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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 …
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 …
Rubinstein-Taybi syndrome in The Netherlands.
Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, Van Spijker HG. Hennekam RC, et al. Am J Med Genet Suppl. 1990;6:17-29. doi: 10.1002/ajmg.1320370604. Am J Med Genet Suppl. 1990. PMID: 2118773
In addition to the well-known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were found in several patients. ...
In addition to the well-known characteristics, persistent fetal pads, a shawl scrotum, and a high frequency of fractures were …
Prenatal sonographic diagnosis of Aarskog syndrome.
Sepulveda W, Dezerega V, Horvath E, Aracena M. Sepulveda W, et al. J Ultrasound Med. 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. J Ultrasound Med. 1999. PMID: 10511304
Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous …
Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphal …
Delineation of the male phenotype in carniofrontonasal syndrome.
Morris CA, Palumbos JC, Carey JC. Morris CA, et al. Am J Med Genet. 1987 Jul;27(3):623-31. doi: 10.1002/ajmg.1320270315. Am J Med Genet. 1987. PMID: 3631134
Associated abnormalities included cleft lip and palate (1/6), webbed neck (2/6), Sprengel anomaly (2/6), pseudoarthrosis of the clavicle (2/6), pectus excavatum (3/6), narrow, sloping shoulders (3/6), diaphragmatic hernia (2/6), broad first toe (4/6), brachydactyly (3/6), fifth f …
Associated abnormalities included cleft lip and palate (1/6), webbed neck (2/6), Sprengel anomaly (2/6), pseudoarthrosis of the clavicle (2/ …
Prenatal sonographic findings in a case of Varadi-Papp syndrome.
Guven MA, Ceylaner S, Prefumo F, Uzel M. Guven MA, et al. Prenat Diagn. 2004 Dec 15;24(12):989-91. doi: 10.1002/pd.916. Prenat Diagn. 2004. PMID: 15614844
Postnatally, minimal micrognathia, posteriorly rotated low-set ears, minimal hypertelorism, epicanthal folds, nystagmus, esotropia, broad nasal tip, intraoral frenula and lobed tongue, shawl scrotum and duplicated nail of the index fingers of both hands were also ob …
Postnatally, minimal micrognathia, posteriorly rotated low-set ears, minimal hypertelorism, epicanthal folds, nystagmus, esotropia, broad na …
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B. Parıltay E, et al. J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482. J Pediatr Endocrinol Metab. 2016. PMID: 27544718
ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ...
ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a w …
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.
Kuroda Y, Saito Y, Enomoto Y, Naruto T, Kurosawa K. Kuroda Y, et al. Am J Med Genet A. 2024 Jan;194(1):94-99. doi: 10.1002/ajmg.a.63386. Epub 2023 Aug 30. Am J Med Genet A. 2024. PMID: 37646430
The patient was a 10-month-old male with normal developmental milestones, but had widely spaced eyes, strabismus, hypospadias, shawl scrotum, broad thumbs (right bifid thumb in x-ray), polysyndactyly of the left fourth finger, and cutaneous syndactyly of left third/ …
The patient was a 10-month-old male with normal developmental milestones, but had widely spaced eyes, strabismus, hypospadias, shawl …
Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia).
Pizio HF, Scott MH, Richard JM. Pizio HF, et al. Ophthalmic Genet. 1994 Mar;15(1):37-40. doi: 10.3109/13816819409056909. Ophthalmic Genet. 1994. PMID: 7953251
Aarskog syndrome (faciogenital dysplasia) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrotum, and dysmorphic facial features. Ophthalmic findings include hypertelorism, blepharoptosis, strabismus, and ophthalmoplegia. ...
Aarskog syndrome (faciogenital dysplasia) is a genetic growth disorder characterized by short stature, cryptorchidism, shawl scrot …
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