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Ichthyosis prematurity syndrome with separation of fetal membranes and neonatal asphyxia.
- Source :
-
BMJ case reports [BMJ Case Rep] 2012 Aug 27; Vol. 2012. Date of Electronic Publication: 2012 Aug 27. - Publication Year :
- 2012
-
Abstract
- Ichthyosis prematurity syndrome (IPS) is a rare inherited skin disorder. Children are born prematurely with thick skin and have been found to develop neonatal asphyxia due to occlusions in the bronchial tree from debris in the amniotic fluid. At 31 weeks of gestation, separation of amniotic and chorionic membranes was identified as well as polyhydramnion. The child was born 2 weeks later, with thickened skin with a granular appearance and required immediate ventilation and intensive care. At 2 years of age, the patient has developed an atopic skin condition with severe itching, recurrent skin infections, food intolerance and periods of wheezing. Prenatal observation of separation of foetal membranes or dense amniotic fluid may be signs of IPS and severe complication immediately after birth.
- Subjects :
- Adult
Aniridia
Asphyxia Neonatorum genetics
Breech Presentation
Cesarean Section
Child, Preschool
Codon, Nonsense
Diagnosis, Differential
Exons genetics
Fatty Acid Transport Proteins genetics
Female
Fetal Membranes, Premature Rupture diagnostic imaging
Fetal Membranes, Premature Rupture genetics
Follow-Up Studies
Homozygote
Humans
Ichthyosis genetics
Image Interpretation, Computer-Assisted
Imaging, Three-Dimensional
Infant
Infant, Newborn
Infant, Premature, Diseases genetics
Kidney abnormalities
Polyhydramnios diagnostic imaging
Polyhydramnios genetics
Pregnancy
Psychomotor Disorders
Sweden
Ultrasonography, Prenatal
Amnion diagnostic imaging
Asphyxia Neonatorum diagnostic imaging
Chorion diagnostic imaging
Ichthyosis diagnostic imaging
Infant, Premature, Diseases diagnostic imaging
Subjects
Details
- Language :
- English
- ISSN :
- 1757-790X
- Volume :
- 2012
- Database :
- MEDLINE
- Journal :
- BMJ case reports
- Publication Type :
- Academic Journal
- Accession number :
- 22927265
- Full Text :
- https://doi.org/10.1136/bcr.02.2012.5823