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1988 1
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2002 3
2004 4
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Page 1
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 telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree. Heterozygous females have telecanthus. We have summarised the historical and phenotypic findings of 21 patients in seven previous pub …
The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree. …
Syndromic lipomatosis of the head and neck: a review of the literature.
Tadisina KK, Mlynek KS, Hwang LK, Riazi H, Papay FA, Zins JE. Tadisina KK, et al. Aesthetic Plast Surg. 2015 Jun;39(3):440-8. doi: 10.1007/s00266-015-0478-8. Epub 2015 Apr 10. Aesthetic Plast Surg. 2015. PMID: 25860506 Review.
The most common complications were hematoma and seroma in MSL, recurrence in FML, neuropraxia in CIL-F, and mild telecanthus in NLCS. CONCLUSIONS: Syndromic causes of lipomatosis are generally benign in nature but difficult to control long term. ...
The most common complications were hematoma and seroma in MSL, recurrence in FML, neuropraxia in CIL-F, and mild telecanthus in NLCS. …
Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy.
Wilson GN, de Chadarévian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI. Wilson GN, et al. Am J Med Genet. 1989 Mar;32(3):395-401. doi: 10.1002/ajmg.1320320326. Am J Med Genet. 1989. PMID: 2658591 Review.
A common pattern of anomalies in patients with malformations (8/16) includes macrocephaly, large anterior fontanelle, high forehead, flat nasal bridge, telecanthus, and malformed ears. Abnormalities such as hypotonia, cerebral gliosis, heterotopias, hepatomegaly, hepatic p …
A common pattern of anomalies in patients with malformations (8/16) includes macrocephaly, large anterior fontanelle, high forehead, flat na …
Proboscis Lateralis With Choanal Atresia.
Gómez Prada DC, Restrepo Salamanca N, Sosa Castro OM. Gómez Prada DC, et al. J Craniofac Surg. 2024 Jan-Feb 01;35(1):211-214. doi: 10.1097/SCS.0000000000009869. Epub 2023 Nov 20. J Craniofac Surg. 2024. PMID: 37983369 Review.
The case of a female patient who was born with proboscis lateralis, choanal atresia, and telecanthus is submitted. A report is made on the initial management of this patient, the clinical follow-up that has been carried out so far, and a review of the literature is conduct …
The case of a female patient who was born with proboscis lateralis, choanal atresia, and telecanthus is submitted. A report is made o …
Secondary Correction of Midface Fractures.
Chodroff J, Elias N, Whitcomb M, Vo C, Bell RB. Chodroff J, et al. Atlas Oral Maxillofac Surg Clin North Am. 2021 Mar;29(1):139-150. doi: 10.1016/j.cxom.2020.11.008. Epub 2020 Dec 13. Atlas Oral Maxillofac Surg Clin North Am. 2021. PMID: 33516535 Review. No abstract available.
Eye Abnormalities in Children with Fetal Alcohol Spectrum Disorders: A Systematic Review.
Tsang TW, Finlay-Jones A, Perry K, Grigg JR, Popova S, Cheung MMY, Bower C, Tam P, Jamieson RV, Elliott EJ. Tsang TW, et al. Ophthalmic Epidemiol. 2023 Aug;30(4):340-351. doi: 10.1080/09286586.2022.2123004. Epub 2022 Sep 14. Ophthalmic Epidemiol. 2023. PMID: 36102703 Review.
Structural and functional eye abnormalities were identified, the most prevalent being short palpebral fissure length (66.1%), visual impairment (55.5%), epicanthus (53.5%), subnormal stereoacuity (53.0%), abnormal retinal tortuosity (50.5%), impaired fixation ability (33.3%), …
Structural and functional eye abnormalities were identified, the most prevalent being short palpebral fissure length (66.1%), visual impairm …
A critical appraisal of surgical outcomes following orbital hypertelorism correction: what is the incidence of true bony relapse versus soft tissue telecanthus?
Go BC, Shakir S, Swanson JW, Bartlett SP, Taylor JA. Go BC, et al. Childs Nerv Syst. 2021 Jan;37(1):21-32. doi: 10.1007/s00381-020-04890-2. Epub 2020 Sep 22. Childs Nerv Syst. 2021. PMID: 32964257 Review.
BACKGROUND: Orbital hypertelorism (OHT) represents a congenital condition defined by lateralization of the bony orbit, unlike soft tissue telecanthus in which there is an increase in intercanthal distance without true bony lateralization. ...Methods for long-term follow-up …
BACKGROUND: Orbital hypertelorism (OHT) represents a congenital condition defined by lateralization of the bony orbit, unlike soft tissue …
Nablus syndrome: Easy to diagnose yet difficult to solve.
Allanson J, Smith A, Forzano F, Lin AE, Raas-Rothschild A, Howley HE, Boycott KM. Allanson J, et al. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):447-457. doi: 10.1002/ajmg.c.31660. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580486 Review.
Nablus syndrome can be clinically diagnosed based on striking facial features, including tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. …
Nablus syndrome can be clinically diagnosed based on striking facial features, including tight glistening skin with reduced facial expressio …
[Naso-ethmoido-maxillary protrusion (NEMP): a specific dysmorphosis].
Konopnicki S, Nicot R, Sauvé C, Raoul G, Ferri J. Konopnicki S, et al. Rev Stomatol Chir Maxillofac Chir Orale. 2014 Apr;115(2):94-9. doi: 10.1016/j.revsto.2014.02.001. Epub 2014 Mar 12. Rev Stomatol Chir Maxillofac Chir Orale. 2014. PMID: 24630318 Review. French.
The clinical presentation includes nasal and upper lip protrusion, telecanthus, a class 2 malocclusion with maxillary protrusion and exoclusion. The craniofacial field is increased in Delaire's analysis. ...
The clinical presentation includes nasal and upper lip protrusion, telecanthus, a class 2 malocclusion with maxillary protrusion and …
Ocular genetic disease in the Middle East.
Khan AO. Khan AO. Curr Opin Ophthalmol. 2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374. Curr Opin Ophthalmol. 2013. PMID: 23846189 Review.
Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glaucoma, pediatric cataract, and retinal dystrophy/dysfunction), rare worldwide (such as cornea plana, brittle cornea syndrome, and posterior mi …
Studies from the region have enhanced our understanding of ocular genetic conditions that are more common worldwide (such as pediatric glauc …
41 results