Harlequin foetus

Journal of Postgraduate Medicine

Volumn 49, Issue 1, 2003, Pages 81-82

  Bianca, Sebastiano ^a   Ingegnosi, C ^a   Bonaffini, F ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; CONSANGUINEOUS MARRIAGE; DISEASE CLASSIFICATION; EAR MALFORMATION; ECTROPION; FLEXION CONTRACTURE; GENETIC ANALYSIS; HARLEQUIN FETUS; HUMAN; MALE; NEWBORN; NEWBORN MORTALITY; PATHOGENESIS;

EID: 0038545443     PISSN: 00223859     EISSN: None     Source Type: Journal    
DOI: 10.4103/0022-3859.921     Document Type: Article

References (7)

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2. Dale BA, Kam E. Harlequin ichthyosis: variability in expression and hypothesis for disease mechanism. Arch Dermatol 1993;129:1471-7.
3. Akiyama M, Holbrook KA. Analysis of skin-derived amniotic fluid cells in the second trimester; detection of severe genodermatoses expressed in the fetal period. J Invest Dermatol 1994;103:674-7.
4. Akiyama M. The pathogenesis of severe congenital ichthyosis of the neonate. J Dermatol Sci 1999;21:96-104.
5. Flekman P, Hager B, Dale BA. Harlequin ichthyosis keratinocytes in lifted culture differentiate poorly by morphologic and biochemical criteria. J Invest Dermatol 1997;109:36-8.
6. Unamuno P, Pierola JM, Fernandez E, Roman C, Velasco JA. Harlequin fetus in four siblings. Br J Dermatol 1987;116:569-72.
7. Suzumori K, Kanzaki T. Pre-natal diagnosis of Harlequin ichthyosis by fetal skin biopsy: report of two cases. Prenat Diagn 1991;11:451-7.