Acrania

Classification according to ICD-10
Q00.0	Anencephaly acrania amyelencephaly acephaly hemiencephaly hemicephaly
Q75.8	Other specified congenital malformations of the skull and facial bones
ICD-10 online (WHO version 2019)

The acrania ( old Gr . Ακράνια .: "skulllessness") is a congenital developmental disorder in which part of the skull and the associated rind is missing.

distribution

The frequency is given as less than 1 in 1,000,000.

root cause

Acrania is considered to be a defect that arises after neural tube formation. A faulty migration of tissue parts is suspected, so that the skull bone is missing with preserved skin.

The acrania is said to be the result of a number of different individual causes.

Clinical manifestations

Clinical criteria are:

Absence of parts of the scalp, the underlying cranial roof and the dura mater . The entire top of the skull can be affected.
Skull base and facial skull are normal.
Malformations of the brain such as holoprosencephaly or disorders of gyration can occur.

Depending on the extent of the defect, the children usually die shortly after birth.

diagnosis

The diagnosis can be made prenatal using fine ultrasound . Confirmation by magnetic resonance imaging to distinguish it from anencephaly or encephalocele is recommended.

literature

S. Jha, LJ Roberts: Acrania. In: Journal of Obstetrics and Gynaecology: the journal of the Institute of Obstetrics and Gynaecology. Vol. 23, No. 1, January 2003, ISSN 0144-3615 , p. 78, PMID 12647707 .
M. Rankine, E. Hafner, K. Schuchter, K. Philipp: The sonographic and endoscopic picture of exencephaly (acranius) in the 12th week of pregnancy. In: Journal of Obstetrics and Neonatology. Vol. 204, No. 6, 2000 Nov-Dec, ISSN 0948-2393 , pp. 236-238, doi : 10.1055 / s-2000-9585 . PMID 11199154 .
F. Theuring: Heterotopic brain tissue in the lungs in acrania with hemicephaly. In: Zentralblatt für Allgemeine Pathologie u. pathological anatomy. Vol. 111, No. 1, 1968, ISSN 0044-4030 , pp. 13-17, PMID 5198076 .

Individual evidence

↑ ^a ^b ^c ^d acrania. In: Orphanet (Rare Disease Database).
↑ R. Gorgal, C. Ramalho, O. Brandão, A. Matias, N. Montenegro: Revisiting Acrania: same phenotype, different aetiologies. In: Fetal diagnosis and therapy. Vol. 29, No. 2, 2011, ISSN 1421-9964 , pp. 166-170, doi : 10.1159 / 000320735 . PMID 21150156 .
^ MU Amin, R. Mahmood, M. Nafees, T. Shakoor: Fetal acrania - prenatal sonographic diagnosis and imaging features of aborted fetal brain. In: Journal of radiology case reports. Vol. 3, No. 7, 2009, ISSN 1943-0922 , pp. 27-34, doi : 10.3941 / jrcr.v3i7.271 . PMID 22470674 . PMC 3303320 (free full text).

[Orpha-1] acrania. In: Orphanet (Rare Disease Database).

[2] R. Gorgal, C. Ramalho, O. Brandão, A. Matias, N. Montenegro: Revisiting Acrania: same phenotype, different aetiologies. In: Fetal diagnosis and therapy. Vol. 29, No. 2, 2011, ISSN 1421-9964 , pp. 166-170, doi : 10.1159 / 000320735 . PMID 21150156 .

[3] MU Amin, R. Mahmood, M. Nafees, T. Shakoor: Fetal acrania - prenatal sonographic diagnosis and imaging features of aborted fetal brain. In: Journal of radiology case reports. Vol. 3, No. 7, 2009, ISSN 1943-0922 , pp. 27-34, doi : 10.3941 / jrcr.v3i7.271 . PMID 22470674 . PMC 3303320 (free full text).