Prenatal sonographic features of Harlequin ichthyosis

C. Berg, A. Geipel, M. Kohl, M. Krokowski, A. A. Baschat, U. Germer, U. Gembruch

Research output: Contribution to journalArticle

Abstract

Harlequin ichthyosis (HI) is a severe and usually fatal congenital keratinization disorder with autosomal recessive inheritance. For over a decade, prenatal diagnosis of HI relied on fetoscopic or sonographically guided skin biopsies, and, therefore, was limited to previously affected families. Only a few cases of prenatal sonographic diagnosis have been published and the sonographic findings are variable. We report a case of HI, in which the typical features were detected during fetal life but the condition remained undiagnosed at 35 weeks' gestational age in this pregnancy complicated by premature rupture of membranes, oligohydramnios and intrauterine growth retardation. The documented prenatal findings were a flat profile with absent nose; a large mouth, widely gaping open; dysplastic ears; abnormal fixed position of the hands; and edema of thighs and feet; and intrauterine growth retardation. Following elective cesarean section the infant died of septicemia 12 days post-partum despite etretinate and antibiotic treatment. The sonographic features of HI are discussed together with those previously reported and an attempt is made to delineate sonographic markers of this rare disorder.

Original languageEnglish (US)
Pages (from-to)48-51
Number of pages4
JournalArchives of Gynecology and Obstetrics
Volume268
Issue number1
StatePublished - Apr 1 2003
Externally publishedYes

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Keywords

  • Congenital ichthyosis
  • Fetus
  • Harlequin ichthyosis
  • Ultrasound

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Berg, C., Geipel, A., Kohl, M., Krokowski, M., Baschat, A. A., Germer, U., & Gembruch, U. (2003). Prenatal sonographic features of Harlequin ichthyosis. Archives of Gynecology and Obstetrics, 268(1), 48-51.