DANIL HAMMOUDI.MD

SINOE MEDICAL ASSOCIATION

 

COMMON CONGENITAL ANOMALIES OF THE CARDIO VASCULAR SYSTEM:

 

ETIOLOGY FACTORS:             +++DISORDERS OF CHROMOSOMAL NUMBER

                              +++FAMILIAL DISORDER

                              +++TERATOGENIC VIRAL INFECTION ,RUBELLA

 

 

COMMON CONGENITAL HEART DEFECTS:

                              +++ATRIAL SEPTAL DEFECTS:

                                          ***PROBE PATENCY OF THE FORAMEN OVALE

                                          ***LEFT TO RIGHT SHUNTING

                              +++VENTRICULAR SEPTAL DEFECTS

                              +++TTRALOGY OF FALLOT

                              +++TRICUSPID ATRESIA

                              +++PATENT DUCTUS ARTERIOSUS

 

DVLPT AND FATE OF THE AORTIC ARCHES:

BRANCHES FROM THE DORSAL AORTA:

                  +++INTERSEGMENTAL ARTERIES:SUPPLY THE DVLPING MUSCULOSKELETAL SOMITES DERIVATIVES AND LIMBS

                  +++VITELLINE ARTERIES:  SUPPLY THE YOLK SAC

                  +++UMBILICAL ARTERIES:  SUPPLY THE DVLING VISCERAL ORGANS AND THE PLACENTA

 

AORTIC ARCH:      1ST: MAXILLARY ARTERY

                  2ND: STAPEDIAL ARTERY

                  3RD: COMMON CAROTID ARTERY

                        PROXIMAL PART OF INTERNAL CAROTID ARTERY

                  4TH : LEFT: AORTIC ARCH

                        RIGHT:PROXIMAL PART OF RIGHT SUBCLAVIAN ARTERY.

                  6TH: PROXIMAL PART OF PULMUNARY ARTERY

                        LEFT ONLY :DUCTUS ARTERIOSUS

DEVELOPMENT OF ABDOMINAL ORGANS:

1/DIGESTIVE SYSTEM:

 

ENTODERMAL FOREGUT GIVES:           +++PHARYNX

                                    +++ESOPHAGUS

                                    +++STOMACH

                                    +++LIVER

                                    +++PANCREAS

                                    +++PART OF DUODENUM.

 

MIDGUT :                            +++SMALL INTESTINE

                                    +++ASCENDING COLON

                                    +++2/3 OF THE TRANSVERSE COLON.

 

HINDGUT:                            +++REST OF THE LARGE INTESTINE AS FAR AS THE UPPER PART OF THE ANAL CANAL.

 

THE LOWER PART OF THE RECTUM AND MUCH OF THE ANAL CANAL IS ETABLISHED BY THE SEPARATION OF THE CLOACA INTO A DORSAL ANORECTAL CANAL AND VENTRAL UROGENITAL SINUS BY THE URORECTAL SEPTUM.

 

THE REST OF THE ANAL CANAL DEVELOPS FROM AN ECTODERMALLY LINED ANAL PIT .

 

THE STOMACH APPEARS IN THE FOURTH EMBRYONIC WEEK AS A DILATION OF THE FOREGUT .

 

THE INTESTINES DEVELOP FROM A CAUDAL PART OF THE FOREGUT AND THE CEPHALIC AND CAUDAL LIMBS OF A MIDGUT LOOP THAT EXTEND INTO THE BELLY STALK.

 

PARTIAL PERSISTANCE OF THE YOLK STALK MAY REMAIN AS A MECKEL'S DIVERTICULUM ATTACHED TO THE ILEUM 40CM TO 50CM FROM THE ILEOCOLIC JUNCTION.

 

THE PANCREAS  FORMS FROM DORSAL AND VENTRAL ENTODERMAL BUDS LOCATED AT THE LEVEL OF THE DUODENAL.

 

DVLPT OF THE ABDOMINAL MESENTERIES AND SPLEEN:

 

The abdominal mesenteries dvlp primarily from the embryonic dorsal mesentery .

ventral mesentery  may give rise to the lesser omentum  and the falciform ligament.

dorsal mesogastrium fuses with the embryonic transverse mesocolon to form definitive mesentery of the transverse colon and then drapes over the small intestine to become the greater omentum ..

 

the spleen develops from mesoderm of the dorsal mesogastrium .

 

most of the dorsal mesentery of the duodenum fuses with the dorsal  body wall ,making it and the pancreas secondarily retroperitoneal .

 

the dorsal mesentery of the jejunum and ileum becomes the mesentery proper .

 

 

CONGENITAL MALFORMATIONS OF THE UROGENITAL SYSTEM:

 

***HORSESHOE KIDNEY

***BIFID URETER

***EXTROPHY OF THE BLADDER

***CONGENITAL HYDROCOELE

***HYPOSPADIAS

***IMPROPER FUSION OF THE MULLERIEN DUCTS

***DOUBLE VAGINA

***PSEUDOHERMAPHRODISM

***TESTICULAR FEMINIZATION

***ADRENOGENITAL SYNDROME

 

1. HORSESHOE KIDNEY

FUSION OF THE CAUDAL ENDS OF THE TWO KIDNEYS ACROSS THE MIDLINE.

OCCUR IN THE CRANIAL MIGRATION OUT OF THE PELVIS OVER THE  THE UMBILICAL ARTERIES.

 

2.BIFID URETER

PREMATURE DIVISION OF THE URETERIC BUD.

 

 

3.EXTROPHY OF THE BLADDER

CAUSED BY FAILURE OF MESODERM TO INVADE THE AREA ANTERIOR TO THE DEVELOPPING BLADDER.

THIS RESULT IN IMPROPER DEVELOPMENT OF THE ANTERIOR ABDOMINAL WALL AND BLADDER WITH EXPOSURE OF THE POSTERIOR MUCOSAL WALL TO THE OUTSIDE.

 

4.CONGENITAL HYDROCOELE

COLLECTION OF FLUID IN A REMNANT OF THE PROCESSES VAGINALIS.

 

 

5.HYPOSPADIAS

IMPROPER CLOSURE OF THE UROGENITAL FOLDS OR LABIOSCROTAL SWELLINGS .

FAILURE OF THE OUTER ECTODERMAL CELLS TO GROW INTO THE GLANS AND JOIN THE PENILE URETHRA

 

6.IMPROPER FUSION OF THE MULLERIEAN DUCTS

ABNORMALITIES OF THE UTERUS.

 

 

***ADRENOGENITAL SYNDROME

GENETIC ABNORMALITY RESULTS IN ABSCENCE OF AN ENZYME NECESSARY FOR THE PRODUCTION OF HYDROCORTISONE.

RESULT : OVERPRODUCTION OF ANDROGENS

      HYPERTROPHY OF CLITORIS

      FUSION OF THE LABIA MAJORA

 

MESODERM:

SOMITES : DETERMINATED THE AGE

***1ST SOMITES PAIR : 20 DAYS AFTER FERTILIZATION

3SOMITES:         21

30-35 SOMITES:    30-35 DAYS

 

IN THE END :42-44 PAIRS OF SOMTES FORM:

      ***4 OCCIPITAL PAIRS    ***8 CERVICAL PAIRS

      ***12 THORACICS PAIRS

      ***5 LUMBAR PAirs

      ***5 SACRAL PAIRS

      ***8-10 COCCYGEAL PAIRS

 

SCLEROTOME [INNER SOMITES CELLS]===> AXIAL SKELETON   ===>VERTEBRAL STRUCTURE

                                                      ===>RIBS

                                                      ===>LIGAMENTS

 

DERMOMYOTOME [OUTER SOMITES CELLS]===>DERMAL CONNECTIVE TISSUS

                                  ===>MUSCLES ASSOCIATED BODY SEGMENTS

 

METAMERIC OR SEGMENTAL ARRANGEMENT ===>HEAD

                                   ===>LIMBS

 

INTERMEDIATE MESODERMIUM===>UROGENITAL SYSTEM

 

LATERAL PLATE MESODERM====> CYSTIC VESICLES===>INTRA EMBRYONIC COELUM==>INTERNAL BODY                                                                             CAVITIES

                                                                        ||

                                                                        ||

                                                                        ||         

                                                            ||          ||          ||

                                                      PERICARDIAL    PLEURAL  PERITONEAL

                                                      CAVITY         CAVITY   CAVITIES

 

 

SOMATOPLEURIC LAYER [SOMATIC MESODERM]===>CONNECTIVE TISSUE

                                      ====>MUSCLES

 

                                          ________________________

                                          |                         |

SPANCHNOPLEURIC LAYER [SPLANCHNIC MESODERM]===>CONNECTIVE TISSUES

                                                                  ===>STOMACH

                                                                  {

                                                                            TRACHEA

                                          =====> MUSCLES

                                          |________________________|

                                                      ||

                                                      ||

                                                IN THE WALL

 

DVLPTS OF THE MUSCULOSKELETAL SYSTEM:

 

THE COMPOSITE OF CARTILAGE AND BONE:

 

      -ORIGIN:MESENCHYME CELLS:     ++++CHONDROBLASTS

                                    +++OSTEOBLASTS

BOTH CARTILAGE AND BONE CONTAIN:    +++CHONDROITIN SULFATE IN THE EXTRA CELLS MATRIX

                                    +++COLLAGEN             "" "          ""      """"""""

 

BONE : TYPE I COLLAGEN [2 a 1 chain]

                        [ 1

CARTILAGE :TYPE II COLLAGEN ===>3 a 1 [II CHAIN]

 

MAJOR CONSTITUENT OF COLLAGEN :III              MINOR CONSTITUENT OF COLLAGEN : VI

                                                IV                                                                 X

                                                V.

 

MOST OF THE SKELETAL SYSTEM DVLPS FROM INTRAEMBRYONIC MESODERM ,WHICH FORMS FROM THE EPIBLAST DURING GASTRULATION

 

EMBRYOLOGY ORIGIN:

                  HEPATOCYTES:            ENDODERMAL

                  BILE DUCT EPITHELIUM:   ENDODERMAL

                  HEPATIC ENDOTHELIAL CELLS AND KUPFFER'S CELLS:

                              = MESODERMAL ORIGIN.

 

STRUCTURE GIVES RISE TO THE STAPES:

SECOND PHARYNGEAL ARCH

THE CARTILAGE OF THE SECOND OR HYOID ARCH [REICHERT'S CARTILAGE] GIVES RISE TO THE STAPES.

RISE TO THE STYLOPHARYNGEAL MUSCLE:

THIRD PHARYNGEAL ARCH

 

THE SUPERIOR PARATHYROID GLAND:

FOURTH PHARYNGEAL PUCH

 

THE MALLEUS AND INCUS :

FIRST PHARYNGEAL ARCH

 

THE THYROID , ARYTENOID, CORNICULATE , CUNEIFORM CATILAGE OF THE LARYNX:

FOURTH AND SIXTH PHARYNGEAL POUCH

 

THE AUDITORY TUBE:

FIRST PHARYNGEAL POUCH

 

MUSCLE OF THE FACIAL EXPRESSION

SECOND PHARYNGEAL ARCH

THE MUSCLES OF THE HYOID ARCH ARE : *STAPEDIUS *STYLOHYOID *POSTERIOR BELLY OF THE DIGASTYRIC *AURICULAR *MUSCLE OF THE FACIAL EXPRESSION

 

MUSCLE OF MASTICATION

FIRST PHARYNGEAL ARCH

 

THYMUS

THIRD PHARYNGEAL POUCH

 

THE ANTERIOR THREE THIRD OF THE TONGUE:

FIRST PHARYNGEAL ARCH

 

 

ADULT OR EMBRYONIC STRUCTURE ARE DERIVATIVES OF THE SECOND PHARYNGEAL ARCH SYSTEM:

                        ***THE ORBICULARIS OCULI MUSCLE

                        ***REICHERT'S CARTILAGE

                        ***THE STAPES

                        ***THE LESSER HORN OF THE HYOID BONE

 

CONGENITAL DISEASE INFECTIOUS:

1/CRI DU CHAT: RARE

                  CHROMO 5

                  MICROCEPHALY - MENTAL RETARDATION - CV DEFECT - PECULIAR - CAT LIKE CRY

2/ RUBELLA VIRUS = GERMAN MEASLES

                  1TH TRIMESTER [4TH- 8TH WEEK OF PREGNANCY]

                  CATARACT - PATENT DUCTUS ARTERIOSUS - HEARING DUCTUS - MENTAL RETARDATION- INTRAUTERINE GROWTH RETARDATION

3/CYTOMEGALOVIRUS: = CYTOMEGALIC INCLUSION DISEASE  ==> CNS DEFECT

                                                        SMALL BRAIN

                                                        PERIVENTRICULAR CALCIFICATION

4/ HERPES SIMPLEX = CONGENITAL HERPES INFECTION

5/ TOXOPLASMA GONDII: MENTAL RETARDATION- MICROPHTALMIA - CHORIORETINITIS - HYDROCEPHALUS - HYDROCEPHALY - CALCIFICATION AROUND CHOROID PLEXUS

MEDICAL TERATOGENE :    ***PHENYTOIN

                        ***PHENOTHIAZINE

                        ***LITHIUM

                        ***DIAZEPAM

                        ***THALIDAMIDE : PHOCOMELA - AMELIA

                        ***AMINOPTEIN [FOLIC ACID AGONIST]

 

SYNTHETIC PROGESTIN :MASCULINIZING EFFECT ON THE EXTERNAL GENITALIA OF FEMALE EMBRYON

 

DIETHYLSTILBESTROL [DES] : GYNECOLOGIC KC IN THE DAUGHTERS OF WOMEN TREATED WITH DES DURING PREGNANCY.

 

COMGENITAL DISEASES DETECTABLES BY AMNIOCENTESIS:

            ***NEURAL TUBE DEFECT : ALPHA FP

            ***ANEUPLOIDY     : KARYOTYPE

            ***INHERITED METABOLIC DISORDER:

                        +++WITH CULTURE + BIOCHEMITRY: TAY SACHS DISEASE =AUTOSOMAL RECESSIVE DISORDER [GLYCOLIPID METABOLISM] ==> DETECT ADULT ---> HEXOSAMINIDASE ASSAY

 

SICKLE CELL ANEMIA= AUTOSOMAL RECESSIVE TRAIT

                        VALINE REPLACE THE NL GLUTAMIC ACID ON 6TH AA [BETA CHAIN]

 

THALASEMIA : AUTOSOMAL RECESSIVE MUTATION

 

PHENYLKETONURIA : AUTOSOMAL RECESSIVE MUTATION

                  DEFICIT PHENYLALANINE HYDROXYLASE

 

CYSTIC FIBROSIS:  LETHAL GENETIC DISEASE

                  MOST COMMON

                  AUTOSOMAL RECESSIVE MUTATION

 

ADULT POLYCYSTIC KIDNEY DISEASE : AUTOSOMAL DOMINANT TRAIT.

 

AUTOSOMAL DOMINANT MANDELIEN:       ***MARFAN SYNDROME

                                    ***ACHONDROPLASIA

                                    ***OSTEOGENESIS IMPERFECTA

 

EDWARDS SYNDROME: ***TRISOMY 18 : CV-GI MUSCULOSKELTTAL DEFECT

                                  OCCIPITAL LOBE IS ALSO UNUSUALLY PROMINENT IN THE CHILDREN

                                  SMALL BORN AND THIN

                                  LOOSE SKIN ==> FAILURE OF ACCUMULATION OF SUBCUTANEOUS ADIPOSE TISSUE.

 

PATAU SYNDROME:   ***TRISOMY 13     MICROPHTALMIA

                                    COLOBONIA [EYES]

                                    CLOUDY CORNEAS = CYCLOPIA

                                    NEURAL TUBE DEFECT :    ANENCEPHALY

                                                            MYELOMENINGOCELE

                  CONGENITAL ANOMALIES CAUSED BY MULTIFACTORIAL INHERITENCE

 

CONGENITAL ANOMALIES CAUSED BY MULTIFACTORIAL INHERITENCE:

-NEURAL TUBE DEFECT :   ANENCEPHALY

                        MYELOMENINGOCELE

-CLEFT LIP AND PALATE

-CV ANOMALIES

-TRACHEOOESOPHAGEAL FISTULA

-PYLORIC STENOSIS

-OMPHALOCELE

-HORSES SHOE KIDNEY

-BLADDER EXTROPHY

-CRYPTOCHIDINI

-HIPDYSPLASIA