title: Focal dermal hypoplasia (Goltz syndrome) presenting as a severe fetal malformation syndrome.
abstract: A fetal malformation syndrome comprising growth retardation, anophthalmia, bilateral diaphragmatic herniae, bifid lower leg, syndactyly of the fingers, malrotation of the colon, hypoplastic kidneys and total anomalous pulmonary venous drainage is described in a female fetus from a consanguineous relationship. Differential diagnosis is discussed and it is suggested that this case represents an unusually severe form of Goltz syndrome.
authors.affiliation: Department of Medical Genetics, Cambridge, UK.
authors.forename: J S
authors.initials: JS
authors.lastname: Patel
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
authors.forename: A K
authors.initials: AK
authors.lastname: Charles
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000853:Anophthalmos / Q000235:genetics; D003106:Colon / Q000002:abnormalities; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005333:Fetus / Q000473:pathology; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis* / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D007866:Leg / Q000002:abnormalities; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011667:Pulmonary Veins / Q000002:abnormalities; D013576:Syndactyly / Q000235:genetics