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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.
They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the character …
They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of …
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.
Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip, mild interdigital webbing with short and broad hands, short fifth finger with clinodactyly, and shawl scrotum. Secondary cri …
Primary criteria include: short stature, hypertelorism, short nose with anteverted nares, maxillary hypoplasia, a crease below the lower lip …
From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature.
Wiel LC, Bruno I, Barbi E, Sirchia F. Wiel LC, et al. Ital J Pediatr. 2022 May 12;48(1):72. doi: 10.1186/s13052-022-01267-w. Ital J Pediatr. 2022. PMID: 35550183 Free PMC article. Review.
At physical examination, he displayed marphanoid habitus, muscle hypotrophy and facial dysmorphisms consisting in high frontal hairline, upslanting palpebral fissures and full lips with bifid ugula. Cryptorchidism, shawl scrotum, mild clinodactyly of the right littl …
At physical examination, he displayed marphanoid habitus, muscle hypotrophy and facial dysmorphisms consisting in high frontal hairline, ups …
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 feet; males ha …
Kabuki syndrome: description of a 2-year old Roumanian boy and review of the literature.
Ioan DM, Fryns JP. Ioan DM, et al. Genet Couns. 2007;18(1):113-7. Genet Couns. 2007. PMID: 17515307 Review.
We report on a 2-year-old boy presenting the cardinal features of the Kabuky syndrome i.e. peculiar face, short stature moderate mental retardation, padded fingers, padded toes and shawl scrotum. Karyotype was 46, XY. Fish tests for microdeletion: 22q11 and 16q (Rub …
We report on a 2-year-old boy presenting the cardinal features of the Kabuky syndrome i.e. peculiar face, short stature moderate mental reta …
[Infantile spasms in monozygotic twins with Smith-Lemli-Opitz syndrome type I].
Itokazu N, Ohba K, Sonoda T, Ohdo S. Itokazu N, et al. No To Hattatsu. 1992 Sep;24(5):485-90. No To Hattatsu. 1992. PMID: 1389333 Review. Japanese.
They had following abnormalities: marked growth and developmental retardation, congenital heart disease, light brown hair which is rare in Japanese, small dolichocephaly, hypertelorism, anteverted nostrils, micrognathia, hypospadias and shawl scrotum. The cranial MR …
They had following abnormalities: marked growth and developmental retardation, congenital heart disease, light brown hair which is rare in J …