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

Year Number of Results
1988 1
1992 3
1994 1
1997 1
2002 1
2003 2
2005 3
2006 2
2007 1
2008 1
2013 1
2015 1
2018 2
2021 1
2023 1
2024 0

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Page 1
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and uplifted ea …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, fr …
Ignored Papers, Invented Quotations: A History of Fetal Alcohol Syndrome.
Obladen M. Obladen M. Neonatology. 2021;118(6):647-653. doi: 10.1159/000518534. Epub 2021 Sep 14. Neonatology. 2021. PMID: 34535605 Free article. Review.
[Ouest Medical. 1968;21:476-482] in 1968 as consisting of 4 features: (A) facial anomalies (narrow forehead, retracted upper lip, and cupped ears), (B) severe growth retardation (prenatal and postnatal), (C) malformations (limbs, cardiac, and visceral), and (D) cent …
[Ouest Medical. 1968;21:476-482] in 1968 as consisting of 4 features: (A) facial anomalies (narrow forehead, retracted upper l …
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.
The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features characteristic of PWS include a narrow forehead, a broad nasal bridge, slightly up slanting almond-shaped palpebral fissures, a …
The abnormal body composition resembles children seen with growth hormone deficiency (Carrel & Allen, 2001) . The dysmorphic features ch …
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Van Buggenhout G, Fryns JP. Van Buggenhout G, et al. Orphanet J Rare Dis. 2006 Jul 10;1:26. doi: 10.1186/1750-1172-1-26. Orphanet J Rare Dis. 2006. PMID: 16831221 Free PMC article. Review.
The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypoplasia, small mandible and prominent forehead), tall marfanoid stature and long slender extremities, and behavioural problems. ...
The syndrome is associated with mild to moderate mental retardation, distinct facial dysmorphism (long narrow face, maxillary hypopla …
Contiguous gene deletion of chromosome 2p16.3-p21 as a cause of Lynch syndrome.
Salo-Mullen EE, Lynn PB, Wang L, Walsh M, Gopalan A, Shia J, Tran C, Man FY, McBride S, Schattner M, Zhang L, Weiser MR, Stadler ZK. Salo-Mullen EE, et al. Fam Cancer. 2018 Jan;17(1):71-77. doi: 10.1007/s10689-017-0006-x. Fam Cancer. 2018. PMID: 28555354 Free PMC article. Review.
Family history was unrevealing. Physical exam revealed short stature, brachycephaly with a narrow forehead and short philtrum, brachydactyly of the hands, palmar transverse crease, broad and small feet with hyperpigmentation of the soles. ...
Family history was unrevealing. Physical exam revealed short stature, brachycephaly with a narrow forehead and short philtrum, …
Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.
Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Lin AE, et al. Am J Med Genet A. 2013 Nov;161A(11):2762-76. doi: 10.1002/ajmg.a.36265. Epub 2013 Oct 3. Am J Med Genet A. 2013. PMID: 24123776 Review.
We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies. Our analyses showed that the high anterior hairline, forehead bossing and dolichocephaly (accompanied by sagittal craniosynostosis in more than half of the …
We compared Sensenbrenner syndrome to asphyxiating thoracic dystrophy-Jeune syndrome (ATD-JS) and other ciliopathies. Our analyses showed th …
Natural history of mosaic trisomy 14 syndrome.
Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Fujimoto A, et al. Am J Med Genet. 1992 Sep 15;44(2):189-96. doi: 10.1002/ajmg.1320440214. Am J Med Genet. 1992. PMID: 1456290 Review.
Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomotor retardation (10/10), broad nose (13/14), "dysplastic" and/or apparently low-set ears (15/15), micrognathia (15/15), short neck (11/12), c …
Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomot …
De novo 1q32q44 duplication and distal 1q trisomy syndrome.
Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J. Nowaczyk MJ, et al. Am J Med Genet A. 2003 Jul 15;120A(2):229-33. doi: 10.1002/ajmg.a.20028. Am J Med Genet A. 2003. PMID: 12833404 Review.
The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and downward-slanting palpebral fissures, a high-arched and narrow palate, malformed ears, and long feet with overriding second and third …
The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and d …
Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature.
Lorenzo M, Stolte-Dijkstra I, van Rheenen P, Smith RG, Scheers T, Walia JS. Lorenzo M, et al. Am J Med Genet A. 2018 Jun;176(6):1455-1462. doi: 10.1002/ajmg.a.38667. Epub 2018 Apr 25. Am J Med Genet A. 2018. PMID: 29693785 Review.
Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, cafe-au-lait spots, macroglossia, thick vermilion of the upper and lower lips, and prognathism. ...
Patient 1, 19-years-old, has long ears, deeply set eyes with keratoconus, strabismus, a narrow forehead, anteverted nares, caf …
Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.
Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RC. Oudesluijs GG, et al. Am J Med Genet A. 2005 Aug 15;137(1):77-80. doi: 10.1002/ajmg.a.30863. Am J Med Genet A. 2005. PMID: 16007632 Review.
Here we report on a 2-year-old boy with similar manifestations: axial hypotonia in the first few months, prolonged feeding problems, moderate developmental delay, no speech development, deep palmar and plantar grooves, fat pads at the anteromedial aspect of the heels, and a disti …
Here we report on a 2-year-old boy with similar manifestations: axial hypotonia in the first few months, prolonged feeding problems, moderat …
22 results