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01-05-2007 | Paediatric Neuroradiology

Cerebrovascular disease associated with Aarskog-Scott syndrome

Authors: Michael L. DiLuna, Nduka M. Amankulor, Michele H. Johnson, Murat Gunel

Published in: Neuroradiology | Issue 5/2007

Abstract

Faciogenital dysplasia, also known as Aarskog-Scott syndrome (AAS), is an X-linked dominant congenital disorder characterized by multiple facial, musculoskeletal, dental, neurological and urogenital abnormalities, ocular manifestations, congenital heart defects, low IQ and behavioral problems. Here we describe an unusual presentation of dysplastic carotid artery, basilar artery malformation or occlusion and posterior circulation aneurysm in a 13-year-old male with AAS.

Aarskog D (1970) A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 77:856–861PubMedCrossRef

Scott CI (1971) Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. Birth Defects Orig Artic Ser 7:240–246

Hanley WB, McKusick VA, Barranco FT (1967) Osteochondritis dissecans with associated malformations in two brothers. A review of familial aspects. J Bone Joint Surg Am 49:925–937PubMed

Welch JP, Temtamy SA (1966) Hereditary contractures of the fingers (camptodactyly). J Med Genet 3:104–113PubMed

Teebi AS, Rucquoi JK, Meyn MS (1993) Aarskog syndrome: report of a family with review and discussion of nosology. Am J Med Genet 46:501–509PubMedCrossRef

Fryns JP (1992) Aarskog syndrome: the changing phenotype with age. Am J Med Genet 43:420–427PubMedCrossRef

Frankova Y, Stloukalova M, Rubin A (1985) Aarskog’s syndrome: variable manifestations in men and women. Cesk Pediatr 41:535–538

Bawle E, Tyrkus M, Lipman S, Bozimowski D (1984) Aarskog syndrome: full male and female expression associated with an X-autosome translocation. Am J Med Genet 17:595–602PubMedCrossRef

van de Vooren MJ, Niermeijer MF, Hoogeboom AJ (1983) The Aarskog syndrome in a large family, suggestive for autosomal dominant inheritance. Clin Genet 24:439–445PubMedCrossRef

10.

Grier RE, Farrington FH, Kendig R, Mamunes P (1983) Autosomal dominant inheritance of the Aarskog syndrome. Am J Med Genet 15:39–46PubMedCrossRef

11.

Escobar V, Weaver DD (1978) Aarskog syndrome. New findings and genetic analysis. JAMA 240:2638–2641PubMedCrossRef

12.

Furukawa CT, Hall BD, Smith DW (1972) The Aarskog syndrome. J Pediatr 81:1117–1122PubMedCrossRef

13.

Sugarman GI, Rimoin DL, Lachman RS (1973) The facial-digital-genital (Aarskog) syndrome. Am J Dis Child 126:248–252PubMed

14.

Fryns JP, Macken J, Vinken L, Igodt-Ameye L, van den Berghe H (1978) The Aarskog syndrome. Hum Genet 42:129–135PubMedCrossRef

15.

Duncan PA, Klein RM, Wilmot PL, Shapiro LR (1977) Additional features of the Aarskog syndrome. J Pediatr 91:769–770PubMedCrossRef

16.

Hoo JJ (1979) The Aarskog (facio-digito-genital) syndrome. Clin Genet 16:269–276PubMedCrossRef

17.

Berry C, Cree J, Mann T (1980) Aarskog’s syndrome. Arch Dis Child 55:706–710PubMed

18.

Oberiter V, Lovrencic MK, Schmutzer L, Kraus O (1980) The Aarskog syndrome. Acta Paediatr Scand 69:567–570PubMed

19.

Pedersen JC, Fryns JP, Bracke P, Geeraert M, Van der Berghe H (1980) The Aarskog syndrome. Ann Genet 23:108–110PubMed

20.

Maxwell GM (1982) Aarskog’s syndrome. Med J Aust 2:66–67PubMed

21.

Shinkawa T, Yamauchi Y, Osada Y, Ishisawa N (1983) Aarskog syndrome. Urology 22:624–626PubMedCrossRef

22.

Goyel NA, Patel ZM, Wagle PB (1987) Aarskog syndrome. Indian Pediatr 24:523–525PubMed

23.

Lizcano-Gil LA, Garcia-Cruz D, Cantu JM, Fryns JP (1994) The facio-digito-genital syndrome (Aarskog syndrome): a further delineation of the distinct radiological findings. Genet Couns 5:387–392PubMed

24.

Chaddha V, Phadke SR (2002) Aarskog syndrome. Indian Pediatr 39:400PubMed

25.

Kirkham TH, Milot J, Berman P (1975) Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome. Am J Ophthalmol 79:441–445PubMed

26.

Brodsky MC, Keppen LD, Rice CD, Ranells JD (1990) Ocular and systemic findings in the Aarskog (facial-digital-genital) syndrome. Am J Ophthalmol 109:450–456PubMed

27.

Pizio HF, Scott MH, Richard JM (1994) Tortuosity of the retinal vessels in Aarskog syndrome (faciogenital dysplasia). Ophthalmic Genet 15:37–40PubMed

28.

Melnick M, Shields ED (1976) Aarskog syndrome: new oral-facial findings. Clin Genet 9:20–24PubMedCrossRef

29.

Bartsocas CS, Dimitriou JK (1975) Aarskog-Scott syndrome of unusual facies, joint hypermobility, genital anomaly and short stature. Birth Defects Orig Artic Ser 11:453–455PubMed

30.

Hurst DL (1983) Metatarsus adductus in two brothers with Aarskog syndrome. J Med Genet 20:477PubMed

31.

Fryns JP, Descheemaeker MJ (1995) Aarskog syndrome: severe neurological deficit with spastic hemiplegia resulting from perinatal cerebrovascular accidents in two non-related males. Clin Genet 48:54–55PubMedCrossRef

32.

Petryk A, Richton S, Sy JP, Blethen SL (1999) The effect of growth hormone treatment on stature in Aarskog syndrome. J Pediatr Endocrinol Metab 12:161–165PubMed

33.

Porteous ME, Goudie DR (1991) Aarskog syndrome. J Med Genet 28:44–47PubMed

34.

Fernandez I, Tsukahara M, Mito H et al (1994) Congenital heart defects in Aarskog syndrome. Am J Med Genet 50:318–322PubMedCrossRef

35.

Logie LJ, Porteous ME (1998) Intelligence and development in Aarskog syndrome. Arch Dis Child 79:359–360PubMedCrossRef

36.

Assumpcao F, Santos RC, Rosario M, Mercadante M (1999) Brief report: autism and Aarskog syndrome. J Autism Dev Disord 29:179–181PubMedCrossRef

37.

Fryns JP, Van den Berghe H (1989) On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome. J Genet Hum 37:221–223PubMed

38.

Mikelsaar RV, Lurie IW (1992) Atypical case of Aarskog syndrome. J Med Genet 29:349–350PubMed

39.

LaDine BJ, Simmons JA, Shrimpton AE, Hoo JJ (2001) Syndrome of short stature, widow’s peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene. Am J Med Genet 99:248–251PubMedCrossRef

40.

Reddy P, Kharbanda OP, Kabra M, Duggal R (1999) Dental and craniofacial features of Aarskog syndrome: report of a case and review of literature. J Clin Pediatr Dent 23:155–159PubMed

41.

van den Bergh P, Fryns JP, Wilms G, Piot R, Dralands G, van den Bergh R (1984) Anomalous cerebral venous drainage in Aarskog syndrome. Clin Genet 25:288–294PubMedCrossRef

42.

Pasteris NG, Cadle A, Logie LJ et al (1994) Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 79:669–678PubMedCrossRef

43.

Zheng Y, Fischer DJ, Santos MF et al (1996) The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. J Biol Chem 271:33169–33172PubMedCrossRef

44.

Olson MF (1996) Guanine nucleotide exchange factors for the Rho GTPases: a role in human disease? J Mol Med 74:563–571PubMedCrossRef

45.

Estrada L, Caron E, Gorski JL (2001) Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane. Hum Mol Genet 10:485–495PubMedCrossRef

46.

Gao J, Estrada L, Cho S, Ellis RE, Gorski JL (2001) The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis. Hum Mol Genet 10:3049–3062PubMedCrossRef

47.

Gorski JL, Estrada L, Hu C, Liu Z (2000) Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome). Dev Dyn 218:573–586PubMedCrossRef

48.

Orrico A, Galli L, Falciani M et al (2000) A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome). FEBS Lett 478:216–220PubMedCrossRef

49.

Pasteris NG, Gorski JL (1995) An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome. Hum Genet 96:494PubMedCrossRef

50.

Schwartz CE, Gillessen-Kaesbach G, May M et al (2000) Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. Eur J Hum Genet 8:869–874PubMedCrossRef

Title: Cerebrovascular disease associated with Aarskog-Scott syndrome
Authors: Michael L. DiLuna
Nduka M. Amankulor
Michele H. Johnson
Murat Gunel
Publication date: 01-05-2007
Publisher: Springer-Verlag
Published in: Neuroradiology / Issue 5/2007
Print ISSN: 0028-3940
Electronic ISSN: 1432-1920
DOI: https://doi.org/10.1007/s00234-007-0209-1

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Cerebrovascular disease associated with Aarskog-Scott syndrome

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