Prenatal sonographic assessment and perinatal course of ichthyosis prematurity syndrome

Ultrasound in Obstetrics and Gynecology

Volumn 39, Issue 4, 2012, Pages 473-477

  Blaas, H G K ^a   Salvesen, K A ^a   Khnykin, D ^b   Jahnsen, F L ^b   Eik Nes, S H ^a  

^a NORWEGIAN UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Norway)

^b UNIVERSITY OF OSLO   (Norway)

Author keywords

fetal ichthyosis; ichthyosis prematurity syndrome; non visibility of fetal stomach; polyhydramnios; separation of fetal membranes

Indexed keywords

ADULT; AMNION; AMNION FLUID; ARTICLE; CASE REPORT; CHORION; ECHOGRAPHY; FEMALE; FETUS ECHOGRAPHY; HUMAN; ICHTHYOSIS; ICHTHYOSIS PREMATURITY SYNDROME; MALE; METHODOLOGY; MORTALITY; NEWBORN; NORWAY; PREGNANCY; PREGNANCY OUTCOME; PREMATURITY; PRENATAL DEVELOPMENT;

ADULT; AMNION; AMNIOTIC FLUID; CHORION; FEMALE; HUMANS; ICHTHYOSIS; INFANT, NEWBORN; INFANT, PREMATURE, DISEASES; MALE; NORWAY; PREGNANCY; PREGNANCY OUTCOME; ULTRASONOGRAPHY, PRENATAL;

EID: 84859435209     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.9014     Document Type: Article

References (21)

1. Bakharev V, Aivazyan A, Karetnikova N, Mordovtsev V, Yantovsky Y,. Fetal skin biopsy in prenatal diagnosis of some genodermatoses. Prenat Diagn 1990; 10: 1-12. (Pubitemid 20110255)
2. Elias S, Mazur M, Sabbagha R, Esterly N, Simpson J,. Prenatal diagnosis of harlequin ichthyosis. Clin Genet 1980; 17: 275-280. (Pubitemid 10107362)
3. Akiyama M,. The pathogenesis of severe congenital ichthyosis of the neonate. J Dermat Sci 1999; 21: 96-104. (Pubitemid 29401976)
4. Benoit B,. Three-dimensional ultrasonography of congenital ichthyosis. Ultrasound Obstet Gynecol 1999; 13: 380. (Pubitemid 29312658)
5. Berg C, Geipel A, Kohl M, Krokowski M, Baschat A, Germer U, Gembruch U,. Prenatal sonographic features of Harlequin ichthyosis. Arch Gynecol Obstet 2003; 268: 48-51. (Pubitemid 36717868)
6. Bongain A, Benoit B, Ejnes L, Lambert J, Gillet J,. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach. Ultrasound Obstet Gynecol 2002; 20: 82-85. (Pubitemid 34748257)
7. Mihalko M, Lindfors KK, Grix AW, Brant WE, McGahan JP,. Prenatal sonographic diagnosis of Harlequin ichthyosis. AJR Am J Roentgenol 1989; 153: 827-828. (Pubitemid 19243794)
8. Meizner I, Carmi R,. The snowflake sign. A sonographic marker for prenatal detection of fetal skin denudation. J Ultrasound Med 1990; 9: 607-609. (Pubitemid 20362835)
9. Harvey H, Shaw M, Morrell D,. Perinatal management of harlequin ichthyosis: a case report and literature review. J Perinatal 2010; 30: 66-72.
10. Klar J, Gedde-Dahl T, Larsson M, Pigg M, Carlsson B, Tentler D, Vahlquist A, Dahl N,. Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3-34.13. J Med Genet 2004; 41: 208-212. (Pubitemid 38333800)
11. Khnykin D, Rønnevig J, Johnsson M, Sitek JC, Blaas HG, Hausser I, Johansen FE, Jahnsen FL,. Ichthyosis prematurity syndrome: Clinical evaluation of 17 families with a rare disorder of lipid metabolism. J Am Acad Dermatol 2011; DOI:10.1016/j.jaad.2011.04.014 [Epub ahead of print].
12. Bygum A, Westermark P, Brandrup F,. Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype. J Am Acad Dermatol 2008; 59 (Suppl): S71-S74.
13. Niemi K, Kuokkanen K, Kanerva L, Ignatius J,. Recessive ichthyosis congenita type IV. Am J Dermatopathol 1993; 15: 224-228. (Pubitemid 23149647)
14. Brusasco A, Gelmetti C, Tadini G, Caputo R,. Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis. Br J Dermatol 1997; 136: 377-379. (Pubitemid 27105862)
15. Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, Törmä H, Vahlquist A, Bouadjar B, Dahl N, Fischer J,. Mutations in the Fatty Acid Transport Protein 4 Gene Cause the Ichthyosis Prematurity Syndrome. Am J Hum Genet 2009; 85: 248-253.
16. Montague I, Fox R, Mann R,. Intra-amniotic debris identified at ultrasound scanning: a feature of congenital ichthyosis. Ultrasound Obstet Gynecol 1997; 9: 350-351. (Pubitemid 27303317)
17. Kim YN, Jeong DH, Jeong SJ, Sung MS, Kang MS, Kim KT,. Complete chorioamniotic membrane separation with fetal restrictive dermopathy in two consecutive pregnancies. Prenat Diagn 2007; 27: 352-355.
18. Bromley B, Shipp T, Benacerraf B,. Amnion-chorion separation after 17 weeks' gestation. Obstet Gynecol 1999; 94: 1024-1026.
19. Lewi L, Hanssens M, Spitz B, Deprest J,. Complete chorioamniotic membrane separation. Case report and review of the literature. Fetal Diagn Ther 2004; 19: 78-82. (Pubitemid 37500558)
20. Stoler JM, Bromley B, Castro MA, Cole WG, Florer J, Wenstrup RJ,. Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. Am J Med Genet 2001; 101: 174-177. (Pubitemid 32520722)
21. Phadnis SV, Griffin DR, Eady RA, Rodeck CH, Chitty LS,. Prenatal diagnosis and management strategies in a family with a rare type of congenital ichthyosis. Ultrasound Obstet Gynecol 2007; 30: 908-910. (Pubitemid 350205415)