Severe congenital non-syndromic ichthyosis: ultrasound diagnosis of a prenatal case

被引:1
|
作者
Garofalo, Giulia [1 ]
Cassart, Marie [1 ]
Desir, Julie [1 ]
Thomas, Dominique [1 ]
机构
[1] Univ Libre Bruxelles, Ixelles Hosp, Obstet & Gynaecol Dept, Rue Jean Paquot 63, B-1050 Ixelles, Belgium
关键词
Congenital ichthyosis; fetus; prenatal diagnosis; ultrasound; 3-DIMENSIONAL SONOGRAPHIC FINDINGS; HARLEQUIN ICHTHYOSIS;
D O I
10.1515/crpm-2018-0048
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Background: Prenatal diagnosis of congenital ichthyosis is still a challenge and very few cases of sonographic diagnosis have been described in the literature. Diagnosis by fetal ultrasound is made from the late second trimester and prenatal genetic diagnosis can be possible only if a proband is known. Case presentation: We report the case of a prenatal diagnosis of severe non-syndromic ichthyosis in a primigravida woman with no personal or family history for this pathology. Conclusion: Our case outlines prenatal sonographic signs suggestive of ichthyosis orienting genetic diagnosis.
引用
收藏
页数:5
相关论文
共 50 条
  • [1] Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
    Aubry, Rachel L.
    Innes, A. Micheil
    Haber, Richard M.
    SAGE OPEN MEDICAL CASE REPORTS, 2024, 12
  • [2] Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population
    Israeli, S.
    Goldberg, I.
    Fuchs-Telem, D.
    Bergman, R.
    Indelman, M.
    Bitterman-Deutsch, O.
    Harel, A.
    Mashiach, Y.
    Sarig, O.
    Sprecher, E.
    CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2013, 38 (08) : 911 - 916
  • [3] Inherited ichthyosis: Non-syndromic forms
    Takeichi, Takuya
    Akiyama, Masashi
    JOURNAL OF DERMATOLOGY, 2016, 43 (03): : 242 - 251
  • [4] Prenatal diagnosis of severe congenital ichthyosis (Harlequin fetus) by ultrasonography
    1201 S Euclid Avenue, Sioux Falls, SD 57105, United States
    J. ULTRASOUND MED., 3 (241-243):
  • [5] Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a middle eastern population
    Mohamad, J.
    Samuelov, L.
    Malchin, N.
    Tiaber, S.
    Rabinowitz, T.
    Bitterman-Deutsch, O.
    Molho-Pessach, V.
    Cohen-Barak, E.
    Bach, G.
    Garty, B.
    Bergman, R.
    Harel, A.
    Nanda, A.
    Lestringant, G.
    McGrath, J.
    Shalev, S.
    Shomron, N.
    Mashiach, J.
    Eskin-Schwartz, M.
    Sarig, O.
    Sprecher, E.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2018, 138 (05) : S48 - S48
  • [6] Prenatal diagnosis and genetic counselling of fetal non-syndromic microphthalmia and anophthalmia
    Liu, Y.
    Wu, Q.
    Wang, L.
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2023, 62 : 126 - 126
  • [7] AN ASSESSMENT OF NON-SYNDROMIC CONGENITAL CATARACT IN THE PATIENTS OF ARCC (AUTOSOMAL RECESSIVE NON-SYNDROMIC CONGENITAL CATARACT)
    Ameer, Salman
    Ali, Irfan
    Rashid, Mian Usman
    INDO AMERICAN JOURNAL OF PHARMACEUTICAL SCIENCES, 2018, 5 (11): : 12512 - 12516
  • [8] Diagnosis and therapy of syndromic and non-syndromic craniosynostosis
    Cedzich, C
    Farmand, M
    HNO, 2003, 51 (03) : 198 - 208
  • [9] PRENATAL-DIAGNOSIS OF SEVERE CONGENITAL ICHTHYOSIS (HARLEQUIN FETUS) BY ULTRASONOGRAPHY
    WATSON, WJ
    MABEE, LM
    JOURNAL OF ULTRASOUND IN MEDICINE, 1995, 14 (03) : 241 - 243
  • [10] NON-SYNDROMIC CONGENITAL, OLIGODONTIA: MANAGEMENT OF A CASE IN A NIGERIAN CHILD
    Idowu, Enoch Abiodun
    Agbara, Rowland
    Oladotun, Festus Olabode
    Denloye, Obafunke
    JOURNAL OF IMAB, 2019, 25 (04): : 2862 - 2867