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

Year Number of Results
1979 1
1988 1
1990 1
1991 1
1994 1
1995 2
1997 5
1998 1
1999 3
2000 3
2001 1
2002 1
2003 1
2004 3
2005 3
2007 1
2008 2
2009 1
2010 1
2011 1
2012 3
2013 2
2014 1
2015 1
2016 1
2017 1
2022 1
2024 0

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42 results

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Page 1
Raine syndrome: an overview.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B. Faundes V, et al. Eur J Med Genet. 2014 Sep;57(9):536-42. doi: 10.1016/j.ejmg.2014.07.001. Epub 2014 Jul 12. Eur J Med Genet. 2014. PMID: 25019372 Review.
The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed nasal bridge and short nose. The main radiological manifestation is a diffuse, marked osteosclerosis of the base of …
The skeletal dysplasia predominantly affects craniofacial development explaining the severe proptosis, underdeveloped midface, depressed …
Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Magoulas PL, et al. Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Orphanet J Rare Dis. 2012. PMID: 22216833 Free PMC article. Review.
It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed n …
It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hair …
Orofacial manifestations in patients with sickle cell disease.
Javed F, Correa FO, Nooh N, Almas K, Romanos GE, Al-Hezaimi K. Javed F, et al. Am J Med Sci. 2013 Mar;345(3):234-7. doi: 10.1097/MAJ.0b013e318265b146. Am J Med Sci. 2013. PMID: 22990048 Review.
RESULTS: Hypoxia has been associated with osteomyelitis of the jaws, particularly the mandible in patients with SCD. Bone marrow hyperplasia in these patients causes depression of nasal bridge, midfacial overgrowth and malocclusion. Mental nerve neuropathy du …
RESULTS: Hypoxia has been associated with osteomyelitis of the jaws, particularly the mandible in patients with SCD. Bone marrow hyperplasia …
Chromosome 2q37 deletion: clinical and molecular aspects.
Falk RE, Casas KA. Falk RE, et al. Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):357-71. doi: 10.1002/ajmg.c.30153. Am J Med Genet C Semin Med Genet. 2007. PMID: 17910077 Review.
The stereotypic facial characteristics include prominent forehead, thin, highly arched eyebrows, depressed nasal bridge, full cheeks, deficient nasal alae and prominent columella, thin upper lip, and various minor anomalies of the pinnae. ...
The stereotypic facial characteristics include prominent forehead, thin, highly arched eyebrows, depressed nasal bridge …
Clinical and Molecular genetics of Stickler syndrome.
Snead MP, Yates JR. Snead MP, et al. J Med Genet. 1999 May;36(5):353-9. J Med Genet. 1999. PMID: 10353778 Free PMC article. Review.
Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. ...Children with Stickler syndrome typically have a flat midface with depressed nasal bridge, short nose, a …
Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthri …
Importance of muscle movement for normal craniofacial development.
Hall JG. Hall JG. J Craniofac Surg. 2010 Sep;21(5):1336-8. doi: 10.1097/SCS.0b013e3181ebcd4f. J Craniofac Surg. 2010. PMID: 20818259 Review.
Lack of craniofacial muscle contractions may lead to ocular hypertelorism, flat zygoma and midface, high bridge of the nose, depressed tip of the nose, small and open mouth, trismus, microretrognathia, small tongue, and abnormal palate (high arch, bifi …
Lack of craniofacial muscle contractions may lead to ocular hypertelorism, flat zygoma and midface, high bridge of the nose, …
Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.
Hershkovitz E, Parvari R, Diaz GA, Gorodischer R. Hershkovitz E, et al. J Pediatr Endocrinol Metab. 2004 Dec;17(12):1583-90. doi: 10.1515/jpem.2004.17.12.1583. J Pediatr Endocrinol Metab. 2004. PMID: 15645691 Review.
The main dysmorphic features are microcephaly, deep-set eyes or microphthalmia, ear abnormalities, depressed nasal bridge, thin upper lip, hooked small nose, micrognathia, and small hands and feet. ...
The main dysmorphic features are microcephaly, deep-set eyes or microphthalmia, ear abnormalities, depressed nasal bridge …
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B. Torgyekes E, et al. Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744488 Review.
Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing of the eyes, epicanthal folds, sloping forehead, low-set ears, rounded eyebrows with triangular media aspect and outer tapering, depressed …
Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing o …
Central nervous system abnormalities and psychomotor retardation in a girl with a 15.4-MB deletion of 14q12→q21.2 and a 550-KB deletion of 18p11.23: microarray delineation of an unbalanced chromosome rearrangement and a literature review.
Torun D, Arslan M, Akar H, Karaer K, Ünay B, Tunca Y. Torun D, et al. Genet Couns. 2016;27(2):165-76. Genet Couns. 2016. PMID: 29485807 Review.
The patient had developmental delay, truncal hypotonia, hyperreflexia and spasticity of the lower extremities, prominent forehead, fullness of the periorbital region, hypertelorism, upslanted palpebral fissures, systagmus, a depressed nasal bridge, down-turne …
The patient had developmental delay, truncal hypotonia, hyperreflexia and spasticity of the lower extremities, prominent forehead, fullness …
Neonatal manifestation of multiple sulfatase deficiency.
Busche A, Hennermann JB, Bürger F, Proquitté H, Dierks T, von Arnim-Baas A, Horn D. Busche A, et al. Eur J Pediatr. 2009 Aug;168(8):969-73. doi: 10.1007/s00431-008-0871-2. Epub 2008 Dec 10. Eur J Pediatr. 2009. PMID: 19066960 Review.
She presented with primary microcephaly, facial anomalies including depressed nasal bridge, nasal hypoplasia, anteverted nostrils, smooth philtrum, limited mobility of hip and knee joints, mild ichthyosis, as well as muscular hypotonia. ...
She presented with primary microcephaly, facial anomalies including depressed nasal bridge, nasal hypoplasia, an …
42 results