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1981 1
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1995 4
1997 2
1998 1
1999 1
2000 3
2001 2
2002 4
2004 3
2005 2
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Page 1
KBG syndrome.
Morel Swols D, Foster J 2nd, Tekin M. Morel Swols D, et al. Orphanet J Rare Dis. 2017 Dec 19;12(1):183. doi: 10.1186/s13023-017-0736-8. Orphanet J Rare Dis. 2017. PMID: 29258554 Free PMC article. Review.
CLINICAL DESCRIPTION: KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed b …
CLINICAL DESCRIPTION: KBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as tria …
Monosomy 1p36.
Slavotinek A, Shaffer LG, Shapira SK. Slavotinek A, et al. J Med Genet. 1999 Sep;36(9):657-63. J Med Genet. 1999. PMID: 10507720 Free PMC article. Review.
Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually severe), growth abnormalities (growth retardation, microcephaly, obesity), and craniofacial dysmorphism with a large anterior fontanelle, prominent forehead, …
Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually severe), growth abnormali …
Alpha-mannosidosis.
Malm D, Nilssen Ø. Malm D, et al. Orphanet J Rare Dis. 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. Orphanet J Rare Dis. 2008. PMID: 18651971 Free PMC article. Review.
The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, and prognathism. ...
The facial trait include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, wi …
Teratogen update: methotrexate.
Hyoun SC, Običan SG, Scialli AR. Hyoun SC, et al. Birth Defects Res A Clin Mol Teratol. 2012 Apr;94(4):187-207. doi: 10.1002/bdra.23003. Epub 2012 Mar 20. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22434686 Review.
Based on human case reports of methotrexate exposure during pregnancy, a methotrexate embryopathy has been described that includes growth deficiency, microcephaly, hypoplasia of skull bones, wide fontanels, coronal or lambdoidal craniosynostosis, upswept frontal scalp hair, broad …
Based on human case reports of methotrexate exposure during pregnancy, a methotrexate embryopathy has been described that includes growth de …
Uremic Leontiasis Ossea: Theoretical Concepts and Practical Considerations.
Sabanis N, Paschou E, Drylli A, Papanikolaou P, Zagkotsis G. Sabanis N, et al. Saudi J Kidney Dis Transpl. 2022 Sep 1;33(5):702-715. doi: 10.4103/1319-2442.389430. Epub 2023 Nov 7. Saudi J Kidney Dis Transpl. 2022. PMID: 37955462 Free article. Review.
Leontiasis ossea (LO) in chronic kidney disease patients, also known as Sagliker syndrome, is an exceptionally uncommon uremic complication of long-lasting and severe secondary hyperparathyroidism. The prominent features of uremic LO (ULO) encompass the characteristic clin …
Leontiasis ossea (LO) in chronic kidney disease patients, also known as Sagliker syndrome, is an exceptionally uncommon uremic complication …
Saethre-Chotzen syndrome: Case report and literature review.
Pelc A, Mikulewicz M. Pelc A, et al. Dent Med Probl. 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. Dent Med Probl. 2018. PMID: 30152628 Free article. Review.
The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline, prominent ear crus, prominent nasal bridge, eyelid ptosis, and ocular hypertelorism. Less common symptoms incl …
The most common features of SCS described in the literature are synostosis of the coronal suture, syndactyly, facial asymmetry, low hairline …
Otolaryngologic manifestations of Down syndrome.
Kanamori G, Witter M, Brown J, Williams-Smith L. Kanamori G, et al. Otolaryngol Clin North Am. 2000 Dec;33(6):1285-92. doi: 10.1016/s0030-6665(05)70281-4. Otolaryngol Clin North Am. 2000. PMID: 11449787 Review.
These anomalies include a flat occiput, oblique palpebral fissures, epicanthal folds, speckled irides, a protruding tongue, prominent malformed ears, and a flat nasal bridge. Congenital otologic anomalies and acquired conditions such as otitis media are also …
These anomalies include a flat occiput, oblique palpebral fissures, epicanthal folds, speckled irides, a protruding tongue, prominent
Coffin-Lowry syndrome: clinical and molecular features.
Hanauer A, Young ID. Hanauer A, et al. J Med Genet. 2002 Oct;39(10):705-13. doi: 10.1136/jmg.39.10.705. J Med Genet. 2002. PMID: 12362025 Free PMC article. Review.
The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. ...
The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpe …
A very rare case of a newborn with tetrasomy 9p and literature review.
Süleyman M, Oğuz S, Kaykı G, Çelik HT, Şimsek-Kiper PÖ, Utine GE, Yiğit Ş. Süleyman M, et al. Turk J Pediatr. 2022;64(1):171-178. doi: 10.24953/turkjped.2021.685. Turk J Pediatr. 2022. PMID: 35286047 Free article. Review.
She had facial features including low-set and anteverted ears, hypertelorism, prominent nasal bridge, and microretrognathia. Bilateral ventriculomegaly, vermian hypoplasia and corpus callosum agenesis were detected on magnetic resonance imaging and double out …
She had facial features including low-set and anteverted ears, hypertelorism, prominent nasal bridge, and microretrogna …
[Regulatory role and mechanism of primary cilia in craniofacial and dental development].
Sun Y. Sun Y. Zhonghua Kou Qiang Yi Xue Za Zhi. 2023 Aug 9;58(8):791-798. doi: 10.3760/cma.j.cn112144-20230503-00180. Zhonghua Kou Qiang Yi Xue Za Zhi. 2023. PMID: 37550039 Review. Chinese.
The most common cilia-related craniofacial defects include micrognathia, cleft lip, cleft palate, orbital hypertelorism/hypotelorism, flat nasal bridge, prominent forehead, craniosynostosis, and so on, suggesting that primary cilia plays an important role in …
The most common cilia-related craniofacial defects include micrognathia, cleft lip, cleft palate, orbital hypertelorism/hypotelorism, flat …
50 results