scholarly journals Autosomal Dominant Postaxial Polydactyly, Nail Dystrophy, and Dental Abnormalities Map to Chromosome 4p16, in the Region Containing the Ellis–van Creveld Syndrome Locus

1997 ◽  
Vol 61 (6) ◽  
pp. 1405-1412 ◽  
Author(s):  
Timothy D. Howard ◽  
Alan E. Guttmacher ◽  
Wendy McKinnon ◽  
Mridula Sharma ◽  
Victor A. McKusick ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Nail Dystrophy ◽  
Postaxial Polydactyly ◽  
Dental Abnormalities ◽  
Chromosome 4P16 ◽  
Ellis Van Creveld Syndrome

scholarly journals Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis

2012 ◽  
Vol 2 ◽  
pp. 18 ◽  
Author(s):  
Devi C. Shetty ◽  
Harkanwal P. Singh ◽  
Prince Kumar ◽  
Chanchal Verma
Keyword(s):  
Genetic Analysis ◽  
Skeletal Dysplasias ◽  
Postaxial Polydactyly ◽  
Heterogenous Group ◽  
Chromosome 4P16 ◽  
Ellis Van Creveld Syndrome ◽  
Mode Of Inheritance

Skeletal dysplasias are a heterogenous group of disorders combining abnormalities in the skull and other skeletal bones. Weyers acrofacial dysostosis also known as Weyers acrodental dysostosis was first described in 1952, by Weyers, as a postaxial polydactyly, which had features distinct from, yet some in common with the Ellis-van Creveld Syndrome (EvC). Both the syndromes have been mapped to the same chromosome, 4p16. The cases reported here highlight the overlapping features of both syndromes, which are dissimilar in mode of inheritance and phenotypic severity, emphasizing the need for genetic analysis, to categorize these conditions.

Axenfeld-Rieger Syndrome: Report on dental and craniofacial findings

2006 ◽  
Vol 30 (1) ◽  
pp. 83-88 ◽  
Author(s):  
Dr. Ashok Kumar Jena ◽  
Dr.Om Kharbanda
Keyword(s):  
Anterior Chamber ◽  
Autosomal Dominant ◽  
Craniofacial Anomalies ◽  
Autosomal Dominant Disorder ◽  
Anterior Crowding ◽  
Rieger Syndrome ◽  
Dental Abnormalities ◽  
Syndrome Report

Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyperplastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior openbite and moderate to severe anterior crowding.

scholarly journals Inherited Epidermolysis Bullosa – A Case Report of Several Family Members in Three Generations

2018 ◽  
Vol 10 (1) ◽  
pp. 12-17
Author(s):  
Ljuba Vujanović ◽  
Marina Jovanović ◽  
Zoran Golušin ◽  
Svetlana Kovačić Dukić ◽  
Sanja Jakovljević ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Epidermolysis Bullosa ◽  
Autosomal Dominant ◽  
Dorsal Plate ◽  
Nail Dystrophy ◽  
Three Generations ◽  
The Family ◽  
Inherited Epidermolysis Bullosa ◽  
Atrophic Scars

Abstract Inherited epidermolysis bullosa (IEB) is a genodermatosis transmitted in either autosomal dominant or autosomal recessive manner. The disease is characterized by the development of blisters, erosions, scars, nail dystrophy and scalp abnormalities. Our case report has included four members of one family in three generations with manifested disease. Our 25-year-old female patient presented with a few eroded, crusted, nummular lesions localized on the dorsal plate of interphalangeal joints of fingers, elbow and knee skin, while anonychia was found on her digits. Our youngest patient (her 3.5-year-old son) presented with the lesions in the form of blisters filled with serous fluid, erosions, recent scars and atrophy. Some atrophic scars on the elbow and knee skin were found in our patient′s younger brother, aged 16. The 46-year-old mother of our female patient had nail dystrophy on her hands accompanied by the toenails absence. Pediatric geneticist created the pedigree chart which showed autosomal dominant inheritance pattern with complete expressivity and penetrance. Further diagnostics was not done because the family was not interested.

scholarly journals Cleidocranial dysplasia. A molecular and clinical review.

2018 ◽  
Vol 8 (1) ◽  
pp. 35-38
Author(s):  
Andrea Avendaño ◽  
Francisco Cammarata-Scalisi ◽  
Mochamad Fahlevi Rizal ◽  
Sarworini Bagio Budiardjo ◽  
Margaretha Suharsini ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Molecular Mechanisms ◽  
Target Genes ◽  
Autosomal Dominant ◽  
Cleidocranial Dysplasia ◽  
Supernumerary Teeth ◽  
Phenotypic Characteristics ◽  
Autosomal Dominant Disorder ◽  
Dental Abnormalities ◽  
Related Transcription Factor

Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder characterized by skeletal and dental abnormalities primarily, short stature, aplasia or hypoplasia of clavicles, open fontanelles and supernumerary teeth. Heterozygous mutations of the runt related transcription factor 2 (RUNX2) gene have been found in approximately 60-70% of cases leaving a large number of cases with no defined genetic cause which led us to delve into molecular mechanisms underlying CCD and thus to detect potential target genes to be explored in these patients. In this review we also highlight very broadly the phenotypic characteristics of previously reported patients with CCD.

NATAL AND NEONATAL TEETH

PEDIATRICS ◽  
1963 ◽  
Vol 32 (6) ◽  
pp. 1087-1093
Author(s):  
Jessie Bodenhoff ◽  
Robert J. Gorlin
Keyword(s):  
Cleft Lip ◽  
Root Formation ◽  
Autosomal Dominant ◽  
Deciduous Teeth ◽  
Autosomal Dominant Trait ◽  
Natal Teeth ◽  
History Of ◽  
Ellis Van Creveld Syndrome ◽  
Pachyonychia Congenita ◽  
Mandibular Incisors

The occurrence of natal and/or neonatal teeth is a rare anomaly, which for centuries has been associated with diverse superstitions among many different ethnic groups. The incidence of natal and/or neonatal teeth is far more frequent than previously supposed. Review of 359 recorded cases suggests an incidence of at least 1 in 3,000 births. Natal teeth are more frequent than neonatal teeth, the ratio being approximately 3 to 1. Rarely, a child will exhibit both natal and neonatal teeth. There appears to be no sex preference. Most frequently (ca. 85% of the cases), the natal or neonatal teeth are the deciduous mandibular incisors. In almost 90% of the cases, the teeth are of the normal deciduous complement. The rest are supernumerary. In about 60% of the cases, both of the natal and/or neonatal mandibular incisors erupt prematurely. Occasionally, a child may be born with a considerable number of his deciduous teeth erupted. Several such cases have been cited. About 70% of the natal and/or neonatal teeth are firmly fixed but a small number subsequently become loose. Similarly, a small fraction of those initially loose become fixed. Though the etiology is not known, approximately 15% had parents, siblings, or other near relatives with a history of natal and/or neonatal teeth. In several well-documented cases, the inheritance pattern has been that of an autosomal dominant trait. Three syndromes have been associated with natal teeth: (a) chondroectodermal dysplasia or Ellis-van Creveld syndrome, (b) oculo-mandibulo-dyscephaly with hypotrichosis or Hallermann-Streiff syndrome, and (c) pachyonychia congenita or Jadassohn-Lewandowski syndrome. Natal teeth may also be associated with cleft lip, cleft palate and cyclopia. Histologic investigation has revealed a failure of root formation despite eruption, a large vascular pulp, irregular genesis of dentin and a failure of cementum formation.

scholarly journals Keratitis, Ichthyosis and Deafness (KID) Syndrome – a Case Report

2013 ◽  
Vol 5 (1) ◽  
pp. 22-30
Author(s):  
Milica Stepanović ◽  
Mirjana Paravina ◽  
Goran Janković ◽  
Danica Janjić Spasić
Keyword(s):  
Growth And Development ◽  
Autosomal Dominant ◽  
Ectodermal Dysplasia ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Nail Dystrophy ◽  
Cutaneous Manifestations ◽  
Connexin Gene ◽  
History Of ◽  
Palmoplantar Keratosis

Abstract Keratitis, ichthyosis and deafness (KID) syndrome is a rare congenital ectodermal dysplasia characterized by ichthyosiform hyperkeratosis of the skin, neurosensory hearing loss and vascularizing keratitis. It is inherited as an autosomal dominant trait, now known to be due to mutations in the connexin gene. This paper presents a case of a 20-year-old male patient with erythrokeratodermia and mild scaling since birth. He presented mild hearing impairment at the age of two and often suffered from eye inflammations. On admission, his clinical picture was typical of KID syndrome with erythrokeratodermia, neurosensory deafness, vascularizing keratitis, alopecia, palmoplantar keratosis, and nail dystrophy. The patient also had a history of recurrent infections, especially bacterial and candidal infections of the skin, auditory canals and eyes. Despite extensive skin, ocular, ear and hair manifestations, his physical and psychomotor growth and development were normal. Adjuvant balneotherapy in Prolom Spa, along with emollient creams, significantly reduced cutaneous manifestations in our patient.

scholarly journals Chondroectodermal dysplasia (Ellis-van Creveld syndrome)

2021 ◽  
Vol 8 (9) ◽  
pp. 1599
Author(s):  
Om Prakash Singh ◽  
Vikas Kumar ◽  
Rahul Kumar
Keyword(s):  
Autosomal Recessive ◽  
Endochondral Ossification ◽  
Heart Defects ◽  
Rare Condition ◽  
Causative Factor ◽  
Recessive Trait ◽  
Variable Expression ◽  
Sporadic Cases ◽  
Chromosome 4P16 ◽  
Ellis Van Creveld Syndrome

Ellis-van Creveld syndrome (EVC) is a very rare mesenchymal- ectodermal dysplasia. This was first described in 1940 by Richard W. B. Ellis and Simon van Creveld.This rare condition is inherited as an autosomal recessive trait with variable expression. It is also known as mesoectodermal dysplasia or chondroectodermal dysplasia. The main features of this syndrome are short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. It was found to be more common among the Amish. But sporadic cases have been reported from all over the world including India. The generalized dysplasia of endochondral ossification is because of   in a novel gene on chromosome 4p16. Mutations of the EVC1 and EVC2 genes, located in head to head configuration on chromosome 4p16 have been identified as a causative factor

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