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Congenital Abnormalities

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Arhinencephaly/holoprosencephaly » General Q87.0

Definition:

A congenital malformation of the brain, characterized by various degrees of incomplete lobation of the brain hemispheres. Olfactory nerve tract may be absent. Holoprosencephaly includes cyclopia, ethmocephaly, cebocephaly, and premaxillary agenesis.
Notes:
It has no specific code in IDC10; cyclopia must be considered as Q87.0 “Syndromes with congenital malformations involving predominantly the face”.
The memorable work of De Myer et al in 1963 suggest that face predicts the brain and despite nowadays there are cases that are an exception for the rule, De Myer’s axiom is still a useful semiological tool in facilities without diagnostical images availability.
Extracted from
DeMyer, W. E., Zeman, W., Palmer, C. G. Familial alobar holoprosencephaly (arhinencephaly) with median cleft lip and palate: report of patient with 46 chromosomes. Neurology 13: 913-918, 1963. [PubMed: 14079950]
http://www.ncbi.nlm.nih.gov/omim/236100
DeMyer et al. (1963). Noted that there is a spectrum of holoprosencephalic disorders representing impaired midline cleavage of the embryonic forebrain. Cyclopia, the most extreme form, is characterized by a single eye globe with varying degrees of doubling of intrinsic ocular structures, arrhinia, and a blind-ending proboscis located above the median eye. In ethmocephaly, the features are extreme orbital hypotelorism, arrhinia, and a blind-ended proboscis located between the eyes. In cebocephaly, orbital hypotelorism is associated with single-nostril nose. Premaxillary agenesis is characterized by a median pseudocleft, agenesis of nasal bones and primary palate, and ocular hypotelorism.
Images:
Image 1
1. Cyclopia
2. Cyclopia with proboscis
3. Cyclopia
4. Cyclopia with proboscis
5. Cyclopia with proboscis
6. Cyclopia with proboscis
7. Ethmocephaly
8. Cebocephaly
9. Cebocephaly
10. Premaxillary agenesis
11. Premaxillary agenesis
12. Median cleft lip
13. Unilateral cleft lip
14. Bilateral cleft lip
15. Absence of the superior labial frenulum
16. Solitary median central maxillar incisor

Notes:

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Images