TY - JOUR
T1 - De novo 4P-syndrome with oligohydramnios sequence
AU - Su, Pen Hua
AU - Kuo, Pao-Lin
AU - Chen, She Jen
AU - Hung, Huei Mei
AU - Yi, Tzong Huang
AU - Chen, Jia Yuh
PY - 2003/9
Y1 - 2003/9
N2 - 4p-syndrome, or Wolf-Hirschhorn syndrome, is associated with a deletion of chromosome 4p 16.3 and involves multiple malformations that results 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.
AB - 4p-syndrome, or Wolf-Hirschhorn syndrome, is associated with a deletion of chromosome 4p 16.3 and involves multiple malformations that results 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.
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M3 - Article
C2 - 14625611
AN - SCOPUS:0347126429
SN - 0929-6646
VL - 102
SP - 647
EP - 649
JO - Journal of the Formosan Medical Association
JF - Journal of the Formosan Medical Association
IS - 9
ER -