title: De novo 4p-syndrome with oligohydramnios sequence.
abstract: 4p-syndrome, or Wolf-Hirschhorn syndrome, is associated with a deletion of chromosome 4p16.3 and involves multiple malformations that result in delayed growth and development and also facial dysmorphism. We report a case of Wolf-Hirschhorn syndrome in a female infant with a 4p deletion, for which the breakpoint was detected at p14. This patient had bilateral renal hypoplasia resulting from the oligohydramnios sequence (Potter syndrome), including characteristic facial abnormalities, deformed limbs, and pulmonary hypoplasia. Patent ductus arteriosus, ascites, and bilateral renal hypoplasia were noted. The patient had frequent pulmonary infections and died when she was 39 days old.
authors: Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors: Pen-Hua
authors: PH
authors: Su
authors: Pao-Lin
authors: PL
authors: Kuo
authors: She-Jen
authors: SJ
authors: Chen
authors: Huei-Mei
authors: HM
authors: Hung
authors: Tzong-Huang
authors: TH
authors: Yi
authors: Jia-Yuh
authors: JY
authors: Chen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D007223:Infant; D016104:Oligohydramnios / Q000150:complications*; D011247:Pregnancy; D013577:Syndrome