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1983 1
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Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ear lobes …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal b …
Deletion 22q13.3 syndrome.
Phelan MC. Phelan MC. Orphanet J Rare Dis. 2008 May 27;3:14. doi: 10.1186/1750-1172-3-14. Orphanet J Rare Dis. 2008. PMID: 18505557 Free PMC article.
Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly, full cheeks, bulbous nose, and pointed chin. Behavior is autistic-like with decreased perception of pain and habitual chewin …
Common physical traits include long eye lashes, large or unusual ears, relatively large hands, dysplastic toenails, full brow, dolicocephaly …
Brachymorphism-onychodysplasia-dysphalangism syndrome.
Verloes A, Bonneau D, Guidi O, Berthier M, Oriot D, Van Maldergem L, Koulischer L. Verloes A, et al. J Med Genet. 1993 Feb;30(2):158-61. doi: 10.1136/jmg.30.2.158. J Med Genet. 1993. PMID: 8445623 Free PMC article.
Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area, large mouth, pointed chin), microcephaly, hypo/aplasia of the terminal fifth digits, and (sub)normal intelligence. ...
Three unrelated children are reported with intrauterine proportionate growth retardation and facial dysmorphism (broad nose, flat malar area …
Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome.
Amenta S, Frangella S, Marangi G, Lattante S, Ricciardi S, Doronzio PN, Orteschi D, Veredice C, Contaldo I, Zampino G, Gentile M, Scarano E, Graziano C, Zollino M. Amenta S, et al. J Med Genet. 2022 Feb;59(2):189-195. doi: 10.1136/jmedgenet-2020-107225. Epub 2020 Dec 24. J Med Genet. 2022. PMID: 33361104
The facial phenotype slightly evolved with time to include thick eyebrows, elongated nose and pronounced pointed chin. Despite behaviour abnormalities, happy disposition and sociable attitudes were common. ...
The facial phenotype slightly evolved with time to include thick eyebrows, elongated nose and pronounced pointed chin. Despite …
SOFT syndrome with kohlschutter-Tonz syndrome.
Mondkar SA, Khadilkar V, Kasegaonkar P, Khadilkar A. Mondkar SA, et al. J Postgrad Med. 2024 Jan-Mar;70(1):56-59. doi: 10.4103/jpgm.jpgm_1001_22. J Postgrad Med. 2024. PMID: 37706418 Free PMC article.
Examination revealed severe short stature, dolichocephaly, broad forehead, deep set eyes, low set ears, bulbous nose, small, irregular teeth, pointed chin, and triangular facies. He had rhizomelic shortening, stubby fingers, pes planus, and scanty hair. ...
Examination revealed severe short stature, dolichocephaly, broad forehead, deep set eyes, low set ears, bulbous nose, small, irregular teeth …
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose and pointed chin. The severity of the neurological effects as well as the presence of other features is vari …
In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehea …
Silver-Russell syndrome. Clinical and etiopathological aspects of a model genomic imprinting entity.
Cammarata-Scalisi F, Callea M, Stock F, Zambito V, Sparago Á, Riccio A. Cammarata-Scalisi F, et al. Arch Argent Pediatr. 2020 Jun;118(3):e258-e264. doi: 10.5546/aap.2020.eng.e258. Arch Argent Pediatr. 2020. PMID: 32470262 Free article. English, Spanish.
Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, pointed chin, which results in a triangular face. It can also include body asymmetry, among other characteristics. ...
Silver-Russell syndrome is characterized by asymmetrical intrauterine growth retardation, with normal head circumference and small, point …
Anthropometric analysis of mandible: an important step for sex determination.
Alias A, Ibrahim A, Abu Bakar SN, Swarhib Shafie M, Das S, Abdullah N, Noor HM, Liao IY, Mohd Nor F. Alias A, et al. Clin Ter. 2018 Sep-Oct;169(5):e217-e223. doi: 10.7417/CT.2018.2082. Clin Ter. 2018. PMID: 30393808 Free article.
RESULTS: The Chi-square test showed that men were significantly association with square-shaped chin (92%), prominent muscle marking (85%) and everted gonial glare, whereas women had pointed chin (84%), less prominent muscle marking (90%) and inverted gonial glare (8 …
RESULTS: The Chi-square test showed that men were significantly association with square-shaped chin (92%), prominent muscle marking (85%) an …
Alagille syndrome caused by NOTCH2 mutation presented atypical pathological changes.
ShenTu Y, Mi X, Tang D, Jiang Y, Gao L, Ma X, Zhou B, Yang W, Shi J, Lan D, Chen G, Gong L. ShenTu Y, et al. Clin Chim Acta. 2021 Oct;521:258-263. doi: 10.1016/j.cca.2021.07.026. Epub 2021 Jul 29. Clin Chim Acta. 2021. PMID: 34332988
She presented a butterfly vertebrae and typical facial features including a prominent forehead, deep-set eyes, a pointed chin, and a straight nose with bulbous tip. Pathogenic heterozygous c.5857 C > T variant in NOTCH2 gene was found. ...
She presented a butterfly vertebrae and typical facial features including a prominent forehead, deep-set eyes, a pointed chin, …
Twenty-year follow-up of the facial phenotype of Brazilian patients with Sotos syndrome.
Castro MAA, Dos Santos JHV, Honjo RS, Yamamoto GL, Bertola DR, Hurst AC, Chorich LP, Layman LC, Kim CA, Kim HG. Castro MAA, et al. Am J Med Genet A. 2021 Dec;185(12):3916-3923. doi: 10.1002/ajmg.a.62454. Epub 2021 Aug 18. Am J Med Genet A. 2021. PMID: 34405946
The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral fissures, prognathism with a pointed chin, and a long and narrow face. We present a follow-up to a cohort of 11 individuals found to ha …
The most consistent physical features in this disorder are facial dysmorphisms including prominent forehead, downslanted palpebral fissures, …
35 results