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4,836 results

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Quoted phrase not found in phrase index: "Abnormality of the face"
Page 1
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B. Brancati F, et al. Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. Orphanet J Rare Dis. 2006. PMID: 17163996 Free PMC article. Review.
To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneo …
To date, KBG syndrome has been reported in 45 patients. Clinical features observed in more than half of patients that may support the …
Nasal dysplasia.
de Blécourt RA, Roddi R, Berg JP, Bloem JJ. de Blécourt RA, et al. Ann Plast Surg. 1996 Dec;37(6):633-7. doi: 10.1097/00000637-199612000-00011. Ann Plast Surg. 1996. PMID: 8988777
We report a case of a rare congenital nasal malformation. A young male patient was seen with a unilateral duplication of the left nostril. According to the morphogenetic classification, described by van der Meulen, this nasal malformation could be classified as a type IV n …
We report a case of a rare congenital nasal malformation. A young male patient was seen with a unilateral duplication of the left nos …
The telecanthus-hypospadias syndrome.
Stevens CA, Wilroy RS Jr. Stevens CA, et al. J Med Genet. 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. J Med Genet. 1988. PMID: 3050099 Free PMC article. Review.
The most frequent anomalies in patients previously reported are telecanthus 21/21, hypospadias 19/21, cleft lip/palate or uvula 7/21, high, broad nasal bridge 15/15, cranial abnormality 6/21, congenital heart defect 5/21, cryptorchidism 9/21, and mental retardation …
The most frequent anomalies in patients previously reported are telecanthus 21/21, hypospadias 19/21, cleft lip/palate or uvula 7/21, high, …
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, Wang T, Kurtz-Nelson EC, Ahlers KP, Arts P, Barnett CP, Ashfaq M, Baban A, van den Born M, Borrie S, Busa T, Byrne A, Carriero M, Cesario C, Chong K, Cueto-González AM, Dempsey JC, Diderich KEM, Doherty D, Farholt S, Gerkes EH, Gorokhova S, Govaerts LCP, Gregersen PA, Hickey SE, Lefebvre M, Mari F, Martinovic J, Northrup H, O'Leary M, Parbhoo K, Patrier S, Popp B, Santos-Simarro F, Stoltenburg C, Thauvin-Robinet C, Thompson E, Vulto-van Silfhout AT, Zahir FR, Scott HS, Earl RK, Eichler EE, Vora NL, Wilnai Y, Giordano JL, Wapner RJ, Rosenfeld JA, Haak MC, Santen GWE. van der Sluijs PJ, et al. Genet Med. 2022 Aug;24(8):1753-1760. doi: 10.1016/j.gim.2022.04.010. Epub 2022 May 18. Genet Med. 2022. PMID: 35579625 Free PMC article.
PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalies. The interpretation of prenatally identified variants can be challenging and is hampered by our often limited knowledge of prenatal phenot …
PURPOSE: Genome-wide sequencing is increasingly being performed during pregnancy to identify the genetic cause of congenital anomalie …
The human face: genes, embryological development and dysmorphology.
Bhat M. Bhat M. Int J Dev Biol. 2020;64(4-5-6):383-391. doi: 10.1387/ijdb.190312mb. Int J Dev Biol. 2020. PMID: 32658997 Free article. Review.
Clinical dysmorphology is a medical specialty which requires training to systematically observe aberrations in facial development and to understand patterns in the recognition of underlying genetic syndromes. ...A description of specific dysmorphisms of various parts of th …
Clinical dysmorphology is a medical specialty which requires training to systematically observe aberrations in facial development and …
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L. Kalaydjieva L. Orphanet J Rare Dis. 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. Orphanet J Rare Dis. 2006. PMID: 16939648 Free PMC article. Review.
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance. To date, CCFDN has been found to occur exclusively in patients of Roma (Gypsy) ethnicity; over 100 patients have been diagnosed. Deve …
Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheri …
The ARID1B phenotype: what we have learned so far.
Santen GW, Clayton-Smith J; ARID1B-CSS consortium. Santen GW, et al. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):276-89. doi: 10.1002/ajmg.c.31414. Epub 2014 Aug 28. Am J Med Genet C Semin Med Genet. 2014. PMID: 25169814 Review.
The vast majority of published ARID1B patients have been ascertained through studies of Coffin-Siris syndrome (CSS), which leads to bias when documenting the frequencies of phenotypic features. Additional observations of those individuals ascertained through exome sequenci …
The vast majority of published ARID1B patients have been ascertained through studies of Coffin-Siris syndrome (CSS), which leads to bias whe …
Evolution of fetal ultrasonography.
Avni FE, Cos T, Cassart M, Massez A, Donner C, Ismaili K, Hall M. Avni FE, et al. Eur Radiol. 2007 Feb;17(2):419-31. doi: 10.1007/s00330-006-0307-1. Epub 2006 May 30. Eur Radiol. 2007. PMID: 16733679 Review.
Applications of the techniques are increasing, especially for the fetal face, heart and extremities. The third field where fetal US is continuously providing important information is the knowledge of the natural history of diseases. ...
Applications of the techniques are increasing, especially for the fetal face, heart and extremities. The third field where fetal US i …
Attention challenges in Kabuki syndrome.
Kalinousky AJ, Rapp T, Harris JR. Kalinousky AJ, et al. J Intellect Disabil Res. 2024 Feb;68(2):173-180. doi: 10.1111/jir.13100. Epub 2023 Nov 3. J Intellect Disabil Res. 2024. PMID: 37921399
RESULTS: Attention Problems in children was the only behavioural category that, when averaged, was clinically significant, with the individual scores of nearly 50% of the children with KS falling in the problematic range. ...A significant correlation was found between Atte …
RESULTS: Attention Problems in children was the only behavioural category that, when averaged, was clinically significant, with the individu …
Growth charts in Kabuki syndrome 1.
Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365 Free article.
Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. ...For males and females, the …
Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by mul …
4,836 results