Causes of Malformations ( Teratogenesis or Dismorphology )
description
Transcript of Causes of Malformations ( Teratogenesis or Dismorphology )
![Page 1: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/1.jpg)
![Page 2: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/2.jpg)
Causes of Malformations(Teratogenesis or
Dismorphology)? ??
Presented by Dr Sadatinejad, Seyyed Mohsen,student of Medicine from Iran,Kashan 19/12/2012
![Page 3: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/3.jpg)
Birth defect
Congenital malformation
Congenital anomaly
(Hereditary) abnormality
![Page 4: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/4.jpg)
Types of Abnormalities :
• Malformation• Disruptions• Deformations• Syndromes
• Minor anomalies• Major anomalies
![Page 5: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/5.jpg)
Principles of Teratology- پاسخ )آسیب پذیری( جنین و مادر به عامل تراتوژن1 - مرحله تکاملی جنین2
)Developmental stage at the time of exposure(- دوز و مدت زمان تماس با عامل تراتوژن3
(Dose and duration of exposure to a teratogen)- طریقه عمل تراتوژن : تغییرات در سطح سلولی و مولکولی4- نتیجه تراتوژن : مرگ، ناهنجاری، عقب ماندگی رشد، بیماری های 5
عملکردی
![Page 6: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/6.jpg)
Hereditary )Genetic( causes 15-18%Environmental factors 7-10%Multifactorial 25%Unknown 50%
![Page 7: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/7.jpg)
First week )Resistant period( Embryonic period
Maximum susceptibility )organ morphogenesis( Fetal Period
Lowered Susceptibility )functional derangement(
![Page 8: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/8.jpg)
Genetic factors- اختالالت تعدادي كروموزوم 1•
)Numerical Chromosomal Anomalies()Polyploidyالف) پلي پلوئيدی (•
Triploidy 69 يك تخمك هاپلوئيد با دو اسپرم یا تخمک دیپلوئیدبا یک اسپرم
Tetraploidy 92 اولين كليواژ )Aneuploidyب) آنوپلوئيدی (•تريزومی
13تريزومي (Patau syndrome)18تريزومی (Edwards syndrome)
)Down syndrome( سندرم داون21تریزومی )Klinfelter syndrome-XXY(سندرم كالين فلتر
Triple X )Superfemale(مونوزمی
(Turner syndrome- XO)سندرم ترنر
![Page 9: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/9.jpg)
Patau Syndrome1/20000
cleft-lip-baby
![Page 10: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/10.jpg)
Edwards Syndrome1/5000
![Page 11: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/11.jpg)
Maternal nondisjunction (95%)MosaismTranslocation
Down syndrome
![Page 12: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/12.jpg)
• Monosomy• Nondisjunction in sperm
80%• Struc X• Nondisjunction in mitosis
(Mosaism)
![Page 13: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/13.jpg)
ناهنجاري هاي ساختماني كروموزوم - 2••)Structural Chromosomal Anomalies(
• Isochromosome• Crossing over :
• Translocation21,13,14, 15 in Down syndrome
• Partial Deletion Cri du chat 5)microcephal, mental, cardiovas(
• Microdeletion Angelman 15 )speech, mental, movement( Prader- willi 15 )fatty, mental, hypogonad(
• Inversion
![Page 14: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/14.jpg)
- ناهنجاري هاي حاصل از جهش ژنی 3•)Gene Mutation Anomalies(
• Marphan syndrome• Crigler-Najjar syndrome• Roberts syndrome• Alport syndrome• Aarskog-Scott syndrome• Savant syndrome• treacher-collins syndrome• Niemann–Pick disease• Cystic Fibrosis• DMD
![Page 15: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/15.jpg)
Environmental factors
• Infectious Agents (& other disease)
• Drugs Agents (& Hormonic Agents)
• Chemical Agents• Physical Agents
![Page 16: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/16.jpg)
• A( Viral infections• Rubella virus )German Measles( سرخجه ویروس
1month-From placenta- atrioventricular septsl defect, cataract. Weight ↓
• Cytomegalovirus)CMV( From Placenta,Cervix,Vagina )& Lactation( - microephaly, deafness, mental retardation, hepatospleenomegally ,cardiac defect,cerebral calcification, blue spot on skin
• Herpes simplex virus)HSV( From Placenta,Vagina)85%(- Defect in CNS,liver, pancreas,ren,suprarenal glands, infection on skin, Eyes or mouth – no treatment=40-50% death
• Varicella-zoster virus)VZV( مرغان آبلهFirst 3 month-From Placenta- limb hypoplasia & parasis., hydrocephaly. Mental retardation, cataract
• HIV After 35th week- Systematic Chronic
infection)fangus,bacterial,viral,protozoan(
Infectious Agents
![Page 17: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/17.jpg)
Infectious Agents• B( Nonviral infections
•Toxoplasma in each three munth -
death,microcephaly,hydroceohaly,cerebral calcification
•Treponema pallidum Syphilis, rhinitis,eye defect)cataract(,icterus,abnormal teeth,
splenohepatomegaly
![Page 18: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/18.jpg)
نcاcهcنcجcاcرcی cاcب cطcبcتcرcم cیcرcدcاcم cیcاcه cیcرcاcمcیcب• Desease
•Diabetes Coudal disgenesis, death
•PKUmental retardation, microcephaly, cardiac defect
• Nutrient deficiency Iodine deficiency coused cretinism
• ObesityONTD, cardiac defect, …
• Hypoxy
![Page 19: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/19.jpg)
Drugs AgentsCategory X drugs
Category D drugs
![Page 20: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/20.jpg)
Category X drugs
Thalidomide Aminopterin methotrexate Busulfan Phenytoin Triazolam Warfarin
Isotretinoin
ClomiphenDiethylstilbestro
l Ethisterone Norethindrone Nicotine Alcohol
![Page 21: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/21.jpg)
Category X drugs Thalidomide
antinauseant drug داروی ضد تهوعlimb defect (Amelia,Meromelia)Cardiac defectGIT atresyOptic & otic defect
![Page 22: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/22.jpg)
Category X drugs Thalidomide
![Page 23: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/23.jpg)
Category X drugsAminopterin MethotrexateBusulfan
Used in chemotererapy Dawerfism Myelomeningocele palate clef Growth retardation ophtalmic defect
![Page 24: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/24.jpg)
Category X drugsAminopterin MethotrexateBusulfan
Used in chemotererapy Dawerfism Myelomeningocele palate clef Growth retardation ophtalmic defect
![Page 25: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/25.jpg)
Category X drugsPhenytoin
Antileptic drug microcephalyGrowth & mental retardationpalate clefFinger & nail HypoplesiaSkull defect
![Page 26: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/26.jpg)
Category X drugsWarfarin
Anti couagulant drug Mental retardation microcephaly optic n. atrophy Fetal bleeding
![Page 27: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/27.jpg)
Category X drugsClomiphen
Non-steroidal drug Used for stimulus ovulation
Maybe Malformatin
![Page 28: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/28.jpg)
Category X drugs
Retinoids (vitamin A)
Used for Cystic aknesevere craniofacial defects cardiac defectsneural tube defects )NTD(Palate cleft
tretinoin (Retin-A)
isotretinoin, 13-cis-retinoic acid
![Page 29: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/29.jpg)
Category X drugsNicotine
Mental retardation Wheight loss Fetal Hypoxy Premature Parturition
![Page 30: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/30.jpg)
Category X drugsAlcohol Fetal Alcholic Syndrome (FAS) Mental retardation microcephaly Cardivascular defect Limb & Face malformation Hairsutism
![Page 31: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/31.jpg)
Category D drugs
Tetracycline
doxycycline
Streptomycin
Phenobarbital
Pentobarbital
Valsuroic acid
Diazepam
lorazepam
Lithium
Hydrochlorothiazid
e
![Page 32: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/32.jpg)
Category D drugs
Phenobarbital & Pentobarbital
paliative drug Fetal malformation
![Page 33: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/33.jpg)
Category D drugs
Diazepam, Lorazepam , Chlorodiazepoxide
antianxiety drug palate & lip clef specially in first 3 munth
![Page 34: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/34.jpg)
Category D drugs
Lithium ,Phenothiazine
AntiedepressiveCardioVascular defect
![Page 35: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/35.jpg)
Chemical Agents(heavy metals)
Organic mercury Blindness, deaf, cerebral pulsy (c.p)
Leadmental retardation, death of fetus
Poly chlorin biphenyil & Pentobarbital mental retardation, gingiva hyperplasia, exophthalmos, skull calcification, brown pigment in skin
Potassium iodideused as contrastment substance. mental retardation, goiter
![Page 36: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/36.jpg)
Physical AgentsIonizing Radiation
Acute high dose (over 250 rads)
Microcephay,spina bifida,palate cleft, limb defect
Hyperthermiaanencephaly,spina bifida, mental retardation,
facial malformation, cardiac defect, limb defect
![Page 37: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/37.jpg)
Male-mediated Teratogenesis Chromosomal defects & Mutation in germ cells
Environmental agent : transmission of paternal mediated toxicity through seminal fluid
![Page 38: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/38.jpg)
Ultrasonography Maternal Serum Screening )AFP,hCG( AFP : Trisomy↓- NTD,GIT atresia,amniotic band↑
Amniocentesis Chorionic Villus Sampling )CVS(
Prenatal Diagnosis
![Page 39: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/39.jpg)
Fetal Transfusion Fetal Medical Treatment Fetal Surgery Stem Cell Transplantation and Gene Therapy
Befor 18th week )activation of immune system(
Fetal Therapy
![Page 40: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/40.jpg)
![Page 41: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/41.jpg)
![Page 42: Causes of Malformations ( Teratogenesis or Dismorphology )](https://reader036.fdocuments.us/reader036/viewer/2022081417/568166e4550346895ddb1c97/html5/thumbnails/42.jpg)