Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case

Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.

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A rare case report of progressive symmetric erythrokeratoderma in five generations of an Indian family

International Journal of Research in Dermatology ◽

10.18203/issn.2455-4529.intjresdermatol20183174 ◽

2018 ◽

Vol 4 (3) ◽

pp. 444

Author(s):

Anil Kumar Gupta ◽

Kanishk Utkarsh Kaushik ◽

Sushantika . ◽

Shivangi Sachan

Keyword(s):

Case Report ◽

Broad Spectrum ◽

Rare Case ◽

Autosomal Dominant ◽

Autosomal Dominant Inheritance ◽

Dominant Inheritance ◽

Indian Family ◽

Rare Case Report ◽

Successive Generations ◽

Rare Group

<p>Erythrokeratoderma is a rare group of disorders of autosomal dominant inheritance characterised by localised erythema and hyperkeratosis. Within a broad spectrum of phenotypes atleast two are delineated: a) Erythrokeratoderma variabilis and b) Progressive symmetric erythrokeratoderma. Here we are reporting a case of progressive symmetric erythrokeratoderma in an Indian family where five successive generations were involved.</p>

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Congenital Lower Lip Pits (Van der Woude Syndrome): Report of a Case

The Journal of Contemporary Dental Practice ◽

10.5005/jcdp-7-1-134 ◽

2006 ◽

Vol 7 (1) ◽

pp. 134-140 ◽

Cited By ~ 3

Author(s):

Zuhal Kirzioğlu ◽

Münciye Semra Özay Ertürk

Keyword(s):

Cleft Lip ◽

Autosomal Dominant ◽

Cleft Lip And Palate ◽

Dental Treatment ◽

Surgical Removal ◽

Supernumerary Tooth ◽

Autosomal Dominant Disorder ◽

Van Der Woude Syndrome ◽

Lower Lip ◽

Syndrome Report

Abstract Van der Woude syndrome (VWS) is a rare autosomal dominant disorder that is characterized by a cleft lip and palate with congenital lip pits. This is a report of a case of VWS with sinuses in the lower lip, a cleft in the upper lip, and a supernumerary tooth in the maxilla. The main characteristics of this disorder are discussed. Dental treatment of the patient was performed, but the surgical removal of the sinus was rejected by the parents. This case report brings this condition to the attention of dentists and surgeons and emphasizes lip pits may not always be identical in appearance. Citation Kirzioğlu Z, Ertürk MSÖ. Congenital Lower Lip Pits (Van der Woude Syndrome): Report of a Case. J Contemp Dent Pract 2006 February;(7)1:134-140.

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Recurrent meningitis in a case of congenital anterior sacral meningocele and agenesis of sacral and coccygeal vertebrae

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x1995000500016 ◽

1995 ◽

Vol 53 (4) ◽

pp. 799-801 ◽

Cited By ~ 5

Author(s):

Carolina A. R. Funayama ◽

Marlene de F. Turcato ◽

Renato Moura-Ribeiro ◽

Gutemberg M. Rocha ◽

João M. Pina Neto ◽

...

Keyword(s):

Environmental Factors ◽

Rare Case ◽

Autosomal Dominant ◽

Chromic Acid ◽

Autosomal Dominant Inheritance ◽

Dominant Inheritance ◽

Recurrent Meningitis ◽

Anterior Sacral Meningocele

A rare case of recurrent meningitis due to congenital anterior sacral meningocele and agenesis of the sacral and coccygeal vertebrae is described. An autosomal dominant inheritance is demonstrated for lower cord malformation, and environmental factors (chromic acid or fumes) are discussed.

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“Father’s Kin”, or “Autosomal Dominant Inheritance”: Reconsidering the Opposition between Illness and Disease

Этнографическое обозрение ◽

10.31857/s086954150007773-0 ◽

2019 ◽

Keyword(s):

Autosomal Dominant ◽

Autosomal Dominant Inheritance ◽

Dominant Inheritance ◽

Illness And Disease

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Effective variant filtering and expected candidate variant yield in studies of rare human disease

npj Genomic Medicine ◽

10.1038/s41525-021-00227-3 ◽

2021 ◽

Vol 6 (1) ◽

Author(s):

Brent S. Pedersen ◽

Joe M. Brown ◽

Harriet Dashnow ◽

Amelia D. Wallace ◽

Matt Velinder ◽

...

Keyword(s):

Whole Genome Sequencing ◽

Rare Disease ◽

Genome Sequencing ◽

Autosomal Dominant ◽

De Novo ◽

Autosomal Dominant Inheritance ◽

Compound Heterozygous ◽

Whole Genome ◽

Dominant Inheritance ◽

Family Based

AbstractIn studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and software used to prioritize high-confidence variants vary from study to study. In an effort to establish recommendations for rare disease research, we explore effective guidelines for variant (SNP and INDEL) filtering and report the expected number of candidates for de novo dominant, recessive, and autosomal dominant modes of inheritance. We derived these guidelines using two large family-based cohorts that underwent whole-genome sequencing, as well as two family cohorts with whole-exome sequencing. The filters are applied to common attributes, including genotype-quality, sequencing depth, allele balance, and population allele frequency. The resulting guidelines yield ~10 candidate SNP and INDEL variants per exome, and 18 per genome for recessive and de novo dominant modes of inheritance, with substantially more candidates for autosomal dominant inheritance. For family-based, whole-genome sequencing studies, this number includes an average of three de novo, ten compound heterozygous, one autosomal recessive, four X-linked variants, and roughly 100 candidate variants following autosomal dominant inheritance. The slivar software we developed to establish and rapidly apply these filters to VCF files is available at https://github.com/brentp/slivar under an MIT license, and includes documentation and recommendations for best practices for rare disease analysis.

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Birt-Hogg-Dubé Syndrome: Report of a New Mutation

Canadian Respiratory Journal ◽

10.1155/2012/734985 ◽

2012 ◽

Vol 19 (3) ◽

pp. 193-195 ◽

Cited By ~ 6

Author(s):

Habib U Rehman

Keyword(s):

Autosomal Dominant ◽

Present Report ◽

Germline Mutations ◽

New Mutation ◽

Truncated Protein ◽

Pulmonary Cysts ◽

Syndrome Report

Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis caused by germline mutations in the folliculin gene and characterized by facial papules, pulmonary cysts, kidney tumours and recurrent pneumothoraces. Several distinct mutations in the folliculin gene resulting in a truncated protein have been described. The present report describes a new mutation, which has not been reported in individuals with Birt-Hogg-Dubé syndrome but is of a type predicted to cause disease.

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A rare case of unilateral postaxial duplicated foot in a developmentally normal child

Journal of Orthopaedic Surgery ◽

10.1177/2309499016684989 ◽

2017 ◽

Vol 25 (1) ◽

pp. 230949901668498 ◽

Cited By ~ 1

Author(s):

Haniza Sahdi ◽

Chan Wai Hoong ◽

Ahmad Hata Rasit ◽

Fredy Arianto ◽

Lau Kiew Siong ◽

...

Keyword(s):

Popliteal Artery ◽

Normal Child ◽

Rare Case ◽

Unusual Case ◽

Organ System ◽

Lateral Aspect ◽

Posterior Branch ◽

Rare Congenital Disorder ◽

Definitive Surgery ◽

Radiological Studies

Diplopodia, being a rare congenital disorder, is infrequently discussed in published texts. Most reported cases have accounted the involvement of duplicated preaxial digits with other associated organ system and physical deformities. Here, we present an unusual case of isolated diplopodia involving postaxial toes in a child with no other organ and physical abnormalities. Radiological studies revealed a set of 10-digit-duplicated foot over the lateral aspect of the native foot, complete with phalanges and its corresponding metatarsals as well as tarsals, supplied by an anomalous posterior branch of the popliteal artery. Definitive surgery was performed just before the child was learning to walk.

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Molariform Mesiodens in Primary Dentition

Case Reports in Dentistry ◽

10.1155/2013/750107 ◽

2013 ◽

Vol 2013 ◽

pp. 1-4

Author(s):

Sachin B. Mangalekar ◽

Tajammul Ahmed ◽

M. Zakirulla ◽

Halawar Sangmesh Shivappa ◽

F. B. Bheemappa ◽

...

Keyword(s):

Rare Case ◽

Treatment Plan ◽

Permanent Dentition ◽

Primary Dentition ◽

Occlusal Surface ◽

Radiographic Examination ◽

Supernumerary Tooth ◽

Dentigerous Cysts ◽

Delayed Eruption ◽

Maxillary Arch

Mesiodens is a midline supernumerary tooth commonly seen in the maxillary arch, and incidence of molariform mesiodens in the maxillary midline is rare in permanent dentition and extremely uncommon in primary dentition. A midline supernumerary tooth in the primary dentition can cause ectopic or delayed eruption of permanent central incisors which will further alter occlusion and may compromise esthetics and formation of dentigerous cysts. This paper reports a rare case of the presence of a molariform mesiodens in the primary dentition. On clinical and radiographic examination, flaring of the primary central incisors was seen, with a molariform mesiodens consisting of multiple lobes or tubercles on the occlusal surface with the well-formed root. The treatment plan consisted of the extraction of the supernumerary tooth and regular observation of permanent central incisors for proper eruption and alignment.

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