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Aarskog syndrome: report of a family with review and discussion of nosology.
Teebi AS, Rucquoi JK, Meyn MS. Teebi AS, et al. Am J Med Genet. 1993 Jun 15;46(5):501-9. doi: 10.1002/ajmg.1320460508. Am J Med Genet. 1993. PMID: 8322809 Review.
Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Phenotypic variability is wide not only between mother and sons but also between sibs. ...
Five individuals in one family, including dizygotic male twins, a half brother and their mother, had Aarskog syndrome (AS). Ph …
Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.
Depeyre A, Schlund M, Gryseleyn R, Ferri J. Depeyre A, et al. J Oral Maxillofac Surg. 2018 Oct;76(10):2202-2208. doi: 10.1016/j.joms.2018.03.027. Epub 2018 Mar 29. J Oral Maxillofac Surg. 2018. PMID: 29689188 Review.
PURPOSE: Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by …
PURPOSE: Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. …
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A. Zanetti Drumond V, et al. Genet Res (Camb). 2021 Feb 2;2021:6652957. doi: 10.1155/2021/6652957. eCollection 2021. Genet Res (Camb). 2021. PMID: 33762894 Free PMC article. Review.
Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. ...
Aarskog-Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1
[Aarskog syndrome].
Matsuo M. Matsuo M. Ryoikibetsu Shokogun Shirizu. 2001;(33):83-4. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462708 Review. Japanese. No abstract available.
Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature.
Reddy P, Kharbanda OP, Kabra M, Duggal R. Reddy P, et al. J Clin Pediatr Dent. 1999 Winter;23(2):155-9. J Clin Pediatr Dent. 1999. PMID: 10204459 Review.
Aarskog syndrome is a rare syndrome with a typical triad of facial, digital and genital characteristics. ...
Aarskog syndrome is a rare syndrome with a typical triad of facial, digital and genital characteristics. ...
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC. Menezes AH, et al. Childs Nerv Syst. 2022 Feb;38(2):361-377. doi: 10.1007/s00381-021-05409-z. Epub 2021 Nov 22. Childs Nerv Syst. 2022. PMID: 34806157 Review.
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervica …
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome
Congenital heart defects in Aarskog syndrome.
Fernandez I, Tsukahara M, Mito H, Yoshii H, Uchida M, Matsuo K, Kajii T. Fernandez I, et al. Am J Med Genet. 1994 May 1;50(4):318-22. doi: 10.1002/ajmg.1320500404. Am J Med Genet. 1994. PMID: 8209909 Review.
We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal defect with spontaneous closure were detected respectively, in 2 of them as an uncommon finding. ...We propose that this combination is not …
We report on 10 Japanese individuals from 3 families affected with Aarskog syndrome. Pulmonary stenosis and ventricular septal …
Autosomal dominant inheritance of the Aarskog syndrome.
Grier RE, Farrington FH, Kendig R, Mamunes P. Grier RE, et al. Am J Med Genet. 1983 May;15(1):39-46. doi: 10.1002/ajmg.1320150105. Am J Med Genet. 1983. PMID: 6344635 Review.
Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum. Pedigrees have consistently suggested X-linked inheritance, although the possibility of autosomal dominant …
Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat …
[Aarskog syndrome. A case report].
Cincinnati P, Lombardi AM, Morelli M, Rutiloni C. Cincinnati P, et al. Minerva Pediatr. 1994 Sep;46(9):407-10. Minerva Pediatr. 1994. PMID: 7799889 Review. Italian.
A case of Aarskog syndrome in a 10-year-old boy born to an epileptic woman is reported. ...Finally the association between Aarskog syndrome and maternal epilepsy is discussed....
A case of Aarskog syndrome in a 10-year-old boy born to an epileptic woman is reported. ...Finally the association between …