Prenatal diagnosis and management strategies in a family with a rare type of congenital ichthyosis [2]

Ultrasound in Obstetrics and Gynecology

Volumn 30, Issue 6, 2007, Pages 908-910

  Phadnis, S V ^a   Griffin, D R ^a   Eady, R A ^b   Rodeck, C H ^c   Chitty, L S ^d  

^a WEST HERTFORDSHIRE HOSPITALS NHS TRUST   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EMOLLIENT AGENT;

ACANTHOSIS; ADULT; AMNIOCENTESIS; AMNION FLUID; ANAMNESIS; AUTOPSY; CASE REPORT; CESAREAN SECTION; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EPITHELIUM HYPERPLASIA; FEMALE; FETUS ECHOGRAPHY; FETUS MORTALITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; LETTER; MALE; NEWBORN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RARE DISEASE; RESPIRATORY DISTRESS; SWEATING; TREATMENT OUTCOME; VAGINAL DELIVERY;

AMNIOTIC FLUID; FAMILY; FEMALE; FETAL MONITORING; HUMANS; ICHTHYOSIS; INFANT, NEWBORN; MALE; PREGNANCY; PREGNANCY OUTCOME; ULTRASONOGRAPHY, PRENATAL;

EID: 36749028926     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.4004     Document Type: Letter

References (9)

1. Berg C, Geipel A, Kohl M, Krokowski M, Baschat AA, Germer U, Gembruch U. Prenatal sonographic features of Harlequin ichthyosis. Arch Gynecol Obstet 2003; 268: 48-51.
2. 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.
3. Meizner I, Carmi R. The snowflake sign. A sonographic marker for prenatal detection of fetal skin denudation. J Ultrasound Med 1990; 9: 607-609.
4. Suzumori K, Kanazaki T. Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases. Prenat Diagn 1991; 11: 451-457.
5. Klar J, Gedde-Dahl T Jr, 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.
6. Lefevre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 2004; 13: 2473-2482.
7. Eady RA, Gunner DB, Tidman MJ, Nicolaides KH, Rodeck CH. Rapid processing of fetal skin for prenatal diagnosis by light and electron microscopy. J Clin Pathol 1984; 37: 633-638.
8. Bongain A, Benoit B, Ejnes L, Lambert JC, Gillet JY. Harlequin fetus: three-dimensional sonographic findings and a new diagnostic approach. Ultrasound Obstet Gynecol 2002; 20: 82-85.
9. Benoit B. Three-dimensional ultrasonography of congenital ichthyosis. Ultrasound Obstet Gynecol 1999; 13: 380.