Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1969 1
1971 1
1972 2
1974 1
1975 2
1976 3
1977 4
1978 3
1979 2
1980 5
1981 2
1982 1
1983 2
1984 4
1985 3
1986 1
1987 2
1988 7
1989 4
1990 6
1991 4
1992 1
1993 12
1994 8
1995 17
1996 14
1997 16
1998 20
1999 13
2000 9
2001 14
2002 25
2003 17
2004 14
2005 26
2006 23
2007 18
2008 24
2009 27
2010 29
2011 28
2012 23
2013 21
2014 40
2015 29
2016 24
2017 23
2018 32
2019 27
2020 19
2021 17
2022 19
2023 10
2024 7

Text availability

Article attribute

Article type

Publication date

Search Results

640 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Cleft palate-short stature-vertebral anomalies syndrome"
Page 1
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC. Loeys BL, et al. N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. N Engl J Med. 2006. PMID: 16928994 Free article.
BACKGROUND: The Loeys-Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread systemic involvement. ...Forty probands presented with typical manifestations of the Loeys-Dietz syndrome. In view of the phenotypic overl …
BACKGROUND: The Loeys-Dietz syndrome is a recently described autosomal dominant aortic-aneurysm syndrome with widespread syste …
Yunis-Varon Syndrome.
Siddique AW, Ahmed Z, Haider A, Khalid H, Karim T. Siddique AW, et al. J Ayub Med Coll Abbottabad. 2019 Apr-Jun;31(2):290-292. J Ayub Med Coll Abbottabad. 2019. PMID: 31094135 Free article.
Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. We report a neonate born to consanguineously married normal parents with typical clinical and radiologic features of Yunis-Varon syndrome along …
Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. We report …
Acro-cardio-facial syndrome.
Digilio MC, Dallapiccola B. Digilio MC, et al. Orphanet J Rare Dis. 2010 Sep 29;5:25. doi: 10.1186/1750-1172-5-25. Orphanet J Rare Dis. 2010. PMID: 20920258 Free PMC article. Review.
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. ...The differential …
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial a …
Peter's anomaly-A homeotic gene disorder.
Kylat RI. Kylat RI. Acta Paediatr. 2022 May;111(5):948-951. doi: 10.1111/apa.16260. Epub 2022 Jan 31. Acta Paediatr. 2022. PMID: 35044009 Review.
Peter's anomaly is a rare form of congenital anterior segment dysgenesis of the eye. Varying degrees of central corneal opacity and lenticulo-corneal or irido-corneal synechiae are the key hallmarks. The association of Peter's anomaly along with short stature, rhizo …
Peter's anomaly is a rare form of congenital anterior segment dysgenesis of the eye. Varying degrees of central corneal opacity and l …
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN. Leboulanger N, et al. Orphanet J Rare Dis. 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. Orphanet J Rare Dis. 2011. PMID: 22151899 Free PMC article. Review.
The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. ...Prenatal diagnosis of LC has never been reported, although associated anomalies may be detect …
The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER asso …
Cleft Lip and Palate in Ectodermal Dysplasia.
Ganske IM, Irwin T, Langa O, Upton J 3rd, Tan WH, Mulliken JB. Ganske IM, et al. Cleft Palate Craniofac J. 2021 Feb;58(2):237-243. doi: 10.1177/1055665620949124. Epub 2020 Aug 30. Cleft Palate Craniofac J. 2021. PMID: 32864997
OBJECTIVE: Ectodermal dysplasia (ED) comprises multiple syndromes that affect skin, hair, nails, and teeth, and sometimes are associated with orofacial clefting. ...Anatomic categories were bilateral CL/P (67%), unilateral CL/P (8%), and cleft palate only (25 …
OBJECTIVE: Ectodermal dysplasia (ED) comprises multiple syndromes that affect skin, hair, nails, and teeth, and sometimes are associa …
Laryngeal cleft: evaluation and management.
Johnston DR, Watters K, Ferrari LR, Rahbar R. Johnston DR, et al. Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):905-11. doi: 10.1016/j.ijporl.2014.03.015. Epub 2014 Mar 27. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24735606 Review.
Clefts of the larynx and trachea/esophagus can occur in isolation, as part of a syndrome (Opitz-Frias, VATER/VACTERL, Pallister Hall, CHARGE), or with other associated malformations (gastrointestinal, genitourinary, cardiac, craniofacial). This publication reviews t …
Clefts of the larynx and trachea/esophagus can occur in isolation, as part of a syndrome (Opitz-Frias, VATER/VACTERL, Palliste …
Second branchial cleft anomalies in children: a literature review.
Shen LF, Zhou SH, Chen QQ, Yu Q. Shen LF, et al. Pediatr Surg Int. 2018 Dec;34(12):1251-1256. doi: 10.1007/s00383-018-4348-8. Epub 2018 Sep 24. Pediatr Surg Int. 2018. PMID: 30251021 Review.
Complete excision is essential for good prognosis. For the management of branchial cleft anomalies, various methods have been reported. ...The following sections discuss the anatomy, common presentation, auxiliary examination, differential diagnosis, the curr …
Complete excision is essential for good prognosis. For the management of branchial cleft anomalies, various methods hav …
PHACE syndrome: Infantile hemangiomas associated with multiple congenital anomalies: Clues to the cause.
Siegel DH. Siegel DH. Am J Med Genet C Semin Med Genet. 2018 Dec;178(4):407-413. doi: 10.1002/ajmg.c.31659. Am J Med Genet C Semin Med Genet. 2018. PMID: 30580483 Review.
The genetic mechanisms underlying IH and the related multi-organ birth defect syndromes, PHACE (an acronym for Posterior fossa brain malformations, segmental facial Hemangiomas, Arterial anomalies, Cardiac defects, Eye anomalies, and sternal clefting o …
The genetic mechanisms underlying IH and the related multi-organ birth defect syndromes, PHACE (an acronym for Posterior fossa brain …
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis).
Agochukwu NB, Solomon BD, Doherty ES, Muenke M. Agochukwu NB, et al. J Craniofac Surg. 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb. J Craniofac Surg. 2012. PMID: 22565872 Free PMC article. Review.
Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies including high-arched palate, cleft lip with or without cleft palate has not been documented in a patient series of Muenk …
Although Muenke syndrome is the most common syndromic form of craniosynostosis, the frequency of oral and palatal anomalies …
640 results