A SHORT PRESENTATION ON CRANIOFACIAL ANOMALIES . ANCHORED ON A RESEARCH PAPER BY DR A. ODHIAMBO. THIS WAS PRESENTED IN A JOURNAL CLUB MEETING OF THE ORAL AND MAXILLOFACIAL SURGERY RESIDENTS AT THE FACULTY OF DENTAL SCIENCES OF THE UNIVERSITY OF NAIROBI.

1. CRANIOFACIAL ANOMALIES
Dr KIRIMI
Moderator – Dr ODHIAMBO
03/02/2014

2. BACKGROUND
• Craniofacial anomalies (CFA) are a highly
diverse group of complex congenital
anomalies.
• Collectively they affect a significant proportion
of the global society.
• The prevalence of individual conditions varies
considerably across geographic areas and
ethnic groupings.

3. EXAMPLES

4. BACKGROUND
• Congenital anomalies (CA) are a major cause of
infant mortality and childhood morbidity,
affecting 2-3% of all babies.
• Approximately 1% of these newborns have
syndromes or multiple anomalies; Craniofacial
anomalies (CFA) are often a component part.
• Oral clefts (OC) are among the most widely
known and common CFA, occurring in
approximately 1/700 live births. 1 child every 2 ½
minutes is born with a cleft somewhere in the
world.

5. EMBRYOLOGY

6. Face Embryology

8. ETIOPATHOGENESIS
• Genetics v/s enviromental influences
• Genetic causes
Chromosomal anomalies
Numerical e.g. Down syndrome /Trisomy 21
Structural; deletions, insertions, translocation.
Single gene abnormalities (Monogenic)
Autosomal dominant e.g. Apert syndrome
Autosomal recessive e.g. Meckel syndrome
Sex-linked e.g Oro-facial digital syndrome.

9. Etiopathogenesis II
• Enviromental causes
Teratogenic exposure
Infections – rubella, CMV, Syphillis
Chemicals - alcohol, cigarette smoking
Drugs – thalidomide
Physical agents – diagnostic x-rays
Maternal factors – maternal DM, PKU

10. Etiopathogenesis III
• Multifactorial
Genetic and enviromental factors together.
More common than monogenic or
chromosomal anomalies.
Poorly understood.
Examples include neural tube defects and
CL/P.

11. GLOBAL EPIDEMIOLOGY - selected

12. WHO PERSPECTIVES
• Report of WHO meetings on International
Collaborative Research on Craniofacial
Anomalies Geneva, Switzerland, 5-8 November
2000.
• Global registry and database on craniofacial
anomalies Report of a WHO Registry Meeting
on Craniofacial Anomalies Bauru, Brazil, 4-6
December 2001.

13. ARTICLE DISCUSSION
A. Odhiambo et al
Craniofacial anomalies amongst births at two
hospitals in Nairobi, Kenya. Int. J. Oral
Maxillofac. Surg. 2012; 41: 596–603.

14. METHODOLOGY
• BROAD OBJECTIVE
To document the pattern of occurence of CFAs in
two hospitals in Nairobi over 4 ½ months period.
• MATERIALS AND METHODS
A descriptive cross sectional study of the
incidence of clinically manifest CFAs at birth.
At the two largest “delivery centres“ in Nairobi.

15. MATERIALS AND METHODS -cont
• Kenyan mothers at 20 weeks or more
gestation and babies at least 500g birth
weight.
• Systemic examination done by midwives
trained by the principal investigator (PI).
• Still births included.
• Each malformation counted once.

16. RESULTS
• Findings:
7989 births over 4 ½ months period
CFA were 1.8% (146) : F=1.4% M=1.0%
12.8% of 366 still-births had CFA: F=16.7%
M=6.9%
Commonest CFA were as follows;
Periauricular sinus at 4.3/1000 births
Hydrocephalus at 1.9/1000 births
Periauricular tags at 1.5/1000 births
Cleft lip and palate at 1.3/1000 births

17. AURAL ANOMALIES
• Aural anomalies
formed 44.5% of the
CFAs and occurred at a
rate of 8.1/1000 of the
total births,
• Preauricular sinus was
the most common
minor anomaly.

18. Distribution of births by hospital,
gender and birth status.

19. Distribution of anomalies according to
birth weight of babies

20. CONCLUSION
• This study, like those of Scheinfeld et al and
Kohelet and Arbel, found preauricular sinus to
have been the most common minor CFA.
• No significant difference in the effect of
increased maternal age in the overall
incidence of congenital malformations.
• In summary, the epidemiology of CFAs in the
Kenyan population correlates well with that in
the rest of the world.

21. SHORTCOMINGS
• Inclusion criteria – 20 weeks gestation, Kenyan
citizenry of the mother, and stillbirths.
• Examination of babies not done by PI.
Authors acknowldeges one-off examination as a
drawback.
• Handling of multiple malformations.
• Not sufficient to make inferences to Kenyan
population.
• Etiology not pursued. ? Risk factors – FAS.

22. THANK YOU FOR YOUR TIME
THE END. . . . . . . . ?????????