Wolf-Hirschhorn syndrome: case report and review of the chromosomal aberrations associated with diaphragmatic defects

A female fetus showing severe growth retardation was delivered at 31 weeks of gestation because of fetal distress. At birth, the infant showed bradycardia and no spontaneous breathing. Although high frequency oscillatory ventilation was started, severe asphyxia persisted and the infant died of respi...

Full description

Saved in:
Bibliographic Details
Published inPathologica Vol. 90; no. 3; p. 285
Main Authors Sergi, C, Schulze, B R, Hager, H D, Beedgen, B, Zilow, E, Linderkamp, O, Otto, H F, Tariverdian, G
Format Journal Article
LanguageEnglish
Published Italy 01.06.1998
Subjects
Abnormalities, Multiple - genetics
Chromosome Aberrations
Diaphragm - abnormalities
Female
Fetal Distress
Humans
Infant, Newborn
Pregnancy
Syndrome
Online AccessGet more information

Cover

More Information
Summary:A female fetus showing severe growth retardation was delivered at 31 weeks of gestation because of fetal distress. At birth, the infant showed bradycardia and no spontaneous breathing. Although high frequency oscillatory ventilation was started, severe asphyxia persisted and the infant died of respiratory insufficiency. At the autopsy, the propositus showed microcephaly, prominent glabella, broad bridge of the nose, ocular hypertelorism, poorly differentiated and low-set ears, bilateral palatoschisis, and micrognathia. Midline closure defects of the cervical spine bodies, lower jaw, and skull base were seen at postmortem radiography. An extreme hypoplasia of both lungs, a large defect of the left diaphragm with upward displacement of viscera, and multiple cortical cysts in both kidneys were seen at postmortem examination. Karyotyping revealed a chromosomal imbalance with 46, XX, del(4) (pter-->13), characterizing the Wolf-Hirschhorn syndrome. Because diaphragmatic defects can occur in association with specific recognizable patterns of human malformation careful pathologic and genetic workup of all affected infants in crucial for accurate genetic counseling.
ISSN:0031-2983