Foramina parietalia permagna
| Classification according to ICD-10 | |
|---|---|
| Q75.8 | Other specified congenital malformations of the skull and facial bones |
| ICD-10 online (WHO version 2019) | |
Foramina parietalia permagna (FPP) describes a very rare congenital disorder of the development of the skull with the main characteristic of circumscribed bone defects in the parietal bone on both sides due to considerable enlargement ( Latin permagna , “very large” ) of the foramina parietalia .
Synonyms are: Bonnaire syndrome; Parietal foramina, enlarged; Cranium bifidum, hereditary; English Catlin marks
distribution
The frequency is given as 1 in 15,000 - 25,000, inheritance is autosomal dominant .
Cause and classification
Depending on the mutations underlying the disease , the following classification can be made:
- Parietal foramina 1 , Mutations in MSX2 - gene at locus 5q35.2
- Parietal foramina 2 , mutations in the ALX4 gene at 11p11.2 5q35.2
- Parietal foramina 3
Clinical manifestations
Clinical criteria are:
- congenital rounded defects in the parietal bone near the sagittal suture
- possibly changes in the EEG over the defects, local alopecia
- occasionally headache and / or absenteeism , cleft lip and palate
In the context of syndromes
Enlarged parietal foramina are found in the following syndromes :
- FG syndrome
- Potocki-Shaffer Syndrome
- Ritscher-Schinzel syndrome
- Parietal foramina with dressocranial dysostosis
- Multiple cartilaginous exostoses
- Toriello Syndrome
history
The name refers to the French gynecologist Erasme Bonnaire (1858-1918) or to the name of the family in which these changes were described by William M. Goldsmith in 1922.
The first description was probably made in 1707 by Giovanni Maria Lancisi .
literature
- M. Mupparapu, RE Binder, F. Duarte: Hereditary cranium bifidum persisting as enlarged parietal foramina (catlin marks) on cephalometric radiographs. In: American journal of orthodontics and dentofacial orthopedics: official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics. Volume 129, No. 6, June 2006, pp. 825-828, doi: 10.1016 / j.ajodo.2006.02.020 , PMID 16769502 .
Web links
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 .
- ↑ Parietal Foramina. In: Orphanet (Rare Disease Database).
- ^ Genetics Home Reference
- ^ Parietal foramina 1. In: Online Mendelian Inheritance in Man . (English)
- ^ Parietal foramina 2. In: Online Mendelian Inheritance in Man . (English)
- ^ Parietal foramina 3. In: Online Mendelian Inheritance in Man . (English)
- ^ Foramina parietalia with dressocranial dysostosis. In: Orphanet (Rare Disease Database).
- ^ Parietal foramina with cleidocranial dysplasia. In: Online Mendelian Inheritance in Man . (English)
- ↑ Acromelic Frontonasal Dysostosis. In: Online Mendelian Inheritance in Man . (English)
- ^ E. Bonnaire: Quelques anomalies de développement des enveloppes crâniennes du foetus et du nouveau-ne. Paris, 1891 (?)
- ^ WM Goldsmith: 'The Catlin mark': the inheritance of an unusual opening in the parietal bones. In: Journal of Heredity. Volume 13, 1922, pp. 69-71.
