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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 1
1971 1
1974 2
1976 1
1979 2
1981 1
1983 1
1985 1
1986 1
1987 2
1988 5
1989 3
1990 1
1991 1
1992 3
1993 1
1994 4
1995 3
1996 3
1997 4
1998 2
1999 4
2000 5
2001 6
2002 1
2003 5
2005 4
2006 3
2007 2
2008 4
2009 7
2010 6
2011 4
2012 5
2013 6
2014 1
2015 11
2016 5
2017 9
2018 12
2019 8
2020 7
2021 7
2022 2
2023 7
2024 3

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158 results

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Page 1
When to Suspect a Diagnosis of Amyloidosis.
Vaxman I, Gertz M. Vaxman I, et al. Acta Haematol. 2020;143(4):304-311. doi: 10.1159/000506617. Epub 2020 Apr 27. Acta Haematol. 2020. PMID: 32340017 Free article. Review.
Light chain (AL) amyloidosis may present with highly specific signs such as macroglossia and periorbital purpura, but these signs are insensitive. ...
Light chain (AL) amyloidosis may present with highly specific signs such as macroglossia and periorbital purpura, but these signs are …
Hypothyroidism and hyperthyroidism.
Guerri G, Bressan S, Sartori M, Costantini A, Benedetti S, Agostini F, Tezzele S, Cecchin S, Scaramuzza A, Bertelli M. Guerri G, et al. Acta Biomed. 2019 Sep 30;90(10-S):83-86. doi: 10.23750/abm.v90i10-S.8765. Acta Biomed. 2019. PMID: 31577260 Free PMC article. Review.
Common clinical features include decreased activity and increased sleep, feeding difficulty, constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, distended abdomen with umbilical hernia, and hypotonia. ...
Common clinical features include decreased activity and increased sleep, feeding difficulty, constipation, prolonged jaundice, myxedematous …
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER. Brioude F, et al. Nat Rev Endocrinol. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. Epub 2018 Jan 29. Nat Rev Endocrinol. 2018. PMID: 29377879 Free PMC article. Review.
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. . …
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgr …
Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.
Dietrich E, Grimaux X, Martin L, Samimi M. Dietrich E, et al. Ann Dermatol Venereol. 2022 Dec;149(4):228-237. doi: 10.1016/j.annder.2022.03.011. Epub 2022 Oct 11. Ann Dermatol Venereol. 2022. PMID: 36229262 Review.
BACKGROUND: The objective of this literature review was to list the different etiologies of macroglossia reported in the literature, to identify characteristics that might guide diagnosis, and to create a diagnostic algorithm. ...The most common congenital causes were aneu …
BACKGROUND: The objective of this literature review was to list the different etiologies of macroglossia reported in the literature, …
ENT and mucopolysaccharidoses.
Bianchi PM, Gaini R, Vitale S. Bianchi PM, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):127. doi: 10.1186/s13052-018-0555-0. Ital J Pediatr. 2018. PMID: 30442170 Free PMC article. Review.
Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent otitis media and persistent otitis media with effusion, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sle …
Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent …
Alpha-mannosidosis.
Malm D, Nilssen Ø. Malm D, et al. Orphanet J Rare Dis. 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. Orphanet J Rare Dis. 2008. PMID: 18651971 Free PMC article. Review.
The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, and prognathism. Slight strabismus is common. ...
The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced te …
Wiedemann-Beckwith syndrome.
Engström W, Lindham S, Schofield P. Engström W, et al. Eur J Pediatr. 1988 Jun;147(5):450-7. doi: 10.1007/BF00441965. Eur J Pediatr. 1988. PMID: 3044795 Review.
The Wiedemann-Beckwith syndrome (WBS) comprises an accumulation of multiple congenital anomalies. Exomphalos, macroglossia and gigantism are considered the most common manifestations, hence the alternative designation EMG-syndrome. ...
The Wiedemann-Beckwith syndrome (WBS) comprises an accumulation of multiple congenital anomalies. Exomphalos, macroglossia and gigant …
Craniofacial Interventions in Children.
Hopkins B, Dean K, Appachi S, Drake AF. Hopkins B, et al. Otolaryngol Clin North Am. 2019 Oct;52(5):903-922. doi: 10.1016/j.otc.2019.06.002. Epub 2019 Jul 26. Otolaryngol Clin North Am. 2019. PMID: 31353139 Review.
Craniofacial interventions are common and the surgical options continue to grow. The issues encountered include micrognathia, macroglossia, midface hypoplasia, hearing loss, facial nerve palsy, hemifacial microsomia, and microtia. ...
Craniofacial interventions are common and the surgical options continue to grow. The issues encountered include micrognathia, macroglossi
Tongue Reduction for Macroglossia.
McCrossan S, Martin S, Hill C. McCrossan S, et al. J Craniofac Surg. 2021 Jul-Aug 01;32(5):1856-1859. doi: 10.1097/SCS.0000000000007276. J Craniofac Surg. 2021. PMID: 33235175 Review.
INTRODUCTION: Macroglossia is a term used to describe a large tongue which protrudes outside of the mouth while in a resting position (Balaji, 2013). It is a cardinal sign in children with Beckwith-Wiedemann syndrome and can also be found in children with Down syndrome and …
INTRODUCTION: Macroglossia is a term used to describe a large tongue which protrudes outside of the mouth while in a resting position …
Amyloid and amyloidosis.
Breathnach SM. Breathnach SM. J Am Acad Dermatol. 1988 Jan;18(1 Pt 1):1-16. doi: 10.1016/s0190-9622(88)70001-8. J Am Acad Dermatol. 1988. PMID: 3279077 Review.
The occurrence of waxy, purpuric mucocutaneous lesions provides a crucial early pointer to underlying occult plasma cell dyscrasia; the combination of the symptoms of the carpal tunnel syndrome, macroglossia, and specific mucocutaneous lesions is highly characteristic. ...
The occurrence of waxy, purpuric mucocutaneous lesions provides a crucial early pointer to underlying occult plasma cell dyscrasia; the comb …
158 results