Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin syndrome).
We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications.
D001842:Bone and Bones / Q000002:abnormalities*; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009264:Nails, Malformed; D012737:Sex Factors; D012871:Skin Diseases / Q000235:genetics*; D014960:X Chromosome