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Page 1
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nas …
The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial …
Fronto-facio-nasal dysplasia.
Suthers G, David D, Clark B. Suthers G, et al. Clin Dysmorphol. 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. Clin Dysmorphol. 1997. PMID: 9220195 Review.
The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects of the alae nasi and blepharophimosis, lagophthalmos, and S-shaped palpebral fissures. ...
The syndrome is characterized by paramedian facial clefts which involve the nose and palpebral fissures resulting in defects o …
Anticipatory guidance for parents of Prader-Willi children.
Nolan ME. Nolan ME. Pediatr Nurs. 2003 Nov-Dec;29(6):427-30, 451. Pediatr Nurs. 2003. PMID: 14743837 Review.
It is characterized by hypotonia, short stature, hypogonadism, mental retardation, behavioral problems, and hyperphagia, which result in excessive obesity (Lindgren et al., 2000). The abnormal body composition resembles children seen with growth hormone deficiency (Carrel …
It is characterized by hypotonia, short stature, hypogonadism, mental retardation, behavioral problems, and hyperphagia, which result in exc …
Jacobsen syndrome without thrombocytopenia: a case report and review of the literature.
Nalbantoğlu B, Donma MM, Nişli K, Paketçi C, Karasu E, Ozdilek B, Mintaş NE. Nalbantoğlu B, et al. Turk J Pediatr. 2013 Mar-Apr;55(2):203-6. Turk J Pediatr. 2013. PMID: 24192682 Review.
Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward slanting palpebral fissures, and a carp-shaped mouth. The patient also had strabismus. ...A review of published reports shows that the severity of the observe …
Facial anomalies included trigonocephaly with bulging forehead, hypertelorism, telecanthus, downward slanting palpebral fissures
The fetal phenotype of the 18p-syndrome. Report of a male fetus at twenty-one weeks.
Göcke H, Muradow I, Stein W. Göcke H, et al. Ann Genet. 1988;31(1):60-4. Ann Genet. 1988. PMID: 3281573 Review.
The fetus displayed dysmorphic features resembling the 18p-syndrome, such as decreased head circumference, slightly receding forehead, hypertelorism, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated max …
The fetus displayed dysmorphic features resembling the 18p-syndrome, such as decreased head circumference, slightly receding forehead, hyper …
1q21.3 deletion involving GATAD2B: An emerging recurrent microdeletion syndrome.
Tim-Aroon T, Jinawath N, Thammachote W, Sinpitak P, Limrungsikul A, Khongkhatithum C, Wattanasirichaigoon D. Tim-Aroon T, et al. Am J Med Genet A. 2017 Mar;173(3):766-770. doi: 10.1002/ajmg.a.38082. Am J Med Genet A. 2017. PMID: 28211977 Review.
We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral fissures, telecanthus, sparse hair and eyebrow, cup-shaped ears, and clinodactyly. ...
We herein report an infant with feeding difficulty, developmental delay, hypotonia, and dysmorphic features including small palpebral
The Down syndrome patient in dental practice, part I: Pathogenesis and general and dental features.
Kieser J, Townsend G, Quick A. Kieser J, et al. N Z Dent J. 2003 Mar;99(1):5-9. N Z Dent J. 2003. PMID: 15330383 Review.
Uncommon causes are mosaicism or translocation from other chromosomes. DS patients suffer from congenital cardiopathies, growth retardation, endocrinopathies, sleep apnoea, neoplasias and early-onset Alzheimer's disease. ...The universal characteristic of the DS face is th …
Uncommon causes are mosaicism or translocation from other chromosomes. DS patients suffer from congenital cardiopathies, growth retar …
A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.
Aypar E, Yildirim MS, Sert A, Ciftci I, Odabas D. Aypar E, et al. Am J Med Genet A. 2011 Mar;155A(3):638-41. doi: 10.1002/ajmg.a.33839. Epub 2011 Feb 22. Am J Med Genet A. 2011. PMID: 21344634 Review.
Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the frontal suture. It results in a V-shaped abnormality at the front of the skull. MS may occur in a syndromic or nonsyndromic form. We report on a 24-day-old girl with hypotonia, M …
Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the frontal suture. It results in a V-shaped a
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.
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. ...Facial features were remarkable by nasal deformity with creased ridge an …
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, na …
[Surgical treatment for incomplete Tessier No.3 craniofacial cleft: report of three cases and review of literature].
An JG, Ma L, Zhou ZB, Wang Z. An JG, et al. Zhonghua Kou Qiang Yi Xue Za Zhi. 2012 Mar;47(3):164-8. doi: 10.3760/cma.j.issn.1002-0098.2012.03.009. Zhonghua Kou Qiang Yi Xue Za Zhi. 2012. PMID: 22800670 Review. Chinese.
The facial scar was not obvious 6 - 10 months after operation. The shape of medial canthal angle was acceptable, and the height of the medial canthal angle and the length of the palpebral fissure of both sides were symmetrical. ...
The facial scar was not obvious 6 - 10 months after operation. The shape of medial canthal angle was acceptable, and the height of th …
14 results