Patel J S, Maher E R, Charles A K
Department of Medical Genetics, Cambridge, UK.
Clin Dysmorphol. 1997 Jul;6(3):267-72. doi: 10.1097/00019605-199707000-00012.
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.
