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Quoted phrase not found in phrase index: "Upper limb defect-eye and ear abnormalities syndrome"
Page 1
Epidermolysis bullosa with congenital absence of skin: Review of the literature.
Martinez-Moreno A, Ocampo-Candiani J, Alba-Rojas E. Martinez-Moreno A, et al. Pediatr Dermatol. 2020 Sep;37(5):821-826. doi: 10.1111/pde.14245. Epub 2020 Jul 20. Pediatr Dermatol. 2020. PMID: 32686866 Review.
BACKGROUND/OBJECTIVES: Bart syndrome was initially described as association of congenital absence of skin (CAS), nail abnormalities, and epidermolysis bullosa (EB). ...CAS involved the lower extremities in all patients, with additional upper limb …
BACKGROUND/OBJECTIVES: Bart syndrome was initially described as association of congenital absence of skin (CAS), nail abnor …
Upper and Lower Limb Anomalies in Craniofacial Microsomia and Its Relation to the OMENS+ Classification: A Multicenter Study of 688 Patients.
Renkema RW, Houwen T, van Nieuwenhoven CA, Padwa BL, Forrest CR, Dunaway DJ, Koudstaal MJ, Caron CJJM. Renkema RW, et al. Plast Reconstr Surg. 2023 May 1;151(5):1053-1061. doi: 10.1097/PRS.0000000000010090. Epub 2022 Dec 21. Plast Reconstr Surg. 2023. PMID: 36729069 Free PMC article.
Patients typically present with facial asymmetry, but extracraniofacial organ systems might be involved, including limb anomalies. The purpose of this study was to analyze the occurrence of upper and lower limb anomalies in CFM patients. ...In total, 18.2% of …
Patients typically present with facial asymmetry, but extracraniofacial organ systems might be involved, including limb anomalies. Th …
Genetic factors in isolated and syndromic laryngeal cleft.
Li Y, Rui X, Li N. Li Y, et al. Paediatr Respir Rev. 2020 Feb;33:24-27. doi: 10.1016/j.prrv.2019.09.004. Epub 2019 Oct 8. Paediatr Respir Rev. 2020. PMID: 31734186 Review.
A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence of fusion of the posterior cricoid lamina, which affects an abnormal communication between the larynx, trachea and esophagus. ...No …
A laryngotracheoesophageal cleft (LC) is a rare congenital anomaly of the upper aerodigestive tract resulting from the absence …
OMENS-plus syndrome.
Kapoor S, Mukherjee SB, Paul R, Dhingra B. Kapoor S, et al. Indian J Pediatr. 2005 Aug;72(8):707-8. doi: 10.1007/BF02724084. Indian J Pediatr. 2005. PMID: 16131780
The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus syndrome also includes extracraniofacial anomalies. ...A fourteen-year-old girl presented with hemifacial microsomia, digital abnormal …
The OMENS syndrome involves craniofacial maldevelopment of the orbit, ear cranial nerve and soft tissue, while OMENS-plus s …
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Beaudoux O, Lebre AS, Doco Fenzy M, Spodenkiewicz M, Canivet E, Colosio C, Poirsier C. Beaudoux O, et al. Am J Med Genet A. 2021 Mar;185(3):937-944. doi: 10.1002/ajmg.a.62050. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438842 Review.
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and initially characterized by the triad of anorectal, thumb, and ear malformations. ...Renal involvement has already been reported in adults …
Townes-Brocks syndrome (TBS) is a rare autosomal dominant syndrome, resulting from heterozygous variant in SALL1 gene and init …
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
Yan X, Wang J, Yang W, Li L, Shen T, Geng J, Zhang Q, Zhong M, Xiong W, Bu F, Lu Y, Zhao Y, Cheng J, Yuan H. Yan X, et al. J Med Genet. 2024 Apr 19;61(5):459-468. doi: 10.1136/jmg-2023-109579. J Med Genet. 2024. PMID: 38296632 Free PMC article.
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. ...Moreover, previously undocumented malformations in the middle and inner ear were detected in one patient. By comprehensive clinical evaluations, we furthe …
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. ...Moreover, previously …
Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature.
Oliver JD, Menapace DC, Cofer SA. Oliver JD, et al. Int J Pediatr Otorhinolaryngol. 2017 Jul;98:4-8. doi: 10.1016/j.ijporl.2017.04.035. Epub 2017 Apr 24. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28583501 Review.
Diagnosis of Hartsfield syndrome includes recognition of three distinct clinical anomalies: holoprosencephaly, ectrodactyly, and bilateral cleft-lip and palate syndrome. ...This report focuses on otorhinolaryngologic manifestationsof Hartsfield syndrome, prev …
Diagnosis of Hartsfield syndrome includes recognition of three distinct clinical anomalies: holoprosencephaly, ectrodactyly, and bila …
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.
Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y. Yang G, et al. BMC Med Genomics. 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. BMC Med Genomics. 2021. PMID: 33478437 Free PMC article.
BACKGROUND: Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks syndrome (TBS), a rare genetic disorder that is characterized by an imperforate anus, dysplastic ears, thumb malformations and other …
BACKGROUND: Previous studies have revealed that mutations of Spalt Like Transcription Factor 1 (SALL1) are responsible for Townes-Brocks …
Anthropometry for syndromology.
Lakshminarayana P, Janardhan K, David HS. Lakshminarayana P, et al. Indian J Pediatr. 1991 Mar-Apr;58(2):253-8. doi: 10.1007/BF02751131. Indian J Pediatr. 1991. PMID: 1879907
In diagnosing certain syndromes, abnormal facial features such as hypertelorism, low set ears or wide nasolabial distance are taken into consideration. ...The parameters studied were the inner and outer canthal distances, from which interpupillary distance was calcu …
In diagnosing certain syndromes, abnormal facial features such as hypertelorism, low set ears or wide nasolabial distance are …
Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.
Amirhassankhani S, Lloyd MS. Amirhassankhani S, et al. J Craniofac Surg. 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. J Craniofac Surg. 2018. PMID: 29239919 Review.
Accessory auricles are rare congenital abnormalities embryologically derived from the first branchial arch. ...This study reviewed the papers between 1981 and 2017. Findings included an association with syndromes including Goldenhar, VACTERL, Treacher-Collins …
Accessory auricles are rare congenital abnormalities embryologically derived from the first branchial arch. ...This study revi …
79 results