scholarly journals 3q27.1 Microdeletion Causes a Clinically Recognizable Syndrome Characterized by Severe Prenatal and Postnatal Growth Restriction and Neurodevelopmental Abnormalities

2021 ◽  
Author(s):  
Subit Barua ◽  
Elaine Pereira ◽  
Vaidehi Jobanputra ◽  
Kwame Anyane-Yeboa ◽  
Brynn Levy ◽  
...  
Keyword(s):  
Clinical Features ◽  
Copy Number Variants ◽  
Postnatal Growth ◽  
Growth Restriction ◽  
Potential Candidate ◽  
Case Presentation ◽  
Feeding Difficulties ◽  
Genomic Location ◽  
The Common ◽  
Neurodevelopmental Abnormalities

Abstract BackgroundConstitutional deletions/rearrangements involving chromosome 3q are uncommon and overlapping microdeletions of chromosome 3q26-3q28 have only been reported in eight individuals. The common phenotype observed in these individuals include severe intrauterine growth restriction and postnatal growth impairment, feeding difficulties, characteristic facial features, feet abnormalities and developmental delay. The most striking clinical features shared among all reported cases is severe prenatal and postnatal growth restriction and neurodevelopmental abnormalities. Case presentationWe identified two additional individuals with overlapping deletions and shared clinical features by high-resolution SNP oligonucleotide microarray, and refined the smallest region of overlap (SRO) to a 1.2 Mb genomic location in chromosome 3q27.1 by reviewing and comparing all published cases. We evaluated the SRO using ACMG/ClinGen current recommendations for classifying copy number variants (CNVs), and discussed the contribution of the genes deleted in the SRO to the abnormal phenotype observed in these individuals. ConclusionsThis study provides further evidence supporting the existence of a novel 3q26q28 microdeletion syndrome and suggests that haploinsufficiency of potential candidate genes, DVL3, AP2M1, and PARL in the SRO in 3q27.1 is responsible for the phenotype. It also demonstrates the clinical utility of the newly released ACMG/Clingen standards for CNV interpretation.

scholarly journals Isolated Hypomethylation of IGF2 Associated with Severe Hypoglycemia Responsive to Growth Hormone Treatment

Diagnostics ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 749
Author(s):  
Sarah C. Grünert ◽  
Uta Matysiak ◽  
Franka Hodde ◽  
Gunda Ruzaike ◽  
Ekkehart Lausch ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Intrauterine Growth Restriction ◽  
Severe Hypoglycemia ◽  
Hormone Treatment ◽  
Postnatal Growth ◽  
Growth Restriction ◽  
Poor Growth ◽  
Feeding Difficulties ◽  
Intrauterine Growth ◽  
Pathogenic Variants

Hypomethylation of H19 and IGF2 can cause Silver–Russell syndrome (SRS), a clinically and genetically heterogeneous condition characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, craniofacial abnormalities, body asymmetry, hypoglycemia and feeding difficulties. Isolated hypomethylation of IGF2 has been reported in single cases of SRS as well. Here, we report on a 19-month-old patient who presented with two episodes of hypoglycemic seizures. No intrauterine growth restriction was observed, the patient did not present with SRS-typical facial features, and postnatal growth in the first months of life was along the lower normal percentiles. Exome sequencing did not reveal any likely pathogenic variants explaining the phenotype; however, hypomethylation studies revealed isolated hypomethylation of IGF2, while the methylation of H19 appeared normal. Hypoglycemia responded well to growth hormone therapy, and the boy showed good catch-up growth. Our case demonstrates that SRS and isolated IGF2 hypomethylation should be considered early in the diagnosis of recurrent hypoglycemia in childhood, especially in combination with small gestational age and poor growth.

scholarly journals Silver Russell syndrome in a  preterm girl with 8q12.1 deletion encompassing PLAG1.

2021 ◽  
Author(s):  
José Ramón Fernández-Fructuoso ◽  
Cristina De la Torre-Sandoval ◽  
Madeleine Harbison ◽  
Sandra Chantot-bastaraud ◽  
I. Temple ◽  
...  
Keyword(s):  
Clinical Features ◽  
Growth Retardation ◽  
Intrauterine Growth Retardation ◽  
De Novo ◽  
Postnatal Growth ◽  
Postnatal Growth Retardation ◽  
Feeding Difficulties ◽  
Intrauterine Growth ◽  
Molecular Features ◽  
Silver Russell Syndrome

Silver Russell syndrome (SRS) is a congenital disorder characterised by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases IGF2 expression and produces a Silver Russell syndrome like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.

scholarly journals Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases

Genes ◽  
2021 ◽  
Vol 12 (4) ◽  
pp. 588
Author(s):  
Pierpaola Tannorella ◽  
Daniele Minervino ◽  
Sara Guzzetti ◽  
Alessandro Vimercati ◽  
Luciano Calzari ◽  
...  
Keyword(s):  
Growth Retardation ◽  
Molecular Mechanisms ◽  
Uniparental Disomy ◽  
Postnatal Growth ◽  
Molecular Diagnostic ◽  
Growth Delay ◽  
Molecular Defect ◽  
Maternal Uniparental Disomy ◽  
Feeding Difficulties ◽  
Silver Russell Syndrome

Silver Russell Syndrome (SRS, MIM #180860) is a rare growth retardation disorder in which clinical diagnosis is based on six features: pre- and postnatal growth failure, relative macrocephaly, prominent forehead, body asymmetry, and feeding difficulties (Netchine–Harbison clinical scoring system (NH-CSS)). The molecular mechanisms consist in (epi)genetic deregulations at multiple loci: the loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5) (50%) and the maternal uniparental disomy of chromosome 7 (UPD(7)mat) (10%) are the most frequent causes. Thus far, about 40% of SRS remains undiagnosed, pointing to the need to define the rare mechanisms in such a consistent fraction of unsolved patients. Within a cohort of 176 SRS with an NH-CSS ≥ 3, a molecular diagnosis was disclosed in about 45%. Among the remaining patients, we identified in 3 probands (1.7%) with UPD(20)mat (Mulchandani–Bhoj–Conlin syndrome, OMIM #617352), a molecular mechanism deregulating the GNAS locus and described in 21 cases, characterized by severe feeding difficulties associated with failure to thrive, preterm birth, and intrauterine/postnatal growth retardation. Our patients share prominent forehead, feeding difficulties, postnatal growth delay, and advanced maternal age. Their clinical assessment and molecular diagnostic flowchart contribute to better define the characteristics of this rare imprinting disorder and to rank UPD(20)mat as the fourth most common pathogenic molecular defect causative of SRS.

scholarly journals Excited delirium syndrome from psychostimulant abuse can mimic a violent scene of death

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Shatishraj Jothee ◽  
Mohamed Swarhib Shafie ◽  
Faridah Mohd Nor
Keyword(s):  
Clinical Manifestations ◽  
The Body ◽  
Law Enforcement Agencies ◽  
Manner Of Death ◽  
Case Presentation ◽  
Excited Delirium ◽  
The Common ◽  
Violent Scene ◽  
Naked Body ◽  
Psychostimulant Abuse

Abstract Background Previous reported cases on excited delirium syndrome studied on the common clinical manifestations of the syndrome. The usual forensics implication for the syndrome is that death commonly is associated with restraint procedures by law enforcement agencies; however, not many cases reported highlights the difficulties in attributing a violent scene of death to the syndrome. Case presentation We present a case of a partially naked body found in an apartment unit under suspicious circumstances with multiple injuries. The scene of death was violent, and the body was found with blood wiped all over the floor and walls. Investigators believed a violent crime had occurred, and a suspect was reprimanded. However, upon autopsy, it was found that all injuries were superficially inflicted and were unlikely to have been part of an act of commission or caused his death. Internal examination found no remarkable pathology. Toxicology revealed a presence of psychostimulants, that is, methamphetamine, MDMA, and ethyl alcohol. Reconstruction of events by the witness, who was initially suspected of the ‘murder’, revealed that the injuries and his death could likely be explained by an episode of excited delirium. Conclusion The case highlights the challenges faced when attributing excited delirium syndrome as a cause of death. The syndrome can present with injuries from aggressive or bizarre behaviour, coupled with the destruction of property, which may confuse investigators on the possible manner of death.

Somatic growth and the risks of bronchopulmonary dysplasia and pulmonary hypertension: connecting epidemiology and physiology

2019 ◽  
Vol 97 (3) ◽  
pp. 197-205 ◽  
Author(s):  
Mark A. Underwood ◽  
Stephen Wedgwood ◽  
Satyan Lakshminrusimha ◽  
Robin H. Steinhorn
Keyword(s):  
Pulmonary Hypertension ◽  
Bronchopulmonary Dysplasia ◽  
Somatic Growth ◽  
Postnatal Growth ◽  
Pulmonary Complications ◽  
Growth Restriction ◽  
Extreme Prematurity ◽  
Poor Growth ◽  
Increased Risk ◽  
Poor Nutrition

In the premature infant, poor growth in utero (fetal growth restriction) and in the first weeks of life (postnatal growth restriction) are associated with increased risk for bronchopulmonary dysplasia and pulmonary hypertension. In this review, we summarize the epidemiologic data supporting these associations, present a novel rodent model of postnatal growth restriction, and review 5 promising mechanisms by which poor nutrition may affect the developing lung. These observations support the hypothesis that nutritional and (or) pharmacologic interventions early in life may be able to decrease risk of the pulmonary complications of extreme prematurity.

scholarly journals Primary Osteosarcoma of the Breast: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Anna Rizzi ◽  
Alberto Soregaroli ◽  
Claudia Zambelli ◽  
Fausto Zorzi ◽  
Stefano Mutti ◽  
...  
Keyword(s):  
Case Report ◽  
Adjuvant Chemotherapy ◽  
Soft Tissue ◽  
Clinical Features ◽  
Optimal Treatment ◽  
Skeletal System ◽  
Case Presentation ◽  
Primary Osteosarcoma ◽  
Haematogenous Spread ◽  
Tissue Form

Introduction. Primary osteosarcoma of the breast is a rare soft-tissue form of osteosarcoma without involvement of the skeletal system. Due to the rarity of the disease, its clinical features and optimal treatment remain unclear.Case Presentation. This case report deals with a 62-year-old woman with pure osteosarcoma of the breast.Conclusions. The prognosis of primary osteosarcoma of the breast is poor. Recurrence is frequent, and it is often associated with haematogenous spread of the disease to the lung. Treatment follows the model of sarcomas affecting other locations and must be planned in a multidisciplinary fashion. Adjuvant chemotherapy should be considered for patients with tumors showing aggressive features.

scholarly journals Diferential dagnosis in twin-to-twin transfusion syndrome: methodology and clinical cases

2017 ◽  
Vol 66 (1) ◽  
pp. 72-76
Author(s):  
Ekaterina S Nekrasova
Keyword(s):  
Clinical Features ◽  
Selective Growth ◽  
Growth Restriction ◽  
Monochorionic Twins ◽  
Common Features ◽  
Clinical Cases

In monochorionic twins there exist some specific complications as twin-to-twin transfusion syndrome and selective growth restriction that could have some common features. Also in case of non-immune hydrops of one of the fetuses it could mimic the clinical features of severe twin-to-twin transfusion. In this article we describe three cases of monochorionic twins with different conditions and discuss the best way to differentiate between these diagnoses.

Hair-Grooming Syncope Seizures

PEDIATRICS ◽  
1993 ◽  
Vol 91 (4) ◽  
pp. 836-838
Author(s):  
DONALD W. LEWIS ◽  
L. MATTHEW FRANK
Keyword(s):  
Clinical Features ◽  
Temporal Relationship ◽  
Epileptic Seizures ◽  
Breath Holding ◽  
Night Terrors ◽  
The Common ◽  
At Home

Pediatricians are commonly consulted to evaluate children following their first, apparently unprovoked, convulsion. Keenly aware of the old adage that "all that shakes isn't epilepsy," we are ever mindful of the common mimickers of epileptic seizures that include breath-holding spells, benign paroxysmal vertigo, hyperventilation syndromes, narcolepsy-cataplexy, night terrors, and syncopal events. We present the clinical features of 15 children referred for evaluation of witnessed convulsions at home with similar histories of seizures precipitated by hair grooming and accompanied by presyncopal symptoms. METHODS The records of children referred to our neurology clinics from 1982 to 1992 for evaluation of seizures in temporal relationship to hair grooming were retrospectively reviewed.

scholarly journals Anomalous Origin of the Vertebral Artery

2018 ◽  
Vol 35 (04) ◽  
pp. 216-217
Author(s):  
André Shinohara ◽  
Beatriz Sangalette ◽  
Mateus Silva ◽  
Laís Rinaldi ◽  
Juliane Souza ◽  
...  
Keyword(s):  
Vertebral Artery ◽  
Aortic Arch ◽  
Subclavian Artery ◽  
Surgical Procedures ◽  
Foramen Magnum ◽  
Left Vertebral Artery ◽  
Clear Understanding ◽  
Case Presentation ◽  
Human Specimen ◽  
The Common

Introduction The present article presents a rare case of variation of the left vertebral artery, which originated from the aortic arch, between the common carotid artery and the subclavian artery, although classic descriptions of the vertebral artery indicate its origin at the subclavian artery, where it penetrates the foramen transverse and ascends cervically to the foramen magnum. Case presentation The anatomical peculiarity of the vertebral artery is evidenced. The origin of the vertebral artery was identified directly from the aortic arch in a dissected human specimen. Conclusion In view of the numerous surgical procedures performed in this area, the clear understanding of its topographic layout is indispensable, and might change surgical procedures performed in the region.

scholarly journals Subacute Thyroiditis from COVID-19 Infection: A Case Report and Review of Literature

2020 ◽  
pp. 1-5
Author(s):  
Akshay Khatri ◽  
Esti Charlap ◽  
Angela Kim
Keyword(s):  
Clinical Features ◽  
Clinical Laboratory ◽  
Early Recognition ◽  
Subacute Thyroiditis ◽  
The Novel ◽  
Review Of Literature ◽  
Successful Management ◽  
Case Presentation ◽  
Radiologic Findings ◽  
History Of

<b><i>Introduction:</i></b> The novel severe-acute-respiratory-syndrome-coronavirus-2 (SARS-CoV-2) virus has led to the ongoing Coronavirus disease 2019 (COVID-19) disease pandemic. There are increasing reports of extrapulmonary clinical features of COVID-19, either as initial presentations or sequelae of disease. We report a patient diagnosed with subacute thyroiditis precipitated by COVID-19 infection, as well as review the literature of similar cases. <b><i>Case Presentation:</i></b> A 41-year-old female with no significant personal or family history of endocrinologic disorders presented with clinical features of thyroiditis that began after COVID-19 infection. Clinical, laboratory, and radiologic findings were indicative of subacute thyroiditis. Workup for potential triggers other than SARS-CoV-2 was negative. <b><i>Discussion/Conclusion:</i></b> We compared the clinical and diagnostic findings of our patient with other well-documented cases of subacute thyroiditis presumed to be triggered by SARS-CoV-2 viral infection. We also reviewed the literature related to the potential mechanisms leading to thyroiditis. Clinicians must be aware of the possibility of thyroid dysfunction after COVID-19 infection. Early recognition and timely anti-inflammatory therapy help in successful management.

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