Odontomicronychial ectodermal dysplasia.

J Med Genet

Department of Genetics, Federal University of Paraná, Curitiba, Brazil.

Published: March 1996

This paper describes odontomicronychial dysplasia, a pure ectodermal dysplasia of the 2-3 subgroup of group A. It is characterised by precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. This condition probably results from an autosomal recessive gene.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051874PMC
http://dx.doi.org/10.1136/jmg.33.3.230DOI Listing

Publication Analysis

Top Keywords

ectodermal dysplasia
8
precocious eruption
8
odontomicronychial ectodermal
4
dysplasia paper
4
paper describes
4
describes odontomicronychial
4
odontomicronychial dysplasia
4
dysplasia pure
4
pure ectodermal
4
dysplasia 2-3
4

Similar Publications

: The nuclear factor (NF)-kB essential modulator (NEMO) has a crucial role in the NFκB pathway. Hypomorphic pathogenic variants cause ectodermal dysplasia with immunodeficiency (EDA-ID) in affected males. However, heterozygous amorphic variants could be responsible for Incontinentia Pigmenti (IP) in female carriers.

View Article and Find Full Text PDF

Mutations Causing X-Linked Recessive Oligodontia with Variable Expression.

Genes (Basel)

December 2024

Department of Pediatric Dentistry & DRI, School of Dentistry, Seoul National University, Seoul 03080, Republic of Korea.

Background/objectives: The ectodysplasin A () gene, a member of the tumor necrosis factor ligand superfamily, is involved in the early epithelial-mesenchymal interaction that regulates ectoderm-derived appendage formation. Numerous studies have shown that mutations in the gene can cause X-linked ectodermal dysplasia (ED) and non-syndromic oligodontia (NSO). Accordingly, this study aimed to identify the causative genetic mutations of the gene.

View Article and Find Full Text PDF

'PHACE' on the 'face'.

BMJ Case Rep

January 2025

Paediatric Department, SJOG Midland Public Hospital, Midland, Western Australia, Australia.

Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma.

View Article and Find Full Text PDF

Introduction: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder characterized by growth retardation, dysplastic nails, cardiac defects, dental abnormalities, and polydactyly. Early diagnosis and multidisciplinary management are essential for improving patient outcomes.

Case Report: We present a case of a 12-year-old male with EVC, born to consanguineous parents, who presented with bilateral bowing of the legs and difficulty walking.

View Article and Find Full Text PDF

Orthodontic Management in Pediatric Patients with Rare Diseases: Case Reports.

J Clin Med

December 2024

Department of Oral and Maxillo-Facial Sciences, Sapienza University of Rome, U.O.C. Pediatric Dentistry Unit, 00161 Rome, Italy.

: The orthodontic management of pediatric patients with rare diseases, such as Ectodermal Dysplasia (ED) and Osteogenesis Imperfecta (OI), requires complex protocols due to dental anomalies in both the number and structure of teeth. These conditions necessitate a departure from traditional orthodontic approaches, as skeletal anchoring is often required because of these anomalies. A patient with ED, characterized by hypodontia and malformed teeth, presented with insufficient natural teeth for anchorage.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!