De novo 4p-syndrome with oligohydramnios sequence.
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.
Su
Pen-Hua
PH
Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Kuo
Pao-Lin
PL
Chen
She-Jen
SJ
Hung
Huei-Mei
HM
Yi
Tzong-Huang
TH
Chen
Jia-Yuh
JY
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