Maria Panaitescu ◽  
Simona Duta ◽  
Nicolae Gica ◽  
Radu Botezatu ◽  
Florina Nedelea ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Facial Features ◽  
Genetic Condition ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Limb Reduction ◽  
Ultrasound Findings ◽  
Prenatal Management ◽  
Cornelia De Lange

Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth retardation, upper limb reduction defects, hirsutism, and developmental delay. Non-classical phenotypes make this condition heterogeneous. Although CDLS is a heterogeneous clinical and genetic condition, clear diagnostic criteria have been described by specialist consensus. Many of these criteria refer to features that can be seen on prenatal ultrasound. The aim of this paper is twofold: to present the ultrasound findings in fetuses affected by CDLS syndrome; to discuss the recent advances and the limitations in the ultrasound and genetic prenatal diagnosis of CDLS. Our review aims to offer, apart from the data needed to understand the genetics and the prenatal presentation of the disease, a joint perspective of the two specialists involved in the prenatal management of this pathology: the fetal medicine specialist and the geneticist. To better illustrate the data presented, we also include a representative clinical case.

scholarly journals OP06.09: Cornelia de Lange syndrome amenable to early prenatal diagnosis? Lessons from 106 affected fetuses

2019 ◽  
Vol 54 (S1) ◽  
pp. 104-104
Author(s):  
J. Weichert ◽  
M.A. Gembicki ◽  
D.R. Hartge ◽  
C. Eckmann‐Scholz ◽  
M. Czugalinski ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

scholarly journals Membranous Nephropathy With Monoclonal IgM Lambda Deposits in a Patient With IgM Monoclonal Gammopathy: A Case Report

2021 ◽  
Vol 8 ◽  
Author(s):  
Go Hirose ◽  
Takahiro Uchida ◽  
Aki Kojima ◽  
Kentaro Sugisaki ◽  
Muneharu Yamada ◽  
...  
Keyword(s):  
Renal Biopsy ◽  
Membranous Nephropathy ◽  
Monoclonal Gammopathy ◽  
Rare Condition ◽  
Japanese Woman ◽  
Immunofluorescence Staining ◽  
First Case ◽  
Old Japanese ◽  
Repeat Renal Biopsy ◽  
Igm Deposits

We report a case of membranous nephropathy with monoclonal immunoglobulin (Ig)M lambda deposits in a patient with IgM monoclonal gammopathy, in whom histological changes were observed on repeat renal biopsy. A 72-year-old Japanese woman was referred to our hospital because of massive proteinuria. A prominent increase in monoclonal IgM lambda level was identified, and she was diagnosed as having IgM monoclonal gammopathy of undetermined significance. Renal biopsy showed glomerular subepithelial electron-dense deposits that were found to be granular deposits of IgM lambda but not kappa or IgG by immunofluorescence staining, resulting in a diagnosis of membranous nephropathy with monoclonal IgM deposits. The second biopsy, which was performed 2 years later because of exacerbation of her nephrotic syndrome, demonstrated less immunofluorescence staining of IgM, and dominant IgG2 deposition without light chain restriction. Interestingly, immunostaining for thrombospondin-type-1-domain-containing-7A was positive in both renal biopsy tissues, although the second biopsy showed clearly stronger immunoreactivity. The effect of steroid therapy was limited; however, rituximab treatment improved both the hematological and renal abnormalities. Solitary deposition of IgM in membranous nephropathy is a quite rare condition. To our knowledge, this is the first case of monoclonal gammopathy of renal significance presenting as membranous nephropathy with monoclonal IgM deposits, in which chronological immunohistochemical changes were observed and rituximab therapy was effective.

scholarly journals Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.

2017 ◽  
Vol 19 (1) ◽  
pp. 66 ◽  
Author(s):  
Costin Berceanu ◽  
Ioana Andreea Gheonea ◽  
Simona Vlădăreanu ◽  
Monica Mihaela Cîrstoiu ◽  
Radu Vlădăreanu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Multicentre Study ◽  
Skeletal Dysplasia ◽  
Ultrasound Examination ◽  
Fetal Mri ◽  
Prenatal Ultrasound ◽  
Comprehensive Approach ◽  
Biochemical Abnormality ◽  
Fetal Medicine ◽  
Ultrasonographic Assessment

Aim: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination. Fetal MRI was accomplished for selected cases. Results: Nonlethal skeletal dysplasia was suspected and then diagnosed after 17 gestational weeks. The suspicion of osteochondrodysplasia as a reference diagnosis element has required systematic and thorough ultrasound examination. Fetal MRI is a valuable exploration, complementary to prenatal ultrasound bringing in very useful details for the diagnosis of osteochondrodysplasias. The global diagnosis of skeletal dysplasia depends to a great extent on the genetic or biochemical abnormality that causes them. Conclusions: US is always the fundamental screening exploration for fetal assessment in nonlethal osteochondrodysplasias. The details brought by the fetal MRI are useful, and the exploration is harmless for the fetus and the mother. Certain diagnosis cannot be accurate and complete without the contribution of genetics, maternal and fetal medicine, obstetrics or radiology. 

Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome

2013 ◽  
Vol 41 (3) ◽  
pp. 341-342 ◽  
Author(s):  
E. Spaggiari ◽  
E. Vuillard ◽  
S. Khung-Savatovsky ◽  
F. Muller ◽  
J.-F. Oury ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange

scholarly journals PARTIAL CONGENITAL BOWEL OBSTRUCTION BY DUODENAL ATRESIA WINDSOCKS TYPE: CASE REPORT

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
M. Molinaro ◽  
F. Mariscoli ◽  
M. Sica ◽  
E. Bindi ◽  
R. Angotti ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Surgical Treatment ◽  
Bowel Obstruction ◽  
Fetal Mri ◽  
Rare Condition ◽  
Duodenal Atresia ◽  
Prenatal Ultrasound ◽  
Double Bubble ◽  
Degree Of Certainty

<strong>Introduction</strong> Duodenal atresia Windsocks type is a rare condition of congenital bowel obstruction. Thanks to recent technological advancements of prenatal diagnosis it is possible to make a diagnosis of duodenal atresia with high degree of certainty through the radiological sign of “double bubble”, but up to date it is not yet possible to identify the type of duodenal atresia. We report the case of a patient with prenatal diagnosis of “double bubble”. The patient had no other concomitant malformations. <br /><strong>Case Report</strong> The patient came to our attention after prenatal ultrasound that showed a picture of double bubble. At the 27th week of gestation we performed fetal MRI that confirmed the US pattern of double bubble but it did not identify with certainty the type of duodenal atresia. At birth the patient underwent GI rx examination that showed a picture of partial duodenal obstruction compatible with the Windsocks type. On the following day, we performed endoscopy which showed the presence of duodenal membrane, so the patient underwent surgical treatment with a longitudinal duodenal incision in order to treat the wind-sock membrane. After one month a further Upper-GI rx examination showed a regular transit of the contrast. Four months after the first operation the patient underwent new surgical treatment for bowel obstruction by adhesions. The operation was successful and the patient had a complete recover.<br /><strong>Conclusions</strong> Patients with prenatal diagnosis of “double bubble” require a multidisciplinary approach for proper clinical management. Unfortunately it is not currently possible to identify with certainty by prenatal ultrasound the type of duodenal atresia, but in case of incomplete bowel occlusion , the possibility of an atresia Windsocks type should always be considered, especially for setting the right surgical approach.

scholarly journals Cornelia de Lange syndrome: specific features for prenatal diagnosis

2017 ◽  
Vol 49 (5) ◽  
pp. 668-670 ◽  
Author(s):  
E. Thellier ◽  
J. M. Levaillant ◽  
J. Roume ◽  
E. Quarello ◽  
J. P. Bault
Keyword(s):  
Prenatal Diagnosis ◽  
Cornelia De Lange Syndrome ◽  
Cornelia De Lange
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