1. In-je University College of Medicine
출산 결함
Department of Anatomy
In-je University College of Medicine

2. Congenital malformation
Birth defect
Congenital anomaly
Congenital malformation
구조적, 기능적, 대사성, 행동적, 유전적인 면에 있어서의 결함
국제질병분류 (International Classification of Diseases; WHO 1975)

3. Cause of congenital anomalies
Incidence : 2- 5 % of newborn (USA ; 3%)
8% by age 5
Perinatal deaths : 20 %

4. Type of congenital anomalies
Malformation : by abnormal primordium (내인성 이상형성)
Disruption : by external factor (외인성 이상형성)
Deformation : by mechanical factor (형태, 위치의 이상)
Dysplasia : by abnormal histogenesis (조직구성수준의 장애)
partial or complete alterations in the normal structure.
occurs in the 3rd to the 8th week of gestation.
Ex) Cleft lip, cleft palate.
morphological change of the already formed structure due to
exposure to destructive process (; teratogen).
Ex) Vascular accidents  bowel atresias
affect a part of the fetus over a long period.
Ex) talipes equinovarus deformity

5. Congenital anomaly by genetic factors
1. Numerical Chromosomal abnormalities
2. Structural chromosomal abnormalities
3. Anomalies caused by mutant genes

6. 1. Numerical Chromosomal abnormalities
The normal human cell
; 46 chromosomes autosomes sex chromosomes (XX or XY)
1. Monosomy (45 chromosomes):
(Ex)
Turner syndrome (44X): 1/8000 birth
Absent 2nd X chromosome.
Short stature
Lack of ovarian development
Webbed neck
Arms that turn out slightly at the elbow
Low hairline

7. 2. Trisomy (47 chromosomes):
It is due to meiotic nondisjunction of chromosomes resulting in a gamete with 24 instead of 23 chromosomes and subsequently in a zygote with 47 chromosomes. It may affect sex chromosomes or autosomes.
(Ex)
Down syndrome (trisomy 21)
Edwards syndrome (trisomy 18)
Patau syndrom (trisomy 13)
: 1/800 birth
: 1/8000 birth
: 1/25000 birth

8. Down syndrome : trisomy 21
oblique eye fissures with small skin folds on the inner corner of the eyes.
muscle hypotonia, a flat nasal bridge, a single palmar fold, a large and protruding tongue, a short neck, white spots on the iris.
congenital heart defects, excessive space between large and second toe, and a single flexion furrow of the fifth finger.
mental retardation

9. Edwards syndrome (trisomy 18)
Clenched hands with overlapping fingers. The fifth finger lies on top of the fourth finger while the third finger is overlapped by the index finger.
Delays in development and growth
A disorder of the muscle that leads to several joint contractures
A small head

10. Patau syndrom (trisomy 13)
; note cleft lip & palate, polydactyly (excess finger), umbilical hernia

11. Sex chromosome XXX : super female syndrome XXY : Klinefelters syndrome
(1/960 birth)
XXY : Klinefelters syndrome
(1/1080 birth)
Patients with triple X are infantile
Scanty menses
Some degree of mental retardation

12. 3) Tetrasomy & pentasomy of sex chromosomes:
In females
: 48(44,XXXX) & 49(44,XXXXX).
In males
: 48(44,XXXY, 48(44,XXYY), 49(44,XXXXY)
& 49(44,XXXYY).
pentasomy

13. 2. Structural chromosomal abnormalities
It results from chromosome break down followed by reconstitution in abnormal combination:
Translocation: 염색체의 일부분이 비상동 염색체로 이동
Deletion: 염색체의 일부분 소실
Duplication
Inversion
Isochromosome 5

14. 3. Anomalies caused by mutant genes
It result from permanent heritable changes in the sequence of genomic DNA
(Ex)
“achondroplasia (연골무형성증)”
Short stature
Short limbs, fingers & toes.
Large head, with depressed nasal bridge & prominent forehead.
Normal length of the trunk.

15. Congenital anomaly by Teratogenic (environmental) factors
Infectious agents
Radiation
Chemical Agents
Hormones
Maternal Disease
Nutritional Deficiencies
Hypoxia

16. 1. Drugs a) Alcohol: → Produces Fetal Alcohol Syndrome(FAS)
For example
a) Alcohol:
→ Produces Fetal Alcohol Syndrome(FAS)
→ the infant has:
- Microcephaly
- Narrow palpebral fissure
- Mental & growth retardation.
- Big tongue & depressed nasal bridge
Facies: small eye openings and vision anomalies, drooping eyelids, short upturned nose, sunken nasal bridge, low-set or underformed ears

17. b) Thalidomide: c) Androgens:
Produces limb defects as Meromelia (small limb) & Amelia (absent limb).
c) Androgens:
They affect female fetus producing masculinization of the external genitalia
resulting in:
Enlarged clitoris,
Fused labia majora
Meromelia
Labia majora
Clitoris

18. 2. Infectious agents Cataract Glaucoma a) Viruses:
- Rubella (German measles) virus may
result in congenital cataract or glaucoma
- Herpes simplex & human HIV
b) Bacteria: (Ex) spirochetes may cause
congenital syphilis
c) Parasites: (Ex) toxoplasmosis
Spirochetes
Toxoplasmosis

19. 3. 기타
3) Chemicals:
Heavy metals (Ex. methyl mercury) → cerebral atrophy & mental retardation.
4) High level of ionizing radiation:
→ microcephaly & mental retardation.
5) Maternal diseases:
(Ex) diabetes mellitus
6) Antibiotics
; tetracycline, streptomycin
7) Radiation

20. 출생시 기관별 주요 이상 빈도

21. 사람발생에 있어 결정적 시기

22. Critical period