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First‐trimester features of Fowler syndrome (hydrocephaly–hydranencephaly proliferative vasculopathy)
Author(s) -
LaurichesseDelmas H.,
Beaufrère A. M.,
Martin A.,
Kaemmerlen A. G.,
Déchelotte P.,
Lémery D.
Publication year - 2002
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2002.00830.x
Subject(s) - hydranencephaly , medicine , arthrogryposis , pathological , fetus , pregnancy , cystic hygroma , pathology , surgery , genetics , biology
We describe the features of Fowler syndrome (proliferative vasculopathy and hydrocephaly–hydranencephaly) diagnosed in the first trimester. The pregnancy with no significant family history was referred for karyotyping and ultrasound examination after a cystic hygroma was seen at 12 weeks. At 13 weeks, ultrasound examination revealed hydrocephaly–hydranencephaly, fetal akinesia, and arthrogryposis associated with increased nuchal translucency. The parents opted for termination of pregnancy and the diagnosis of Fowler syndrome was confirmed by pathological examination of the fetus. Calcified necrotic lesions and proliferative vasculopathy were observed in the entire central nervous system including the brainstem and spinal cord. Cases previously reported in siblings suggest an autosomal recessive transmission but specific genetic antenatal diagnosis is not yet available. The diagnosis of proliferative vasculopathy and hydrocephaly–hydranencephaly (Fowler syndrome) should be considered whenever hydrocephaly–hydranencephaly associated with a fetal akinetic sequence are encountered at the end of the first trimester. Genetic counseling is recommended. Copyright © 2002 International Society of Ultrasound in Obstetrics and Gynecology