Ellis-van Creveld Syndrome

Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, is a complex genetic disorder caused by the mutation of particular genes, characterized by dwarfism, polydactyly, abnormal nail structure, and dental malformations. Dental manifestations include enamel hypoplasia and hypodontia. Patients with Ellis-van Creveld syndrome may also have heart defects that would require specific diagnostic tools. The exact prevalence of this disorder remains poorly investigated because most risk groups are the Amish population, who refuse to share personal information voluntarily. We hereby present a case report of an eighteen-year-old young woman who presented with the chief complaint of poor appearance of teeth. The medical history includes ventricular hypertrophy and epilepsy. The patient had mandibular natal teeth that were removed. The first line of treatment was offered when the girl was seven, and standard check-ups and orthodontic manipulations were made within the last ten years. Overall, this case proves the importance of radiographic and physical examination, along with the multidisciplinary cooperation of dentists, surgeons, orthodontists, anesthetists, and cardiologists. Keywords: Dental enamel hypoplasia; Dwarfism; Ellis-van Creveld syndrome; Epilepsy; Malformed nails; Natal teeth

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Ellis-van Creveld syndrome affecting siblings: A case report and review

CODS Journal of Dentistry ◽

10.5005/cods-6-1-40 ◽

2014 ◽

Vol 6 (1) ◽

pp. 40-44

Author(s):

Rajeshwari G. Annigeri ◽

V.V. Subba Reddy ◽

G.P. Mamatha ◽

Manisha Jadhav ◽

P. Poornima

Keyword(s):

Case Report ◽

Heart Defects ◽

Genetic Disorder ◽

Genetic Defect ◽

Principal Characteristics ◽

Jeune Syndrome ◽

Asphyxiating Thoracic Dysplasia ◽

Chromosome 4P16 ◽

Ellis Van Creveld Syndrome ◽

Sparse Hair

Abstract Ellis-van Creveld syndrome (EVC) is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. EVC is a rare autosomal recessive disease resulting from a genetic defect located in chromosome 4p16. The name chondroectodermal is used as it affects both the skeleton (chondro) and the skin (ectoderm). The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The patients have small stature, short limbs, fine sparse hair and hypoplastic nails. The orofacial manifestations include multiple gingivolabial musculofibrous frenule, dental anomalies like hypodontia associated with malocclusion. This entity can be diagnosed at any age, even during pregnancy. The differentiation should be made between Asphyxiating Thoracic Dysplasia (Jeune syndrome) and other orofaciodigital syndromes. A multidisciplinary approach is required to manage this condition. We are reporting a rare clinical entity of chondroectodermal dysplasia with classical signs affecting siblings who reported to the Department of Oral Medicine and Radiology with review of its literature. How to cite this article Mamatha GP, Manisha J, Rajeshwari GA, Poornima P, Subba Reddy VV. Ellis-van Creveld syndrome affecting siblings – A case report and review. CODS J Dent 2014;6;40-44

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IMPLICAÇÕES ODONTOLÓGICAS DO ACOMETIMENTO PELA DOENÇA CELÍACA

International Journal of Science Dentistry ◽

10.22409/ijosd.v0i54.40304 ◽

2020 ◽

Author(s):

Sérgio Spezzia

Keyword(s):

Celiac Disease ◽

Early Diagnosis ◽

Dental Enamel ◽

Enamel Hypoplasia ◽

Dental Enamel Hypoplasia ◽

Keywords Celiac Disease ◽

Intestino Delgado

Resumo Doença celíaca (DC) consta de desordem inflamatória crônica autoimune, que desencadeia reação autoimune na região do intestino delgado. As modificações ocasionadas pela DC na mucosa do intestino delgado possuem reversibilidade, ao passo que orienta-se os pacientes a não ingerir mais alimentação que contenha o glúten. Deve ser adotada também como medida a averiguação das bulas dos remédios, no intuito de verificar se os mesmos contém traços de glúten em sua fórmula. Existem inúmeros pacientes assintomáticos, o que dificulta a determinação diagnóstica e sabe-se que caso não se proceda ao diagnóstico e ao tratamento da DC em tempo hábil pode haver complicações indesejáveis. O objetivo do presente artigo foi averiguar acerca das manifestações bucais ocorridas em pacientes doentes em decorrência da presença da DC. As principais manifestações orais da DC que podem ocorrer envolvem hipossalivação; glossites; defeitos de esmalte; úlceras aftosas recorrentes; estomatites; aftas; manchas por insuficiência ou por excesso de cálcio, dentre outras. O conhecimento e a conscientização prévia pelos cirurgiões dentistas acerca das repercussões bucais acarretadas pela possível presença da DC em seus pacientes é de fundamental importância para o aprimoramento diagnóstico e para a adoção de condutas odontológicas apropriadas. Palavras-chave: Doença Celíaca. Dieta. Diagnóstico Precoce. Hipoplasia do Esmalte Dentário. Keywords: Celiac Disease. Diet. Early Diagnosis. Dental Enamel Hypoplasia.

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Loss of FancC Function Results in Decreased Hematopoietic Stem Cell Repopulating Ability

Blood ◽

10.1182/blood.v94.1.1.413k03_1_8 ◽

1999 ◽

Vol 94 (1) ◽

pp. 1-8 ◽

Cited By ~ 114

Author(s):

Laura S. Haneline ◽

Troy A. Gobbett ◽

Rema Ramani ◽

Madeleine Carreau ◽

Manuel Buchwald ◽

...

Keyword(s):

Stem Cell ◽

Hematopoietic Stem Cell ◽

Cell Function ◽

Genetic Disorder ◽

Test Cell ◽

Hematopoietic Stem ◽

Murine Homologue ◽

Complex Genetic Disorder

Fanconi anemia (FA) is a complex genetic disorder characterized by progressive bone marrow (BM) aplasia, chromosomal instability, and acquisition of malignancies, particularly myeloid leukemia. We used a murine model containing a disruption of the murine homologue ofFANCC (FancC) to evaluate short- and long-term multilineage repopulating ability of FancC −/− cells in vivo. Competitive repopulation assays were conducted where “test”FancC −/− or FancC +/+ BM cells (expressing CD45.2) were cotransplanted with congenic competitor cells (expressing CD45.1) into irradiated mice. In two independent experiments, we determined that FancC −/− BM cells have a profound decrease in short-term, as well as long-term, multilineage repopulating ability. To determine quantitatively the relative production of progeny cells by each test cell population, we calculated test cell contribution to chimerism as compared with 1 × 105 competitor cells. We determined that FancC −/− cells have a 7-fold to 12-fold decrease in repopulating ability compared with FancC +/+cells. These data indicate that loss of FancC function results in reduced in vivo repopulating ability of pluripotential hematopoietic stem cells, which may play a role in the development of the BM failure in FA patients. This model system provides a powerful tool for evaluation of experimental therapeutics on hematopoietic stem cell function.

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Cystic Fibrosis in two Ghanaian Children

10.25259/jpats_10_2021 ◽

2021 ◽

Vol 2 ◽

pp. 167-170 ◽

Cited By ~ 1

Author(s):

Sandra Kwarteng Owusu ◽

Gabrielle Obeng-Koranteng ◽

Sandra Laryea Odai ◽

Marie Charlyne Fatima Kilba ◽

Parbie Abbeyquaye ◽

...

Keyword(s):

Cystic Fibrosis ◽

Genetic Testing ◽

Severe Acute Malnutrition ◽

Case Reports ◽

African Descent ◽

Genetic Disorder ◽

Pancreatic Insufficiency ◽

Acute Malnutrition ◽

Diagnostic Tools ◽

Sweat Testing

Cystic fibrosis (CF) is a severe life-limiting genetic disorder resulting from mutations in the cystic fibrosis transmembrane regulator gene and is reported to be more prevalent among Caucasians than people of African descent. The past three decades have seen a gradual increase in the reporting of CF in non-European populations with CF in all regions including Africa. We report on the first two known Ghanaian children diagnosed with CF presenting early in infancy. The first patient presented with severe acute malnutrition and persistent diarrhea resulting from severe exocrine pancreatic insufficiency. In the second patient, there were recurrent wheeze and recurrent pneumonia, severe dehydration with metabolic alkalosis. Diagnosis of CF in Ghana is challenging due to the absence of diagnostic tools such as sweat testing equipment. In the first patient, sweat testing and genetic testing were done in South Africa. In the second patient, sweat testing was not done but diagnosis was confirmed by genetic testing. Both patients presented with classical CF symptoms including Pseudomonas aeruginosa airway infection before age 6 months. Both children are currently alive and healthy on appropriate treatment. These case reports highlight the growing evidence of CF occurring in people of African descent and the diagnostic challenges faced in Africa.

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A novel approach: combining dental enamel hypoplasia and paleoparasitological analysis in medieval Islamic individuals buried in Santarém (Portugal)

Antropologia Portuguesa ◽

10.14195/2182-7982_34_6 ◽

2017 ◽

pp. 111-133 ◽

Cited By ~ 2

Author(s):

Daniela Cunha ◽

Ana Luísa Santos ◽

António Matias ◽

Luciana Sianto

Keyword(s):

Physiological Stress ◽

Intestinal Parasites ◽

Dental Enamel ◽

Optical Microscope ◽

Enamel Hypoplasia ◽

Exact Test ◽

Helminth Infections ◽

Novel Approach ◽

Linear Enamel Hypoplasia ◽

Long Term Impact

Paleopathological and paleoparasitological studies seek evidences to understand health and disease in past populations. These two approaches are often used independently despite the obvious importance of its complementary. This paper aims to explore the possible relation between a common indicator of childhood stress and infection by intestinal parasites. Thirty adult individuals from the Islamic necropolis of Santarém (9th-12th cent. AD) were macroscopically examined for linear enamel hypoplasia. Sediment from the pelvis and skull of each skeleton were observed under the optical microscope in search of helminth eggs. Hypoplasic defects were identified in 46.67% of the individuals, mostly on canines and incisors. Eggs from Ascaris lumbricoides and Trichuris trichiura were identified respectively in 4 and 2 individuals. The Fisher’s exact test was performed to analyze whether the individuals with evidences of stress in early childhood were more prone to helminth infections or death at younger ages. Although these variables were shown to be independent, this exploratory study highlights the contribution of combining paleopathological and paleoparasitological methods to address the long-term impact of the physiological stress exposure in early life on the immune system. Furthermore, variety of factors that could have influenced these results are discussed and interpreted in a biocultural perspective.

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Ghrelin-Reactive Autoantibodies are elevated in Children with Prader-Willi Syndrome

10.1101/093930 ◽

2016 ◽

Author(s):

Gabrielle Crisp ◽

Ohn Nyunt ◽

Lisa Chopin ◽

Inge Seim ◽

Mark Harris ◽

...

Keyword(s):

Pediatric Population ◽

Genetic Disorder ◽

Peptide Hormone ◽

Prader Willi Syndrome ◽

Acylated Ghrelin ◽

Carrier Proteins ◽

Unacylated Ghrelin ◽

Complex Genetic Disorder ◽

Growth Abnormalities ◽

Insatiable Appetite

AbstractPrader-Willi Syndrome (PWS) is a complex genetic disorder characterized by developmental and growth abnormalities, insatiable appetite, and excessive eating (hyperphagia). The underlying cause of hyperphagia in PWS is currently unknown, however, elevated levels of the peptide hormone ghrelin is believed to contribute. Recently, ghrelin-reactive autoantibodies (isotype IgG) were identified in non-genetic obesity. These autoantibodies act as ghrelin carrier proteins and potentiate its orexigenic effects. Here, we describe the identification of ghrelin-reactive autoantibodies in a cohort of 16 children with PWS. In comparison to unaffected siblings, autoantibody levels are significantly increased in PWS children. We further show that autoantibody levels are unaffected by food intake, unlike plasma ghrelin which declines postprandially in both groups. Critically, we also demonstrate that the autoantibodies bind the major circulating ghrelin isoforms, unacylated ghrelin, which does not stimulate appetite, and the orexigen acylated ghrelin. In excess, unacylated ghrelin may compete with acylated ghrelin for autoantibody binding. Taken together, this is the first report on ghrelin-reactive antibodies in a pediatric population, and the first to demonstrate that the antibodies do not discriminate between orexigenic and non-orexigenic ghrelin isoforms. Our work suggests that ghrelin autoantibodies can be targeted using non-orexigenic forms of ghrelin, thereby providing a novel therapeutic target for PWS and for obesity in general.

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Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary Immunodeficiencies Associated With Disturbed PI3K Signaling

Frontiers in Pediatrics ◽

10.3389/fped.2021.688022 ◽

2021 ◽

Vol 9 ◽

Author(s):

Nidia Moreno-Corona ◽

Loïc Chentout ◽

Lucie Poggi ◽

Romane Thouenon ◽

Cecile Masson ◽

...

Keyword(s):

Viral Infections ◽

Genetic Disorder ◽

Pi3 Kinase ◽

Pi3k Signaling ◽

Gene Encoding ◽

Regulatory Subunits ◽

Neurodevelopmental Delay ◽

Exon 11 ◽

Complex Genetic Disorder ◽

Splice Product

Activated PI3-kinase-δ syndrome 2 (APDS2) is caused by autosomal dominant mutations in the PIK3R1 gene encoding the p85α, p55α, and p50α regulatory subunits. Most diagnosed APDS2 patients carry mutations affecting either the splice donor or splice acceptor sites of exon 11 of the PIK3R1 gene responsible for an alternative splice product and a shortened protein. The clinical presentation of APDS2 patients is highly variable, ranging from mild to profound combined immunodeficiency features as massive lymphoproliferation, increased susceptibility to bacterial and viral infections, bronchiectasis, autoimmune manifestations, and occurrence of cancer. Non-immunological features such as growth retardation and neurodevelopmental delay have been reported for APDS2 patients. Here, we describe a patient suffering from an APDS2 associated with a Smith–Magenis syndrome (SMS), a complex genetic disorder affecting, among others, neurological manifestations and review the literature describing neurodevelopmental impacts in APDS2 and other PIDs/monogenetic disorders associated with dysregulated PI3K signaling.

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Affective functioning and social cognition in Noonan syndrome

Psychological Medicine ◽

10.1017/s0033291711001115 ◽

2011 ◽

Vol 42 (2) ◽

pp. 419-426 ◽

Cited By ~ 18

Author(s):

E. Wingbermühle ◽

J. I. M. Egger ◽

W. M. A. Verhoeven ◽

I. van der Burgt ◽

R. P. C. Kessels

Keyword(s):

Social Cognition ◽

Emotion Recognition ◽

Noonan Syndrome ◽

Heart Defects ◽

Genetic Disorder ◽

Recognition Task ◽

Well Being ◽

Facial Emotion Recognition ◽

Facial Emotion ◽

Clinical Group

BackgroundNoonan syndrome (NS) is a common genetic disorder, characterized by short stature, facial dysmorphia, congenital heart defects and a mildly lowered IQ. Impairments in psychosocial functioning have often been suggested, without, however, systematic investigation in a clinical group. In this study, different aspects of affective processing, social cognition and behaviour, in addition to personal well-being, were assessed in a large group of patients with NS.MethodForty adult patients with NS were compared with 40 healthy controls, matched with respect to age, sex, intelligence and education level. Facial emotion recognition was measured with the Emotion Recognition Task (ERT), alexithymia with both the 20-item Toronto Alexithymia Scale (TAS-20) and the Bermond–Vorst Alexithymia Questionnaire (BVAQ), and mentalizing with the Theory of Mind (ToM) test. The Symptom Checklist-90 Revised (SCL-90-R) and the Scale for Interpersonal Behaviour (SIB) were used to record aspects of psychological well-being and social interaction.ResultsPatients showed higher levels of cognitive alexithymia than controls. They also experienced more social distress, but the frequency of engaging in social situations did not differ. Facial emotion recognition was only slightly impaired.ConclusionsHigher levels of alexithymia and social discomfort are part of the behavioural phenotype of NS. However, patients with NS have relatively intact perception of emotions in others and unimpaired mentalizing. These results provide insight into the underlying mechanisms of social daily life functioning in this patient group.

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Clinical Profile of Polycystic Ovarian Syndrome Patients In Tertiary Care Hospital

VIMS Health Science Journal ◽

10.46858/vimshsj.8303 ◽

2021 ◽

Vol 8 (3) ◽

pp. 99-103

Author(s):

Dr. Urmila Gavali ◽

Dr. Mayuri Pawar ◽

Dr. Gautam Aher ◽

Dr. Suhas Shinde

Keyword(s):

Polycystic Ovarian Syndrome ◽

Genetic Disorder ◽

Tertiary Care ◽

Care Hospital ◽

Tertiary Care Centre ◽

Cross Sectional ◽

Clinical Presentations ◽

Complex Genetic Disorder ◽

Uncertain Etiology ◽

Ovarian Syndrome

ABSTRACT: Background: Polycystic ovarian syndrome (PCOS)is common gynecological endocrinopathy characterized by chronic anovulation and hyperandrogenism affecting 5-10% of women worldwide. It is a heterogenous, multifactorial, complex genetic disorder with uncertain etiology and is one of the most common treatable cause of infertility. AIM: To study the various clinical presentations in polycystic ovarian syndrome. MATERIALS AND METHODS: Present study is cross sectional observational study carried out in tertiary care centre. This study was performed in the Out Patient Department of Obstetrics and Gynecology. RESULTS: The mean age of 41 patients in the study was 23.6 years. Most common presenting symptom in patients is menstrual irregularities (89%) followed by infertility and hirsutism. USG (abdo+pelvis) showing polycystic ovarian syndrome ovaries. Around 39% patients with PCOS developed insulin resistance. KEYWORDS: - Amenorrhea, Infertility, Oligomenorrhea, Polycystic Ovarian Syndrome.

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