The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature
[ncbi.nlm.nih.gov]
J Anaesthesiol 2015;8:455-7 Introduction Schwartz-Jampel syndrome (SJS) is a rare genatic disorder affecting muscloskeletal system disease characterized by micrognathia, microstomia
[asja.eg.net]
[…] is an autosomal recessive trait characterized by mask-like face, narrow palpebral fissures (due to blepharophimosis, blepharospasm, and abnormal orbital configuration), microstomia
[ncbi.nlm.nih.gov]
These findings suggest that regular application of the proposed exercise program may be useful in the management of microstomia in SSD patients.
[ncbi.nlm.nih.gov]
In cases of microstomia due to scleroderma, increased levels of orbicularis oris muscle tension is observed 1,7.
[prime-journal.com]
Abstract Scleroderma is a disorder involving oral and facial tissues, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia.
[ncbi.nlm.nih.gov]
It is characterized growth retardation, microcephaly, microphthalmia, ocular hypertelorism, ptosis, microstomia, distinctively clenched fingers and other congenital malformations
[symptoma.com]
Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers.
[web.archive.org]
Note the microphthalmia, micrognathia/retrognathia, microstomia, low-set/malformed ears, short sternum, and abnormally clenched fingers in an infant with trisomy 18 (Edwards
[emedicine.com]
The second case involved heart disease, microstomia, round and rotated ears and branchial cyst. Total T-lymphocytes were 38% and total T4-lymphocytes 27%.
[ncbi.nlm.nih.gov]
Microstomia was found in 64.3% (9/14) of the patients, and 57.2% (8/14) had palate defects, micrognathia, and short stature.
[scielo.br]
The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia
[ncbi.nlm.nih.gov]
Down syndrome is the most common and best known chromosomal disorder in humans. It is typically associated with mental retardation, developmental delays and a particular set of facial characteristics. The three genetic variations that can cause Down syndrome include: Trisomy 21, mosaic Down syndrome and[…]
[symptoma.com]
Reference Pereira JL Silva AP The correction of microstomia following South American blastomycosis: a case report.
[jprasurg.com]
In this report, we describe a case of microstomia associated with club feet and ulnar deviation of the hands (Freeman-Sheldon syndrome) and the surgical technique for correction
[ncbi.nlm.nih.gov]
[…] for a rare disease Freeman-Sheldon syndrome Disease definition Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia
[orpha.net]
Fetal alcohol syndrome (FAS), various congenital abnormalities in the newborn infant that are caused by the mother’s ingestion of alcohol about the time of conception or during pregnancy. Fetal alcohol syndrome is the most-severe type of fetal alcohol spectrum disorder (FASD). The syndrome appears to result from[…]
[britannica.com]
A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation.
[ncbi.nlm.nih.gov]
[…] is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia
[malacards.org]
The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft
[ncbi.nlm.nih.gov]
Extensive intraoral erosions are common, with scarring, microstomia and ankyloglossia.
[kissesforkatie.org]
[…] disease", [4] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia
[ipfs.io]
[…] disease", [12] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia
[en.wikipedia.org]
[…] disease", [4] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia
[ipfs.io]
[…] disease", [12] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia
[en.wikipedia.org]
• Hair gowth on scalp and body impared• Scarring digits undergo progressive contractures• Scarring Alopecia• Pseudosyndactyly• Oral lesions – Ankyloglossia, microstomia.
[slideshare.net]
The presence of mandibular hypoplasia and microstomia may result in difficult tracheal intubation which will require preoperative preparation.
[accesspediatrics.mhmedical.com]
In the patients with Hallermann-Streiff Syndrome, presence of mandibular hypoplasia and microstomia results in difficult intubation.
[ncbi.nlm.nih.gov]
The nose appeared thin, sharp and hooked; the prominence of the chin was absent in the lateral view; a marked microstomia was evident as well.
[ncbi.nlm.nih.gov]
[…] recessive form of EB presents the greatest oral alterations including repeated blistering and scar formation leading to limited oral opening, ankyloglossia, tongue denudation, microstomia
[ncbi.nlm.nih.gov]
Conventional dentures were not possible due to severe microstomia and the fragility of the denture-bearing tissues.
[ncbi.nlm.nih.gov]
Extensive intraoral erosions are common, with scarring, microstomia and ankyloglossia.
[kissesforkatie.org]
Fine-Lubinsky syndrome was described in 1993, as a very rare syndrome which entails craniofacial anomalies, bilateral hearing loss, cataract, microstomia (small mouth), central
[ora.uniurb.it]
Narrow mouth Microstomia, Small oral aperture, Small mouth [more] Distance between the commissures of the mouth more than 2 SD below the mean.
[rarediseases.oscar.ncsu.edu]
[…] elevation Dextrocardia Peters plus syndrome Macroglossia Acromelic frontonasal dysostosis Minicore myopathy, antenatal onset, with arthrogryposis Malignant hyperthermia Agnathia-microstomia-synotia
[checkrare.com]
[…] based on the sound of your voice | NPR & Houston Public Media The development of rigid scar tissue that distorts the laryngeal and mandibular anatomy, or the development of microstomia
[lalanguefrancaise.com]
QUIRURGICO CON TECNICAS DE RECONSTRUCCION 5 2000 LABIO LEPORINO BILATERAL 5 2000 LABIO LEPORINO CON AFECTACION OSEA, UNI O BILATERAL 5 2000 MACROSTOMIA 5 2000 MICROSTOMIA
[1library.co]
QUIRURGICO CON TECNICAS DE RECONSTRUCCION HD 5 2000 LABIO LEPORINO BILATERAL HD 5 2000 LABIO LEPORINO CON AFECTACION OSEA, UNI O BILATERAL HD 5 2000 MACROSTOMIA HD 5 2000 MICROSTOMIA
[1library.co]
Microstomia is a result of diffuse fibrosis within the orbicularis oris muscle.
[journals.lww.com]
Precautions before anesthesia Evaluate the airway for difficult tracheal intubation (microstomia).
[accesspediatrics.mhmedical.com]
We noted that despite microstomia and micrognathia, the oral cavity seemed to be not so small. This may have been because of the microglossia and high arched palate.
[journals.lww.com]
Other facial characteristics are hypertelorism, microstomia with thin lips and flat philtrum, and an underdeveloped maxilla.
[accesspediatrics.mhmedical.com]
[…] also known as Arachnodactyly-intellectual disability-dysmorphism syndrome, is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia
[dovemed.com]
[…] congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia
[orpha.net]
Carpal deformity - micrognathia - microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.
[checkorphan.org]
Krauss Herman Holmes syndrome Krauss Herman Holmes syndrome: Another name for Carpal deformity - micrognathia - microstomia (or close medical condition association).
[checkorphan.org]
NICE Guidance on Microstomia NHS PRODIGY Guidance FDA on Microstomia CDC on Microstomia Books Books on Microstomia News Microstomia in the news Be alerted to news on Microstomia
[wikidoc.org]
In 1983, Fine and Lubinsky reported a single patient with craniofacial anomalies, hearing loss, cataracts, microstomia, CNS anomalies, and developmental delay.
[houstonmethodist-staging.elsevierpure.com]
Abstract In 1983, Fine and Lubinsky reported a single patient with craniofacial anomalies, hearing loss, cataracts, microstomia, CNS anomalies, and developmental delay.
[pubmed.ncbi.nlm.nih.gov]
The prenatal detection in the second trimester of pregnancy of a fetus with craniosynostosis, wide metopic suture, and wormian bone associated with bowing of the long bones, unilateral short femur, and focal fibula deficiency is reported. These ultrasonographic findings when not supported by a diagnostic molecular[…]
[ncbi.nlm.nih.gov]
Malformative syndrome of the skeleton characterized by hypoplasia of carpal bones, microstomia, and micrognathia. Carpal Deformity with Micrognathia and Microstomia.
[accessanesthesiology.mhmedical.com]
Synonym Carpal Deformity Micrognathia Microstomia Syndrome. Incidence Two cases have been reported from the same family, ie, a mother and her son.
[accessanesthesiology.mhmedical.com]
Carpal deformity - micrognathia - microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.
[checkorphan.org]
Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate,
[uniprot.org]
Other clinical features include microstomia, microcephaly, hypoplasia of the maxillary, and micrognathia.
[accessanesthesiology.mhmedical.com]
Additional features can include microstomia, micrognathia, full lips, and a narrow nose with a high nasal bridge.
[cags.org.ae]
Keywords: Vesiculobullous lesions, dystrophic epidermolysis bullosa, oligodontia, microstomia, ankyloglossia How to cite this article: Sharma S, Bedi S.
[idoj.in]
Extracutaneous 4 manifestations include: dystrophy or absence of nails, sparse head hair or alopecia, excessive dental caries, microstomia, mouth ulcers, lingual tip fixation
[revistanefrologia.com]
Teeth are normal in this form. [2] In the present case, repeated blistering and ulceration which healed with scarring, lead to microstomia.
[contempclindent.org]
Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia.
[malacards.org]
Additional findings may include prominent cheeks, microstomia, and glossoptosis. read more
[ctgt.net]
[…] craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia
[malacards.org]
[…] extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia
[zenodo.org]
He had long narrow face, tapering chin, low set ears, and microstomia.
[ncbi.nlm.nih.gov]
He was of medium height with a long narrow face, pointy tapering chin, saddle nose, broad nasal alae, low set ears, fused eyebrows, thin lips, and microstomia.
[ncbi.nlm.nih.gov]
[…] spectrum of manifestations into five types, is widely accepted [Table 2].[6] Table 2 Halls classification of oromandibular limb hypogenesis syndrome[6] AC associated with microstomia
[ncbi.nlm.nih.gov]
Abstract Otocephaly is a rare and lethal congenital malformation characterized by the presence of agnathia, microstomia, aglossia and synotia.
[pubmed.ncbi.nlm.nih.gov]
Freeman-Sheldon syndrome: surgical correction of microstomia: a case report.
[jprasurg.com]
The clinical spectrum includes cranio-facial: long philtrum mouth puckering microstomia H-shaped chin dimple orbital features hypotelorism 8 : drooping of the upper eyelids
[radiopaedia.org]
[…] details Abstract The Authors describe a case of Freeman-Sheldon Syndrome, a rare congenital autosomal dominant disorder (gene mapped on chromosome 11p15.5) characterized by microstomia
[link.springer.com]
Signs & Symptoms The craniofacial abnormalities in children with Hanhart syndrome can include a small mouth (microstomia); small jaw and deeply receding jaw (micrognathia)
[rarediseases.org]
The review of literature shows aglossia associated with other cranio-facial anomalies like microstomia, micrognathia, partial or complete anodontia, cleft palate, eye-lid
[jisppd.com]
