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Page 1
Anatomy and Aging of the Perioral Region.
Morera Serna E, Serna Benbassat M, Terré Falcón R, Murillo Martín J. Morera Serna E, et al. Facial Plast Surg. 2021 Apr;37(2):176-193. doi: 10.1055/s-0041-1725104. Epub 2021 Apr 12. Facial Plast Surg. 2021. PMID: 33845492 Review.
Fine wrinkling on the lips, deep nasolabial and mentolabial folds, elongation and flattening of the upper lip, downturned corners of the mouth, marionette lines, diminished vermillion and upper teeth show and chin irregularities are the main signs of this pro …
Fine wrinkling on the lips, deep nasolabial and mentolabial folds, elongation and flattening of the upper lip, downturned corners
Prader-Willi Syndrome: A spectrum of anatomical and clinical features.
Hurren BJ, Flack NA. Hurren BJ, et al. Clin Anat. 2016 Jul;29(5):590-605. doi: 10.1002/ca.22686. Epub 2016 Jan 29. Clin Anat. 2016. PMID: 26749552 Review.
Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. ...
Characteristic facial features such as narrow bifrontal diameter, almond-shaped eyes, and small mouth (with downturned corn
Temple-Baraitser syndrome with KCNH1 Asn510Thr: a new case report.
Wang H, Zhang X, Ding H. Wang H, et al. Clin Dysmorphol. 2021 Jan;30(1):27-31. doi: 10.1097/MCD.0000000000000345. Clin Dysmorphol. 2021. PMID: 32956079 Review.
The patient exhibited a pattern of anomalies: mild dysmorphic facial features with a wide open mouth, a thick vermilion border of the upper lip and downturned corners of the mouth; nails were absent on both great toes and thumb. ...
The patient exhibited a pattern of anomalies: mild dysmorphic facial features with a wide open mouth, a thick vermilion border of the …
The chromosome 9q subtelomere deletion syndrome.
Stewart DR, Kleefstra T. Stewart DR, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):383-92. doi: 10.1002/ajmg.c.30148. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910072 Review.
The facial gestalt is distinct and features absolute or relative micro- or brachycephaly, hypertelorism, synophrys, and/or arched eyebrows, mid-face hypoplasia, a short nose with upturned nares, a protruding tongue with everted lower lip and down-turned corners of the m
The facial gestalt is distinct and features absolute or relative micro- or brachycephaly, hypertelorism, synophrys, and/or arched eyebrows, …
Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D, Altunoglu U, Bruel AL, Arnaud E, Blanchet P, Choi JW, Désir J, Kiliç E, Lederer D, Pinson L, Thauvin-Robinet C, Singer A, Thevenon J, Callier P, Kayserili H, Faivre L. Lehalle D, et al. Am J Med Genet A. 2017 Dec;173(12):3136-3142. doi: 10.1002/ajmg.a.38490. Am J Med Genet A. 2017. PMID: 29136349 Review.
Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebral fissures, and downturned corners of the mouth. All had apparently normal psychomotor development. ...
Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebr …
Duplication 3q(q21----qter) without limb anomalies.
Ismail SR, Kousseff BG, Kotb SM, Kholeif SF. Ismail SR, et al. Am J Med Genet. 1991 Mar 15;38(4):518-22. doi: 10.1002/ajmg.1320380403. Am J Med Genet. 1991. PMID: 2063889 Review.
We report on a 2.5-month-old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. ...
We report on a 2.5-month-old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned co
De novo duplication (5)(q31.3q33.3): report of a patient and characterization of the duplicated region using microdissection and FISH.
Sanchez-Garcia JF, de Die-Smulders CE, Weber JW, Jetten AG, Loneus WH, Hamers AJ, Engelen JJ. Sanchez-Garcia JF, et al. Am J Med Genet. 2001 Apr 15;100(1):56-61. doi: 10.1002/1096-8628(20010415)100:1<56::aid-ajmg1207>3.0.co;2-s. Am J Med Genet. 2001. PMID: 11337750 Review.
We report on a 2-year-old boy presenting with growth and psychomotor retardation and facial anomalies, including a flat face with prominent forehead, a flat nasal bridge and flat occiput, unusually long curved eyelashes, and a thin upper lip with down-turned corners of the …
We report on a 2-year-old boy presenting with growth and psychomotor retardation and facial anomalies, including a flat face with prominent …
Unique occurrence of Brachmann-de Lange syndrome in a fetus whose mother presented with a diffuse large B-cell lymphoma.
Schiffer C, Schiesser M, Lehr J, Tariverdian G, Glaeser D, Gabriel H, Mikuz G, Sergi C. Schiffer C, et al. Pathol Oncol Res. 2007;13(3):255-9. doi: 10.1007/BF02893507. Epub 2007 Oct 7. Pathol Oncol Res. 2007. PMID: 17922056 Free article. Review.
Brachmann-De Lange Syndrome (BDLS, MIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by a variable phenotype including intrauterine fetal growth retardation, limb reduction and distinctive facial and skull features (low frontal hairline, …
Brachmann-De Lange Syndrome (BDLS, MIM 122470) is a rare multiple congenital anomaly/mental retardation syndrome characterized by a variable …
A patient with partial duplication 2q and partial deficiency 11q.
Ho CK, Henderson KC, Bowyer FP, Eilers KB, Andrews LG. Ho CK, et al. Am J Med Genet. 1987 Nov;28(3):575-9. doi: 10.1002/ajmg.1320280305. Am J Med Genet. 1987. PMID: 3322008 Review.
He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed n …
He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing …