Five mandibular incisors: an autosomal recessive trait?

Br Dent J

Department of Oral Diagnostic Sciences, Lebanese University School of Dentistry, Beirut, Lebanon.

Published: September 2004

A fifth mandibular incisor is a eumorphic supernumerary tooth and has rarely been described in the medical literature. We report here a large Lebanese consanguineous family where four individuals displayed five incisors in the anterior mandible. Such familial observation has not been previously described. The possibility of an autosomal recessive inheritance for this nonsyndromic trait is discussed.

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.bdj.4811648DOI Listing

Publication Analysis

Top Keywords

autosomal recessive
8
mandibular incisors
4
incisors autosomal
4
recessive trait?
4
trait? mandibular
4
mandibular incisor
4
incisor eumorphic
4
eumorphic supernumerary
4
supernumerary tooth
4
tooth rarely
4

Similar Publications

The Diagnosis and Therapy of Osteoporosis in Gaucher Disease.

Calcif Tissue Int

January 2025

Fondazione FIRMO Onlus, Italian Foundation for the Research On Bone Diseases, Florence, Italy.

Gaucher disease is a rare lysosomal storage disorder characterized by the accumulation of glucocerebroside lipids within multiple organs due to a deficiency of the lysosomal enzyme (acid β-glucosidase). It is an inherited autosomal recessive disease. The onset of symptoms can vary depending on disease type and severity, with milder forms presenting in adulthood.

View Article and Find Full Text PDF

Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD).

View Article and Find Full Text PDF

Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.

Protein Sci

February 2025

Protein Biochemistry and Molecular Modeling Group, OGVFB, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

Oculocutaneous albinism is an autosomal recessive inherited disorder associated with mutations in the TYR gene. A single missense change in the tyrosinase (Tyr) could result in partial or complete loss of catalytic activity. The effect of two genetic mutations in the same Tyr as the molecule is less studied.

View Article and Find Full Text PDF

Primary Hypertrophic Osteoarthropathy (PHOAR1) is characterized by autosomal recessive loss of function variants in 15-hydroxyprostaglandin dehydrogenase (HPGD) leading to digital clubbing, periostosis, pachydermia, and severe hyperhidrosis. HPGD catalyzes the first step of prostaglandin E2 (PGE2) degradation. Selective COX-2 inhibitors have proved beneficial in adults, though it is unknown if early initiation of COX-2 inhibitors can alter the natural history of PHOAR1.

View Article and Find Full Text PDF

Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. Early diagnosis of GSD IV is challenging due to non-specific symptoms, such as liver and spleen enlargement, which can overlap with other hematologic and hepatobiliary disorders.

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!