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

Year Number of Results
1990 1
1992 1
1993 1
1996 1
1997 1
1998 1
2001 1
2006 1
2013 1
2016 1
2017 1
2018 1
2019 1
2020 1
2024 0

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13 results

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Page 1
Treacher Collins Syndrome.
Aljerian A, Gilardino MS. Aljerian A, et al. Clin Plast Surg. 2019 Apr;46(2):197-205. doi: 10.1016/j.cps.2018.11.005. Epub 2019 Jan 30. Clin Plast Surg. 2019. PMID: 30851751 Review.
Deformation of facial structures produces a characteristic appearance that includes malar hypoplasia, periorbital soft tissue anomalies, maxillomandibular hypoplasia, and ear anomalies. ...
Deformation of facial structures produces a characteristic appearance that includes malar hypoplasia, periorbital soft tissue …
Spliceosomopathies and neurocristopathies: Two sides of the same coin?
Beauchamp MC, Alam SS, Kumar S, Jerome-Majewska LA. Beauchamp MC, et al. Dev Dyn. 2020 Aug;249(8):924-945. doi: 10.1002/dvdy.183. Epub 2020 May 21. Dev Dyn. 2020. PMID: 32315467 Free article. Review.
Mutations in core components of the spliceosome are responsible for a group of syndromes collectively known as spliceosomopathies. Patients exhibit microcephaly, micrognathia, malar hypoplasia, external ear anomalies, eye anomalies, psychomotor delay, intellectual d …
Mutations in core components of the spliceosome are responsible for a group of syndromes collectively known as spliceosomopathies. Patients …
[The research progress of Treacher Collins syndrome].
Wang P, Fan X, Fan Y. Wang P, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Feb;30(4):333-8. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016. PMID: 27373049 Review. Chinese.
TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia, mandibular hypoplasia and microtia. TCS management is a multidisciplinary affair, as interventions range from reconstructive to psycho …
TCS has a variable phenotype with typical clinical characteristics including downward-slant of palpebral fissure, malar hypoplasia
Lateral meningocele syndrome: three new patients and review of the literature.
Gripp KW, Scott CI Jr, Hughes HE, Wallerstein R, Nicholson L, States L, Bason LD, Kaplan P, Zderic SA, Duhaime AC, Miller F, Magnusson MR, Zackai EH. Gripp KW, et al. Am J Med Genet. 1997 Jun 13;70(3):229-39. Am J Med Genet. 1997. PMID: 9188658 Review.
Other shared findings include multiple lateral meningoceles, Wormian bones, malar hypoplasia, downslanted palpebral fissures, a high narrow palate, and cryptorchidism in males. ...
Other shared findings include multiple lateral meningoceles, Wormian bones, malar hypoplasia, downslanted palpebral fissures, …
Pseudoaminopterin syndrome.
Verloes A, Bricteux G, Koulischer L. Verloes A, et al. Am J Med Genet. 1993 Jun 1;46(4):394-7. doi: 10.1002/ajmg.1320460410. Am J Med Genet. 1993. PMID: 8357010 Review.
We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high-arched palate, micrognathia, thick, abnormal auri …
We report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, po …
Marfan syndrome: a review of the literature and case report.
Tsang AK, Taverne A, Holcombe T. Tsang AK, et al. Spec Care Dentist. 2013 Sep-Oct;33(5):248-54. doi: 10.1111/scd.12018. Epub 2013 Feb 28. Spec Care Dentist. 2013. PMID: 23980558 Review.
Orofacially, MFS patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, mandibular retrognathia, malar hypoplasia, high arched palate, dental crowding, and root anomalies. ...
Orofacially, MFS patients typically exhibit skeletal class II malocclusion, dolichofacial growth pattern, mandibular retrognathia, malar
Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review.
Spineli-Silva S, Bispo LM, Gil-da-Silva-Lopes VL, Vieira TP. Spineli-Silva S, et al. Eur J Med Genet. 2018 May;61(5):262-268. doi: 10.1016/j.ejmg.2017.12.013. Epub 2017 Dec 27. Eur J Med Genet. 2018. PMID: 29288792 Free article. Review.
The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis. ...
The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, malar hypoplasia, cleft lip an …
Nager acrofacial dysostosis: management of a difficult airway.
Friedman RA, Wood E, Pransky SM, Seid AB, Kearns DB. Friedman RA, et al. Int J Pediatr Otorhinolaryngol. 1996 Mar;35(1):69-72. doi: 10.1016/0165-5876(95)01304-0. Int J Pediatr Otorhinolaryngol. 1996. PMID: 8882111 Review.
The facial features include downward slanting palpebral fissures, absent eyelashes in the medial third of the lower lids, mandibular and malar hypoplasia, dysplastic ears with conductive deafness, and variable degrees of palatal clefting. ...
The facial features include downward slanting palpebral fissures, absent eyelashes in the medial third of the lower lids, mandibular and …
Short stature with normal growth hormone and elevated IGF-I.
Momoi T, Yamanaka C, Kobayashi M, Haruta T, Sasaki H, Yorifuji T, Kaji M, Mikawa H. Momoi T, et al. Eur J Pediatr. 1992 May;151(5):321-5. doi: 10.1007/BF02113248. Eur J Pediatr. 1992. PMID: 1396882 Review.
We report on a Japanese girl with short stature, malar hypoplasia, up-slanting palpebral fissures, blue sclerae and thin, stiff and slightly brownish hair. ...
We report on a Japanese girl with short stature, malar hypoplasia, up-slanting palpebral fissures, blue sclerae and thin, stif …
Wiedemann-Rautenstrauch syndrome. A case report and review of the literature.
Stoll C, Labay F, Geisert J, Alembik Y. Stoll C, et al. Genet Couns. 1998;9(2):119-24. Genet Couns. 1998. PMID: 9664208 Review.
During infancy a progeroid appearance was noted with sparse hair, prominent scalp veins, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. The face was triangular with a small maxilla and a protuding chin, the eyes were low-set, th …
During infancy a progeroid appearance was noted with sparse hair, prominent scalp veins, greatly widened anterior fontanelles, malar
13 results