De novo 4P-syndrome with oligohydramnios sequence

Pen Hua Su, Pao-Lin Kuo, She Jen Chen, Huei Mei Hung, Tzong Huang Yi, Jia Yuh Chen

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)647-649
Number of pages3
JournalJournal of the Formosan Medical Association
Volume102
Issue number9
Publication statusPublished - 2003 Sep

Fingerprint

Wolf-Hirschhorn Syndrome
Oligohydramnios
Kidney
Lung
Patent Ductus Arteriosus
Growth and Development
Ascites
Extremities
Infection
Chromosome 4 short arm deletion

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Su, P. H., Kuo, P-L., Chen, S. J., Hung, H. M., Yi, T. H., & Chen, J. Y. (2003). De novo 4P-syndrome with oligohydramnios sequence. Journal of the Formosan Medical Association, 102(9), 647-649.
Su, Pen Hua ; Kuo, Pao-Lin ; Chen, She Jen ; Hung, Huei Mei ; Yi, Tzong Huang ; Chen, Jia Yuh. / De novo 4P-syndrome with oligohydramnios sequence. In: Journal of the Formosan Medical Association. 2003 ; Vol. 102, No. 9. pp. 647-649.
@article{ea17f893b488480880bd68f6a4d9bf61,
title = "De novo 4P-syndrome with oligohydramnios sequence",
abstract = "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.",
author = "Su, {Pen Hua} and Pao-Lin Kuo and Chen, {She Jen} and Hung, {Huei Mei} and Yi, {Tzong Huang} and Chen, {Jia Yuh}",
year = "2003",
month = "9",
language = "English",
volume = "102",
pages = "647--649",
journal = "Journal of the Formosan Medical Association",
issn = "0929-6646",
publisher = "Excerpta Medica Asia Ltd.",
number = "9",

}

Su, PH, Kuo, P-L, Chen, SJ, Hung, HM, Yi, TH & Chen, JY 2003, 'De novo 4P-syndrome with oligohydramnios sequence', Journal of the Formosan Medical Association, vol. 102, no. 9, pp. 647-649.

De novo 4P-syndrome with oligohydramnios sequence. / Su, Pen Hua; Kuo, Pao-Lin; Chen, She Jen; Hung, Huei Mei; Yi, Tzong Huang; Chen, Jia Yuh.

In: Journal of the Formosan Medical Association, Vol. 102, No. 9, 09.2003, p. 647-649.

Research output: Contribution to journalArticle

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.

UR - http://www.scopus.com/inward/record.url?scp=0347126429&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0347126429&partnerID=8YFLogxK

M3 - Article

C2 - 14625611

AN - SCOPUS:0347126429

VL - 102

SP - 647

EP - 649

JO - Journal of the Formosan Medical Association

JF - Journal of the Formosan Medical Association

SN - 0929-6646

IS - 9

ER -

Su PH, Kuo P-L, Chen SJ, Hung HM, Yi TH, Chen JY. De novo 4P-syndrome with oligohydramnios sequence. Journal of the Formosan Medical Association. 2003 Sep;102(9):647-649.