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Archives of Gynecology and Obstetrics

, Volume 268, Issue 1, pp 48–51 | Cite as

Prenatal sonographic features of Harlequin ichthyosis

  •  C. Berg
  •  A. Geipel
  •  M. Kohl
  •  M. Krokowski
  •  A. Baschat
  •  U. Germer
  •  U. Gembruch
Original Article
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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.

Harlequin ichthyosis Congenital ichthyosis Fetus Ultrasound 

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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  •  C. Berg
    • 1
  •  A. Geipel
    • 1
  •  M. Kohl
    • 2
  •  M. Krokowski
    • 3
  •  A. Baschat
    • 4
  •  U. Germer
    • 1
  •  U. Gembruch
    • 1
  1. 1.Department of Obstetrics and Gynecology, Medical University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany
  2. 2.Department of Pediatrics, Medical University of Lübeck, Lübeck, Germany
  3. 3.Institute of Pathology, Medical University of Lübeck, Lübeck, Germany
  4. 4.Department of Obstetrics, Gynecology & Reproductive Sciences, Center for Advanced Fetal Care, University of Maryland School of Medicine, USA

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