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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 …
[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 cervical level disconnection …
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, o …
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 …
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 …
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