title: Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).
abstract: We report two male siblings with cryptophthalmos syndrome (Fraser syndrome), an autosomal recessive multiple malformation syndrome with cryptophthalmos, abnormal genitalia, and syndactyly of the fingers and toes as major clinical symptoms. Renal anomalies (uni- or bilateral agenesis) occur in 85 per cent. In the second trimester of both pregnancies (at 23.5 and 18.5 weeks, respectively), echographic examination revealed multiple anomalies: oligoamnios sequence and fetal hydrops with nuchal oedema. Contrasting with the oligohydramnios, the lungs were voluminous and hyperechogenic. Fetopathological examination revealed that the oligoamnios sequence was due to major renal abnormalities (bilateral renal agenesis in the first, and unilateral renal agenesis and contralateral multicystic renal dysplasia in the second sibling). Laryngeal substenosis had resulted in another malformation sequence consisting of overdistended lungs, and non-immune fetal hydrops. The present experience shows that in the presence of an oligoamnios sequence with contrastingly voluminous, hyperechogenic lungs, the diagnosis of cryptophthalmos syndrome should seriously be considered in the differential diagnosis.
authors.affiliation: Centre for Human Genetics, University Hospital Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: D
authors.initials: D
authors.lastname: van Schoubroeck
authors.forename: K
authors.initials: K
authors.lastname: Vandenberghe
authors.forename: H
authors.initials: H
authors.lastname: Nagels
authors.forename: P
authors.initials: P
authors.lastname: Klerckx
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D005124:Eye Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007830:Larynx / Q000002:abnormalities; D008297:Male; D011247:Pregnancy; D013576:Syndactyly / Q000000981:diagnostic imaging; D013577:Syndrome; D016216:Ultrasonography, Prenatal