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La Revue Du Praticien Oct 2023MARSHALL SYNDROME. Marshall syndrome also known as PFAPA syndrome belongs to the group of autoinflammatory diseases. The acronym reflects the main clinical features of...
MARSHALL SYNDROME. Marshall syndrome also known as PFAPA syndrome belongs to the group of autoinflammatory diseases. The acronym reflects the main clinical features of the disease: periodic fever, aphthous stomatitis, pharyngitis, and adenitis. It is the most common autoinflammatory disease, beginning between 1 and 5 years of age. There is little or no impact on growth, but the recurrence of febrile seizures can compromise the quality of life of patients. Clinical diagnosis meets positive and exclusion criteria. Putting it correctly allows a reassuring framework of care and avoids many unnecessary antibiotic treatments. Corticosteroid therapy is the reference treatment for the crisis. Tonsillectomy associated with adenoidectomy can be discussed but is not systematically recommended in this pathology, which is generally benign and most often heals spontaneously with age.
Topics: Humans; Stomatitis, Aphthous; Quality of Life; Cataract; Pharyngitis; Syndrome; Hearing Loss, Sensorineural; Osteochondrodysplasias; Craniofacial Abnormalities; Collagen Type XI
PubMed: 38354003
DOI: No ID Found -
American Journal of Medical Genetics Oct 1991We report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in...
We report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in type II collagen are reported. We compare and contrast Marshall syndrome with the Stickler syndrome, and propose that enough phenotypic overlap exists to suggest that they are probably allelic expressions of the same locus.
Topics: Abnormalities, Multiple; Collagen; Deafness; Female; Genes, Dominant; Humans; Infant, Newborn; Male; Pedigree; Phenotype; Pierre Robin Syndrome; Polyhydramnios; Retinal Degeneration; Syndrome
PubMed: 1951461
DOI: 10.1002/ajmg.1320410111 -
Indian Pediatrics Feb 2005
Topics: Abnormalities, Multiple; Cataract; Child; Cleft Palate; Humans; Male; Osteochondrodysplasias; Skull; Syndrome; Uvula
PubMed: 15767717
DOI: No ID Found -
JAAPA : Official Journal of the... Oct 2023Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is, as the name implies, characterized by an extremely regular cycle of fevers that is...
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome is, as the name implies, characterized by an extremely regular cycle of fevers that is accompanied by one or more other symptoms such as oral ulcers, pharyngitis, adenitis, tonsillitis, sore throat, cervical adenopathy, and headache. Originally known as Marshall syndrome, PFAPA is most commonly identified in children younger than age 5 years; however, adults may also present with the disease, though they may report additional symptoms. PFAPA is now understood to be a diagnosis of exclusion. Laboratory studies are typically unremarkable except for increases in acute phase reactants such as C-reactive protein. Treatment is primarily supportive and most frequently uses systemic steroids to suppress the inflammatory response. Acute flares are self-limited, and the syndrome typically resolves on its own as the child reaches age 7 or 8 years.
Topics: Adult; Child; Humans; Child, Preschool; Stomatitis, Aphthous; Lymphadenopathy; Lymphadenitis; Pharyngitis; Syndrome; Fever
PubMed: 37751263
DOI: 10.1097/01.JAA.0000977712.81696.b9 -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Abnormalities, Multiple; Collagen; Diagnosis, Differential; Face; Genes, Dominant; Hearing Loss, Sensorineural; Humans; Mutation; Myopia; Osteochondrodysplasias; Prognosis; Syndrome
PubMed: 11057199
DOI: No ID Found -
International Journal of Dermatology Jun 2015
Review
Topics: Cataract; Collagen Type XI; Craniofacial Abnormalities; Hearing Loss, Sensorineural; Humans; Male; Osteochondrodysplasias; Phenotype; Young Adult
PubMed: 25208889
DOI: 10.1111/ijd.12471 -
Journal of Medical Genetics Apr 1982A family originally reported as a variant of Marshall syndrome is re-examined. The clinical picture now encompasses both the Marshall and Stickler syndromes and it is...
A family originally reported as a variant of Marshall syndrome is re-examined. The clinical picture now encompasses both the Marshall and Stickler syndromes and it is suggested that the distinction between the two should be abandoned.
Topics: Adult; Child; Deafness; Female; Genetic Variation; Humans; Male; Myopia; Nose; Syndrome; Terminology as Topic; Zygoma
PubMed: 7077624
DOI: 10.1136/jmg.19.2.139 -
Otology & Neurotology : Official... Sep 2018Marshall syndrome is a genetic disorder caused by mutations in the COL11A1 gene. This syndrome is characterized by skeletal, ophthalmologic, craniofacial, and auditory...
OBJECTIVE
Marshall syndrome is a genetic disorder caused by mutations in the COL11A1 gene. This syndrome is characterized by skeletal, ophthalmologic, craniofacial, and auditory abnormalities. Hearing loss is among the main manifestations reported in this disorder being observed in approximately 80% of affected individuals.The present study aims to describe the audiologic characteristics of three members of a family with Marshall syndrome and also serves as a review of the literature.
STUDY DESIGN
Family study.
SETTING
Tertiary care otology and skull base center.
PATIENTS
We report the audiologic findings in a family with Marshall syndrome consisting of a mother and her son and daughter.
INTERVENTION(S)
The audiologic evaluation included tympanometry, acoustic reflexes testing, auditory brainstem response, transient otoacoustic emissions, pure-tone audiometry, speech audiometry in quiet, and conditioned play audiometry. These methods were applied according to the age of the patients. In addition, we provide a review of the English-language literature in an attempt to clarify the auditory phenotype of this syndrome.
RESULTS
All 3 affected individuals had heterozygous c.3816+1G>A mutation in the splicing donor site of intron 50 of the COL11A1 gene. All three patients in our study had bilateral sensorineural hearing loss. Hearing impairment ranged from mild to moderate in the daughter, moderate in the son, and from mild to moderate in their mother.
CONCLUSION
The majority of individuals with Marshall syndrome present early-onset bilateral sensorineural hearing loss. Hearing impairment is usually detected in early childhood, progresses gradually, and becomes stable in late adulthood, with a severity ranging from mild to severe.
Topics: Acoustic Impedance Tests; Adult; Audiology; Audiometry, Pure-Tone; Audiometry, Speech; Auditory Threshold; Cataract; Child, Preschool; Collagen Type XI; Craniofacial Abnormalities; Evoked Potentials, Auditory, Brain Stem; Female; Hearing Loss, Sensorineural; Humans; Male; Osteochondrodysplasias; Otoacoustic Emissions, Spontaneous
PubMed: 30020262
DOI: 10.1097/MAO.0000000000001896 -
American Journal of Medical Genetics.... Oct 2014Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar...
Marshall syndrome and type II Stickler syndrome are caused by mutations in COL11A1, which codes for the proα1chain of collagen XI. Collagen XI is a minor fibrillar collagen co-expressed with collagen II in cartilage and the vitreous of the eye. Characteristic features of Marshall syndrome include midfacial hypoplasia, high myopia, and sensorineural-hearing deficit. Deletions, insertions, splice site, and missense mutations in COL11A1 have been identified in Stickler syndrome and Marshall syndrome patients. In this study, we describe the clinical presentations of seven patients with Marshall syndrome from three unrelated Saudi families, inherited as autosomal dominant (two families) and autosomal recessive (one family). Cardinal clinical features of Marshall syndrome are manifested in all patients. One patient had ectodermal abnormalities. Mutations (c.2702G > A in exon 34,IVS50 + 1G > A, and IVS50 + lG > C) were identified in COL11A1 in affected members. Interestingly, the first report of autosomal recessive Marshall syndrome was from Saudi Arabia caused by the same mutation (c.2702G > A, p.Gly901Glu) as in one of our families. This study depicts detailed phenotypic and genetic description of dominant and recessive forms of Marshall syndrome due to COL11A1 mutations.
Topics: Adolescent; Adult; Cataract; Child; Collagen Type XI; Craniofacial Abnormalities; Exons; Female; Hearing Loss, Sensorineural; Humans; Infant; Male; Middle Aged; Mutation; Osteochondrodysplasias; Pedigree; Phenotype; Saudi Arabia; Young Adult
PubMed: 25073711
DOI: 10.1002/ajmg.a.36681 -
American Journal of Medical Genetics May 1997The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal... (Review)
Review
The Marshall syndrome is an autosomal dominant trait comprising ocular abnormalities, sensorineural hearing loss, craniofacial anomalies, and anhidrotic ectodermal dysplasia. To our knowledge, only seven additional multigenerational families have been reported since the initial description of the disorder by Marshall in 1958. We present a family in which six members in four generations are affected with apparent Marshall syndrome. We also review and compare similar disorders, such as Stickler, Weissenbacher-Zweimüller, and Wagner syndromes, and conclude that Marshall syndrome is a distinct entity.
Topics: Abnormalities, Multiple; Adolescent; Craniofacial Abnormalities; Ectodermal Dysplasia; Eye Abnormalities; Female; Hearing Loss, Sensorineural; Humans; Male; Pedigree; Syndrome
PubMed: 9129742
DOI: 10.1002/(sici)1096-8628(19970502)70:1<52::aid-ajmg11>3.0.co;2-w