Trimethadione embryopathy
| Classification according to ICD-10 | |
|---|---|
| Q86.8 | Other congenital malformation syndromes due to known external causes |
| ICD-10 online (WHO version 2019) | |
The trimethadione embryopathy is a rare malformation syndrome of the newborn due to the ingestion of certain antiepileptic drugs during the pregnancy of the mother, namely the derivatives of oxazolidine (oxazolidine-2,4-diones) as paramethadione and trimethadione .
Synonyms are: trimethadione exposure, prenatal; Trimethadione Syndrome, Fetal; English Fetal trimethadione syndrome (also paramethadione syndrome, German syndrome, tridione syndrome)
The first description comes from 1970 by the US doctors James German, Areta Kowal and Kathryn H. Ehlers.
Clinical manifestations
Clinical criteria are:
- Intellectual disability , developmental retardation
- Intrauterine growth retardation , short stature after birth
- Facial dysmorphism with brachycephaly , hypoplasia of the upper jaw, upturned nose with a wide bridge of the nose, strabismus , ptosis , epicanthus , cleft lip and palate , microgenius , dysplastic auricles
- Heart defect
- Hypospadias , clitoral hypertrophy
literature
- GL Feldman, DD Weaver, EW Lovrien: The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome. In: American journal of diseases of children. Volume 131, Number 12, December 1977, pp. 1389-1392, PMID 412416 .
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b Trimethadione embryopathy. In: Orphanet (Rare Disease Database).
- ↑ J. German, A. Kowal, KH Ehlers: Trimethadione and human teratogenesis. In: Teratology. Volume 3, Number 4, November 1970, pp. 349-362, doi: 10.1002 / tera.1420030412 , PMID 5006237 .
