Craniotelencephalic dysplasia

Classification according to ICD-10
Q04.3	Other reduction deformities of the brain
ICD-10 online (WHO version 2019)

The Kraniotelenzephale dysplasia is a very rare congenital disease with a combination of protruding bones of the forehead, encephalocele , craniosynostosis and developmental retardation .

distribution

The frequency is given as less than 1 in 1,000,000, so far only a few people have been reported. The inheritance mechanism and the cause are not yet known.

Clinical manifestations

Clinical criteria are:

Mental disability
Frontal bony protrusion with defect formation and encephalocele
other midline defects such as septo-optic dysplasia , lack of bars

other malformations such as craniosynostosis , lissencephaly , lack of the olfactory brain ( arrhinencephaly ) can also occur

history

The first description comes from 1958 by the French doctor S. Daum and colleagues.

The term was in 1964 by JT Jabbour and the Iranian - US pediatric radiologist suggested Hooshang Taybi.

literature

PC Gupta, D. Peralta, M. Parker, C. Crowe, B. Clark, EI Traboulsi: Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. In: American journal of medical genetics. Part A. Vol. 117A, No. 1, February 2003, pp. 72-75, doi: 10.1002 / ajmg.a.10154 , PMID 12548743 .
HE Hughes, DC Harwood-Nash, LE Becker: Craniotelencephalic dysplasia in sisters: further delineation of a possible syndrome. In: American journal of medical genetics. Vol. 14, No. 3, March 1983, pp. 557-565, doi: 10.1002 / ajmg.1320140320 , PMID 6859106 .

Individual evidence

↑ ^a ^b Dysplasia, craniotelencephalic. In: Orphanet (Rare Disease Database).
↑ Craniotelencephalic dysplasia. In: Online Mendelian Inheritance in Man . (English)
^ S. Daum, J. Le Beau, P. Minuit: Dysplasie telencephalique avec excroissance de l'os frontal. In: La semaine des hôpitaux: organe fondé par l'Association d'enseignement médical des hôpitaux de Paris. Vol. 34, No. 31, June 1958, pp. 1893-1896, PMID 13568913 .
^ JT Jabbour, H. Taybi: Craniotelencephalic dysplasia. An Unusual Example Of Dysplasia Of Frontal Bone. In: American journal of diseases of children. Vol. 108, December 1964, pp. 627-632, PMID 14213965 .

[Orpha-1] Dysplasia, craniotelencephalic. In: Orphanet (Rare Disease Database).

[2] Craniotelencephalic dysplasia. In: Online Mendelian Inheritance in Man . (English)

[3] S. Daum, J. Le Beau, P. Minuit: Dysplasie telencephalique avec excroissance de l'os frontal. In: La semaine des hôpitaux: organe fondé par l'Association d'enseignement médical des hôpitaux de Paris. Vol. 34, No. 31, June 1958, pp. 1893-1896, PMID 13568913 .

[4] JT Jabbour, H. Taybi: Craniotelencephalic dysplasia. An Unusual Example Of Dysplasia Of Frontal Bone. In: American journal of diseases of children. Vol. 108, December 1964, pp. 627-632, PMID 14213965 .