Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B.

ABSTRACT: Aglossia is a rare congenital malformation that often occurs as an isolated disorder or is observed in association with other congenital deformities, particularly limb defects. We present a unique case of a 7-year-old girl with aglossia, hypodactyli, rudimentary ears, retrognathic and V-shaped mandible. Her parental history revealed intrauterine exposure of medicines. The patient had problems in difficulty in eating, speech, taste sensation and hearing. The present case does not fit into Hall's classification of oromandibular limb hypogenesis syndrome (OLHS) which best describes hypoglossia and limb deformities. Therefore, the purpose of this article is to document the rare variant of OLHS which can be included in Hall's classification. How to cite this article: Kalaskar RR, Godhane A, Kalaskar A, Demble S. A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B. Int J Clin Pediatr Dent 2016;9(1):78-81.

SUBMITTER: Kalaskar RR

PROVIDER: S-EPMC4890068 | biostudies-literature | 2016 Jan-Mar

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

A Rare Clinical Variant of Oromandibular Limb Hypogenesis Syndrome Type I B.

Kalaskar Ritesh Rambharos RR Godhane Alkesh A Kalaskar Ashita A Demble Swati S

International journal of clinical pediatric dentistry 20160101 1

Aglossia is a rare congenital malformation that often occurs as an isolated disorder or is observed in association with other congenital deformities, particularly limb defects. We present a unique case of a 7-year-old girl with aglossia, hypodactyli, rudimentary ears, retrognathic and V-shaped mandible. Her parental history revealed intrauterine exposure of medicines. The patient had problems in difficulty in eating, speech, taste sensation and hearing. The present case does not fit into Hall's ...[more]

PMID: 27274161

Similar Datasets

Oromandibular Limb Hypogenesis Syndrome Type IIB: Case Report of Hypoglossia-Hypodactyly.

Project description:Hypoglossia-hypodactyly is a rare congenital anomaly affecting the tongue and the limbs. Hall in 1971 classified it under a complex group of disorders called oromandibular limb hypogenesis syndromes. It is an extremely rare condition with around 40 cases reported in the world literature. The cause of the syndrome is unknown. Some type of intrauterine trauma is the most widely accepted etiology. The characteristic features of the syndrome are hypoglossia, limb anomalies of variable degree, and micrognathia of the mandible. This unique case report of hypoglossia-hypodactyly was observed in a patient with normal mandible. In addition, patient also had pulmonary regurgitation. His parents and other siblings were normal. Positive prenatal history of maternal hyperthermia was obtained suspecting it to be the cause of the syndrome.

| S-EPMC3575672 | biostudies-literature

Type IA Oromandibular-Limb Hypogenesis Syndrome: A Case Report and A Case Update.

Project description:Hypoglossia is a rare congenital anomaly resulting in a small rudimentary tongue. It is classified under the oromandibular-limb hypogenesis syndrome and can be found in isolation (Type IA) but is more often associated with other congenital disorders, such as limb defects. Isolated hypoglossia cases are rare, and while feeding disorders are common, in some cases, neonatal airway obstruction is the most problematic. In the present report, we discuss two cases of newborns presenting with hypoglossia without limb deformities or visceral anomalies: one new case and a 10-year update of a previously reported case. These two cases highlight the variability in presenting symptoms and the challenges in diagnosis and management of a rare clinical entity. We focus on the discussion of early diagnosis, multidisciplinary management, and shared decision-making, with emphasis on the current therapeutic strategies available to the clinician and their limitations during the neonatal period. Early surgical multivector mandibular distraction osteogenesis can be proposed with minimal short- and long-term morbidity, pending a consistent follow-up. This clinical entity will require multidisciplinary team care into adult years.

| S-EPMC9153858 | biostudies-literature

Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III.

Project description:Oromandibular limb hypogenesis syndrome (OMLH; OMIM 103300) encompasses a group of uncommon disorders characterized by malformations in the mouth, jaw and limbs. It has been associated with various entities such as gastroschisis, pulmonary hypoplasia, intestinal atresia, renal agenesis, hydrocephalus and other syndromes. We describe a boy of Mexican origin with features of OMLH. In addition, brain magnetic resonance imaging shows cerebral hemiatrophy and hemihypoplasia and an ipsilateral arachnoid cyst, as well as microcephaly and frontal nevus flammeus were observed. This association, to the best of our knowledge, has not been previously reported in the literature and could be part of a same spectrum of vascular defect with OMLH.

| S-EPMC5020958 | biostudies-literature

Blepharospasm, Oromandibular Dystonia, and Meige Syndrome: Clinical and Genetic Update.

Project description:Meige syndrome (MS) is cranial dystonia characterized by the combination of upper and lower cranial involvement and including binocular eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). The etiology and pathogenesis of this disorder of the extrapyramidal system are not well-understood. Neurologic and ophthalmic examinations often reveal no abnormalities, making diagnosis difficult and often resulting in misdiagnosis. A small proportion of patients have a family history of the disease, but to date no causative genes have been identified to date and no cure is available, although botulinum toxin A therapy effectively mitigates the symptoms and deep brain stimulation is gaining increasing attention as a viable alternative treatment option. Here we review the history and progress of research on MS, BSP, and OMD, as well as the etiology, pathology, diagnosis, and treatment.

| S-EPMC8039296 | biostudies-literature

A novel variant in AIRE causing a rare, non?classical autoimmune polyendocrine syndrome type 1.

Project description:Autoimmune polyendocrine syndrome type 1 (APS?1) is a rare inherited autoimmune disease, characterized by a classic triad, including chronic mucocutaneous candidiasis, primary adrenocortical insufficiency and hypoparathyroidism. The present study investigated phenotypes and pathogenic variants in a Chinese woman with non?classical APS?1. Disease?associated variants in a patient with APS?1 were identified via targeted next generation sequencing and the variant was confirmed via Sanger sequencing. Serum levels of calcium, phosphorus, parathyroid hormone (PTH), follicle?stimulating hormone (FSH), luteinizing hormone (LH), estradiol and urinary levels of calcium were measured. Blood count assays and bone marrow morphology were investigated. The patient was a 32?year?old woman who had suffered from typical carpopedal spasms since she was 7 years old. She developed syncope, primary amenorrhea, intermittent diarrhea and general fatigue in subsequent years. Hypocalcemia, hyperphosphatemia, low levels of PTH and estradiol, elevated levels of FSH and LH, and absence of erythroblasts were observed, which indicated hypoparathyroidism, primary ovarian insufficiency and pure red cell aplasia. A novel heterozygous missense variant (NM_000383.2: c.623G>T, NP_000374.1: p.Gly208Val) in exon 5 of autoimmune regulator and a reported variant (NM_000383.2: c.371C>T, NP_000374.1: p.Pro124Leu) in exon 3 were detected, of which the c.623G>T variant may be a pathogenic variation that induces APS?1. Under a regular follow?up and therapeutic adjustment of calcium, calcitriol, hormone replacement therapy and methylprednisolone, the endocrine function and clinical symptoms of the patient were notably improved. The results of the present study expand the known genetic and phenotypical spectra of APS?1.

| S-EPMC7339480 | biostudies-literature

Oromandibular Dystonia: A Clinical Examination of 2,020 Cases.

Project description:Objective: The goal of this study is to better characterize the phenotypic heterogeneity of oromandibular dystonia (OMD) for the purpose of facilitating early diagnosis. Methods: First, we provide a comprehensive summary of the literature encompassing 1,121 cases. Next, we describe the clinical features of 727 OMD subjects enrolled by the Dystonia Coalition (DC), an international multicenter cohort. Finally, we summarize clinical features and treatment outcomes from cross-sectional analysis of 172 OMD subjects from two expert centers. Results: In all cohorts, typical age at onset was in the 50s and 70% of cases were female. The Dystonia Coalition cohort revealed perioral musculature was involved most commonly (85%), followed by jaw (61%) and tongue (17%). OMD more commonly appeared as part of a segmental dystonia (43%), and less commonly focal (39%) or generalized (10%). OMD was found to be associated with impaired quality of life, independent of disease severity. On average, social anxiety (LSA score: 33 ± 28) was more common than depression (BDI II score: 9.7 ± 7.8). In the expert center cohorts, botulinum toxin injections improved symptom severity by more than 50% in ~80% of subjects, regardless of etiology. Conclusions: This comprehensive description of OMD cases has revealed novel insights into the most common OMD phenotypes, pattern of dystonia distribution, associated psychiatric disturbances, and effect on QoL. We hope these findings will improve clinical recognition to aid in timely diagnosis and inform treatment strategies.

| S-EPMC8481678 | biostudies-literature

Hirayama's Disease: A Rare Clinical Variant of Amyotrophic Lateral Sclerosis.

Project description:Hirayama's disease is a rare clinical variant of amyotrophic lateral sclerosis where distal muscles are involved more compared to proximal muscles and vice-versa occurs only in 10% cases and so it is differentiated from O'Sullivan McLeod syndrome which involves only small muscles of single limb. Here, we present a case of Hirayama's disease where disease achieved a plateau after 3 years with no further progression. His electrophysiological studies, and clinical picture, and magnetic resonance imaging findings were consistent with a diagnosis of Hirayama's disease.

| S-EPMC5549545 | biostudies-other

Exome-Wide Rare Variant Analyses in Sudden Infant Death Syndrome.

Project description:OBJECTIVE:To determine whether a monogenic basis explains sudden infant death syndrome (SIDS) using an exome-wide focus. STUDY DESIGN:A cohort of 427 unrelated cases of SIDS (257 male; average age?=?2.7?±?1.9 months) underwent whole-exome sequencing. Exome-wide rare variant analyses were carried out with 278 SIDS cases of European ancestry (173 male; average age?=?2.7?±?1.98 months) and 973 ethnic-matched controls based on 6 genetic models. Ingenuity Pathway Analysis also was performed. The cohort was collected in collaboration with coroners, medical examiners, and pathologists by St George's University of London, United Kingdom, and Mayo Clinic, Rochester, Minnesota. Whole-exome sequencing was performed at the Genomic Laboratory, Kings College London, United Kingdom, or Mayo Clinic's Medical Genome Facility, Rochester, Minnesota. RESULTS:Although no exome-wide significant (P?<?2.5?×?10-6) difference in burden of ultra-rare variants was detected for any gene, 405 genes had a greater prevalence (P?<?.05) of ultra-rare nonsynonymous variants among cases with 17 genes at P?<?.005. Some of these potentially overrepresented genes may represent biologically plausible novel candidate genes for a monogenic basis for a portion of patients with SIDS. The top canonical pathway identified was glucocorticoid biosynthesis (P?=?.01). CONCLUSIONS:The lack of exome-wide significant genetic associations indicates an extreme heterogeneity of etiologies underlying SIDS. Our approach to understanding the genetic mechanisms of SIDS has far reaching implications for the SIDS research community as a whole and may catalyze new evidence-based SIDS research across multiple disciplines. Perturbations in glucocorticoid biosynthesis may represent a novel SIDS-associated biological pathway for future SIDS investigative research.

| S-EPMC6394853 | biostudies-literature

A dominant vimentin variant causes a rare syndrome with premature aging.

Project description:Progeroid syndromes are a group of rare genetic disorders, which mimic natural aging. Unraveling the molecular defects in such conditions could impact our understanding of age-related syndromes such as Alzheimer's or cardiovascular diseases. Here we report a de novo heterozygous missense variant in the intermediate filament vimentin (c.1160 T > C; p.(Leu387Pro)) causing a multisystem disorder associated with frontonasal dysostosis and premature aging in a 39-year-old individual. Human vimentin p.(Leu387Pro) expression in zebrafish perturbed body fat distribution, and craniofacial and peripheral nervous system development. In addition, studies in patient-derived and transfected cells revealed that the variant affects vimentin turnover and its ability to form filaments in the absence of wild-type vimentin. Vimentin p.(Leu387Pro) expression diminished the amount of peripilin and reduced lipid accumulation in differentiating adipocytes, recapitulating key patient's features in vivo and in vitro. Our data highlight the function of vimentin during development and suggest its contribution to natural aging.

| S-EPMC7609319 | biostudies-literature

Cushing's syndrome with no clinical stigmata - a variant of glucocorticoid resistance syndrome.

Project description:Background:Cortisol resistance syndrome is a very rare condition characterized by high cortisol levels, but without any clinical features of Cushing's syndrome. Our objective is to present such a case. Case presentation:A 41?year old female presented with mild hirsutism and elevated urinary cortisol levels. Plasma cortisol levels were elevated and were not suppressed by conventional doses of dexamethasone on multiple occasions, but decreased following administration of higher doses of dexamethasone. Adrenocorticotropic hormone (ACTH) levels were inappropriately elevated. Despite significantly elevated cortisol levels, she did not develop any clinical signs or symptoms of Cushing's syndrome. Pituitary and adrenal imaging did not reveal any abnormalities. Genetic testing for human glucocorticoid receptor did not reveal any mutations. Conclusions:Although we were not able to identify any new mutations, we believe that our patient has a variant of cortisol resistance syndrome. This syndrome should be considered in the differential diagnosis of patients who present with high levels of cortisol but have no clinical features of Cushing's syndrome.

| S-EPMC6299537 | biostudies-other

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data