Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn

• DOI: 10.1111/j.1399-0004.1990.tb03484.x
• Publication Date: 2010-07-19T04:29:21Z
• Authors: Mette Ramsing; Helga Rehder; Wolfgang Holzgreve; Peter Meinecke; Widukind Lenz
• Keywords: Adult; Male; 0301 basic medicine; Cleft Lip; Infant, Newborn; Anophthalmos; Syndrome; Kidney; Anus, Imperforate; Cleft Palate; 03 medical and health sciences; Pregnancy; Karyotyping; Prenatal Diagnosis; Humans; Abnormalities, Multiple; Female; Syndactyly; Ultrasonography

Clinical and autopsy Findings in two fetuses and one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal‐recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbance.