title: Fryns anophthalmia-plus syndrome in an 18-week-old fetus.
abstract: Fryns anophthalmia-plus syndrome is a very rare condition initially described by Fryns and colleagues in 1995 in a pair of siblings of nonconsanguineous parents. Since that time, only a few cases have been reported, most of them in newborns and young children. Clinical presentation is variable and includes anophthalmia/microphthalmia, cleft lip/palate, and other facial deformities. Furthermore, skeletal, central nervous system, and endocrine anomalies have been described. We report the case of a male fetus of 18 weeks of gestation with normal karyotype and findings matching Fryns anophthalmia-plus syndrome. Pregnancy was terminated because of sonographically proven facial midline defects and a marked cerebral ventriculomegaly. Macroscopic and histological findings obtained at autopsy showed extreme bilateral microphthalmia, unilateral cleft palate, unilateral nasal deformity, and low-set ears. Skeletal anomalies included 13 pairs of ribs, premature ossification of the calcaneus, and talipes.
authors.affiliation: Department of Paidopathology, University of Bonn, Bonn, Germany.
authors.forename: Caren
authors.initials: C
authors.lastname: Jayasinghe
authors.forename: Ulrich
authors.initials: U
authors.lastname: Gembruch
authors.forename: Klaus
authors.initials: K
authors.lastname: Kuchelmeister
authors.forename: Friederike
authors.initials: F
authors.lastname: Körber
authors.forename: Annette M
authors.initials: AM
authors.lastname: Müller
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000025:Abortion, Eugenic; D000328:Adult; D000853:Anophthalmos / Q000150:complications / Q000473:pathology*; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D005333:Fetus; D005865:Gestational Age; D006801:Humans; D008297:Male; D011247:Pregnancy