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HIGH YIELD EMBRYOLOGY

EARLY EMBRYOLOGY
Teratogen Capacitation interaction Dizygotic (fraternal) twins – arises from multiple ovulations (high levels of FSH) Monozygotic (identical) twins – arise from splitting of a single zygote Human chorionic gonadotrophin (hCG) – secreted by syncytiotrophoblast Progesterone – secreted by corpus luteum for five months, then by placenta; contraceptive “pill” and RU-486 are anti-progesterones Gastrulation – process where the epiblast gives rise to mesoderm, endoderm and ectoderm Notochord – derives from both endoderm and mesoderm; forms the nucleus pulposus Alpha-fetoprotein – liver glycoprotein; leaks into amniotic fluid with neural tube or ventral wall defects – substance affecting migration, proliferation or interaction of cells; an environmental cause of congenital anomalies – pruning of the sperm glycocalyx; permits the sperm-oocyte

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Ectopic pregnancy – involves ~2% of all pregnancies and 95% occur in the uterine tubes Placenta previa – implantation of the placenta over or near the internal os of the cervix 3. Placental abruption – placenta becomes disconnected from the uterine wall 4. Placenta accreta – the placenta adheres to the myometrium 5. Placenta percreta – penetrates the full thickness of the myometrium and fails to separate from the uterine wall 6. Erythroblastosis Fetalis (Hemolytic disease of the newborn): occurs when there is a Rh incompatibility between mother and fetus – mom has to be exposed to fetal blood (tramua, birth); mom makes antibodies (IgG) against the fetal antigen and these antibodies can cross the placenta; if there is a future pregnancy with a Rh incompatibility, these antibodies can cross the placenta and attack fetal red blood cells, causing anemia and edema (fetal hydrops) 7. Hydatidiform mole - Occasionally the developing embryo dies and the chorionic villi fail to vascularize, resulting in the formation of a cystic swelling of the uterus (hydatidiform mole). Hydatidiform moles can reach various stages of development and typically produce excessive amounts of hCG. Complete moles (90% are 46, XX) are essentially a placenta without an embryo and have only paternal chromosomes, have high hCG, hypertension and bleeding. Complete hydatidiform moles present with vaginal bleeding, hyperemesis, “uterine enlargement greater than expected for gestational age”, pre-eclampsia and theca lutein cysts. Partial moles result from a poorly developed embryo and are always triploid (XXX, XXY or XYY), usually develop by fertilization of an oocyte by two sperm and involve at least some fetal tissue. Patients with partial moles will also have high hCG. 8. Holoprosencephaly results from the death of midline cells (alcohol) causes a deficiency of midline head structures 9. Situs inversus

Congenital malformations of muscle Muscular dystrophies – conditions that result in weakness and muscle atrophy Accessory muscles – abnormal splitting of myotomes • Poland anomaly – congenital absence of the pectoralis major • Congenital torticollis – contracture or shortening of the sternocleidomastoid 3. Congenital malformations of bone Achondroplasia .000). attributed to a fibroblast growth factor receptor deficiency 4.• • • • • • Complete – all organs are a mirror image of normal Incomplete – only a single organ is involved (e. Congenital malformations of the limbs . heart) 10.the cause of dwarfism (1 in 15. limbs are bowed and short. cleft sternum • Hemivertabrae – abnormal fusion resulting in misformed vertabrae • Accessory ribs/Fused ribs • Spina bifida occulta – incomplete neural arc. usually asymptomatic and accompanied by a patch of hair over the lesion • Klippel-Feil syndrome – short neck from reduced number of cervical vertebrae • Chordoma – remnants of the notochord may give rise to malignant tumors that invade bone. Sirenomelia caudal dysgenesis resulting from inadequate mesoderm in caudal regions limb defects. results from a disturbance of endochondral ossification at epiphyseal plates.limb defects are classified as either: amelia (absence of an entire limb or meromelia (absence of part of a limb) Cleft Hand or Foot Lobster claw deformity – fusion of digital rays Absence of central digits – fusion of digital rays Failure of digital rays to form – absence of digits Floating Thumb: absence of the metacarpal bone in the thumb.a lethal skeletal dysplasia (1 in 20.000 MUSCULOSKELETAL 1. hand deviates laterally Finger Anomalies: . urogenital defects 11. they develop at the base of the skull and in the lumbar region 2. Congenital malformations of the vertebral column • Scoliosis – abnormal curvature because of improper fusion or formation • Variations in the number of vertabrae – there can be additions or subtractions in the number of vertabrae • Sternum – pes excavatum. Thanatophoric Dysplasia . Sacrococcygeal teratoma results from the persistence of the primitive streak and pluripotent cells 1 in 37. infants die soon after death because of respiratory failure.000).g. phalanges are intact Congenital Absence of Radius: the radius fails to form.

associated with lower limb and bladder control problems D.the neural folds fail to fuse posteriorly and the spinal cord is open to the exterior 2. meninges and CSF Spina bifida with myeloschisis . Neural tube defects . as a result this part of the gut is non-peristaltic E. Macrodactyly: finger of adult size at birth. Issues related to the caudal neuropore: Spina bifida occulta – involves only the vertebral arch. incompatible with life outside the uterus. the extra digit is usually useless Syndactyly: this defect occurs 1 in 2200 and is characterized by the fusion of the digital rays. results in constipation. usually the only evidence is a small tuft of hair over the lesion Spina bifida cystica – vertebral arch defect + a cyst like mass Meningocele – only meninges Meningomyelocele – involves some neural tissue (rootlets). accompanied by elevated alphafetoprotein and polyhydramnios (the fetus lacks the control for swallowing) B.improper closing of the neural tube. indicates the region of closure of the caudal neuropore. the brain tissue in this region undergoes degeneration. this is often associated with short stature. Polydactyly: supernumery digits – extra division of digital rays. can be connected through a fibrous cord to the dura mater C. caused by the failure of the gut to become invaded by neural crest cells. Tethered Cord Syndrome – defect in secondary neurulation. usually diminish with age Congenital Clubfoot (Talipes): any defect involving the talus (1 in 1000). Craniopharyngiomas – arise from remnants of Rathke’s pouch. Hirschsprung’s Disease . prevented by folate 1. can be cutaneous (webbing of the digits) or osseous – fusion of bones.occurs in 1 in 5000 live births.results from a failure of the anterior neuropore to close. Issues related to the rostral neuropore: Meroanencephaly/Anencephaly . abdominal distension and rupture of the cecum. Congenital Dislocation of Hip: results from laxity of the joint capsule or underdevelopment of the acetabulum Genu Recurvatum: congenital hyperextension of the knee. the conus medullaris and filum terminale are abnormally fixed to vertebral column. associated with diabetes insipidus and visual deficits . vomiting. returns to normal alignment without intervention CENTRAL NERVOUS SYSTEM A. delayed passage of meconium. Spinal dural sinus – indicated by a dimple in the lumbar region. results from abnormal orientation of the foot that prevents normal weight bearing.Brachydactyly: the digits are relatively short. can be detected with amniocentesis (elevated alpha fetoprotein).

can occur with or without a fistula.neurons in the wrong location. This is a common cause of death to premature infants. Dandy-Walker – enlarged posterior fossa.esophageal atresia results from abnormal partitioning of the esophagus and trachea and involves a narrowing or closure of the esophagus. usually associated with ependyma I. a congenital constriction of the ventricular system can cause accumulation of CSF. absent cerebellar vermis replaced by midline cyst K. congenitally this occurs at the cerebral aqueduct.results from impaired circulation or absorption of CSF. associated with spina bifida cystica J.results from insufficient surfactant. Laryngotrachesophageal cleft: the larynx/trachea fail to completely separate from the esophagus. Microcephaly . Neuronal heterotopia . levels of severity: Meningocele – only meninges Meningoencephalocele – meninges and brain tissue Meningohydroencephalocele – meninges. smooth surfaced cortex H. allows structures to herniate out of the skull. causing alveoli to collapse during expiration. if multiple cysts form the lungs will have a honeycomb appearance Respiratory Distress Syndrome . further damage will result in detachment of the alveolar lining  this is called HYALINE MEMBRANE DISEASE (the desquamated cells look like hyaline . distinguished from fistulas by aphonia Tracheal diverticulum: a blind pouch projecting from the trachea Lobe of the azygous vein: in 1% of people the azygos vein creates a deep groove along the apex of the right superior lobe of the lung Congenital lung cysts: formed from dilation of terminal bronchi. brain and ventricle M. RESPIRATORY SYSTEM Atresia and Fistulas . Tissue damage results in cellular and serum proteins accumulating in the partially collapsed alveoli.results from a defect in the growth and development of the CNS – the brain fails to grow. most tracheoesophageal fistulas involve a proximal esophageal pouch and a distal esophagus that communicates with the airway. Agensis of the corpus callosum – associated with misshapen (bat-wing) lateral ventricles L. Schizencephaly – large clefts in cerebral hemispheres continuous with ventricles G. usually at the periphery of the lung. dilation of the ventricles and compression of the cerebral cortex.refers to a cranial defect in one of the thin bones of the skull. as a result these individuals experience severe mental handicaps. associated with polyhydraminos. Arnold-Chiari malformation – herniation of cerebellum through an enlarged foramen magnum. Cranium bifidum . the growth of the calvaria results from increased pressure caused by growth of the brain – so a small brain ceases to stimulate growth of the skull beyond some base level.F. N. Lissencephaly – decreased number of gyri. Hydrocephalus .

radial forearm anomalies L – limb defects CARDIOVASCULAR 1. Ectopia cordis: ventral wall defect where the heart is on the outside of the thorax 3.results from lobes of lung tissue arising from the trachea or esophagus. common atrium. Ebstein anomaly: improper formation of the tricuspid valve where the valves are partially fused to the ventricular wall. Atrial septal defects (ASD) . pulmonary hypertension leads to decreased blood flow through the lung [blood is shunted through a PDA] Accessory Lung: extra lung tissue. Premature closure of the oval foramen – leads to hypertrophy of the right atrium and ventricle and hypotrophy of the left chambers.typically involves the membranous portion of the septum. Ectopic Lung Tissue . defect in the endocardial cushions and sinus venosum.cartilage). the clinical consequences depend on the size of the defect: a large defect can cause left to right shunting of blood while a small defect may close spontaneously 6. Pulmonary valve stenosis/Atresia: 10. found usually along the base of the left lung but does not receive pulmonary vessels (instead gets systemic circulation) VACTERL association Esophageal atresia and Tracheoesophageal fistulas are commonly associated with other birth defects.the septum that normally divides the aorta and pulmonary trunk does not form properly 9. part of the right ventricle becomes “atrialized”. Dextrocardia: right-sided heart. Cor triloculare biventriulare – absence of a atrial septum resulting in a three chambered heart 7. characterized by reduced lung volume and hypertrophy of the smooth muscle in pulmonary arteries. Often cranial malformations are associated with caudal malformations: V – vertebral defects A – anal atresia C – cardiovascular anomalies T E – tracheoesophageal fistula R – renal defects. . Tricuspid valve stenosis/Atresia: 11.can involve a persistent ostium secundum. Ventricular septal defect . This can be addressed with surfactant replacement therapy and glucocorticoids to stimulate surfactant production. Transposition of the great vessels . Sudden infant death syndrome: possibly caused by abnormalities in the cardiac conducting system? 4. patient typically dies shortly after birth 8. situs inversus involves all organs in the body cavity 2. Hypoplasia – associated with congenital diaphragmatic hernias. probe patencies have an incidence of ~10% 5.

associated with polyhydraminos 5. results from a deficit between the sternal and costal heads of the diaphragm. constriction is proximal to DA with PDA – cyanosis in lower extremities. associated with rubella infection/birth at high altitude. due to a defect in the right crus and/or short esophagus. into the right ventricle and then through a patent ductus arterious into the systemic circulation. associated with projectile vomiting . Aortic Valvular atresia / stenosis 16.a common malformation of the newborn (1/2000). may be asymptomatic 18. indicated by cyanosis and heart failure. usually require surgical intervention without PDA – weak pulses in lower extremity. without surgical correction this condition is fatal 13. Persistent truncus arteriosus • conotruncal ridges do not fuse • accompanied by IV septal defect • the truncus gets blood from both ventricles 15. Tetralogy of Fallot – a group of four cardiac defects: pulmonary stenosis ventricular septal defect right ventricular hypertrophy dextroposition of the aorta – aorta gets blood from the right ventricle 14. Esophageal atresia .uncommon. most are directly opposite the ductus arteriosus post-ductal – adult. Parasternal Hernia . constriction is distal to DA pre-ductal – infantile. Patent ductus arteriosus – 2x more common in males. as blood returns from the lungs it must pass through an ASD to the right atrium. has a high rate of mortality because of pulmonary dysfunction. Hypoplastic left heart syndrome: poorly developed left ventricle. rib-notching. continuous machine-like murmur in the upper left sternal border 17. Abnormal origin of the right subclavian artery 19.common. Double inferior vena cava – persistence of left supracardinal vein. usually accompanied by a ASD 12. Congenital Diaphragmatic Hernia (Hernia of Bochdalek) . results from failure of the pleuroperitoneal membrane to close the pericardioperitoneal canal. the stomach is constricted at the level of the diaphragm or may herniate into thorax 3. results in obstruction and the stomach becomes distended. Congenital hypertrophic pyloric stenosis – thickening of the pylorus. may go undetected until the child is several years old 4. 2. may be mistaken for enlarged lumbar lymph nodes. Esophageal Hernia (Hiatal) . pulmonary embolism after insertion of an IVC filter GASTROINTESTINAL 1.Atresia – results from deviation of the tracheoesophageal septum so there is incomplete separation of the esophagus and trachea.accompanied by tricuspid regurgitation. most common (85-90%) on the left – left canal is larger and closes later. Coarctation of the aorta – characterized by a constriction of the aorta.

Accessory hepatic ducts – variations in the hepatic ducts are common 9. Accessory pancreatic tissue – located in the wall of the stomach or Meckel’s diverticulum (see below) b. covered by the amnion 12. males more commonly affected than females 11.failure of the midgut to return to the abdominal cavity after physiological herniation. Fistulas – involves improper formation of urorectal septum.failure of neural crest cells to migrate to the caudal 1/3 of the large intestine.milk curdled -duodenum . Pancreas a. Atresia • interruption of the gut tube • symptoms include vomiting: -esophagus . Annular pancreas . Imperforate anus – persistence of anal membrane d.ventral pancreatic bud encircles and constricts the duodenum. Wilm’s tumor – congenital tumor of the kidney . Hirschsprung’s Disease . Anal stenosis 20. Gastroschisis (Congenital Umbilical Hernia) . jaundice occurs shortly after birth and stool is “clay-colored” and urine is dark 10. rectourethral 19. Duodenal stenosis – usually results in bile containing vomit 7.bile URINARY 1. produces acid  ulceration and bleeding! • RULE OF 2’s:  affects 2% of population  found 2 feet from iliocecal valve  typically about 2 inches long  contains 2 types of ectopic tissue (stomach and pancreas)  age of presentation is typically 2 years of age  males are 2X more likely to be affected 15. Omphalocele . contains bile with distention of the epigastrium (double bubble sign) 8. Malrotation – the gut rotates the wrong way. involves a rupture of the amnion 14. Extrahepatic biliary atresia – most common form is atresia of the bile ducts. can form volvulus 17. Umbilical hernia – the protruding mass is covered by subcutaneous tissue and skin 13. Duodendal atresia – vomiting begins a few hours after birth.intestines herniate into umbilical cord after returning to the abdominal cavity. Meckel’s Diverticulum (~1/100) . the cecum ends up on the left side 16. rectovaginal.6. results in the absence of parasympathetic ganglia 18. Mobile cecum – cecum has a mesentery and is mobile.results from a persistence of the vitelline duct. Hindgut c.milk not curdled -gastric .

000).2. Urachal Fistula . Urachal sinus – the urachus remains open through the umbilicus. can be obstructed 11.female: epoophoron.As the kidney ascends towards the abdomen. associated with oligohydramnios. 8. Megaloureter: enlarged ureter with no motility. the kidney become very large and renal failure occurs. Gartner’s duct [Gartner’s cyst] · The paramesonephric ducts form: . Mullerian inhibiting factor prevents development of paramesonephric ducts · female – low level of testosterone prevents development of mesonephric ducts and no Mullerian inhibiting factor permits development of the paramesonephric ducts · The mesonephric ducts form: . Horseshoe Kidney . seminal vesicle and ejaculatory duct . 9. Accessory renal arteries – common. no communication from the bladder to the outside 15. 7. but looses its connection to the bladder REPRODUCTIVE Derivatives of the genital ducts: · male – high level of testosterone stimulates development of the mesonephric duct. Obstructive genitourinary defect: stenosis or atresia of the urinary tract at any level 12. can obstruct a ureter and cause hydronephrosis 3. bilateral = incompatible with life 5. Bifid Ureter: occurs when the ureteric bud divides prematurely.occurs when the ureteric bud fails to reach the metanephric mesoderm. Pelvic Kidney .an ectopic ureter opens anywhere except into the urinary bladder (commonly into more inferior parts of the urinary tract – urethra).only a portion of the allantois remains. Postcaval ureter: right ureter passes behind the IVC. Occasionally. requires kidney transplant for survival 4. genetic in origin.male: epididymis. resulting from the ascent of the kidney.numerous cysts form on the kidney. they pass between the two umbilical arteries. normal ascent is stopped by the inferior mesenteric artery. This is a rare disorder (1/3. Polycystic Kidney . This is a fairly common disorder and the severity varies considerably. Ectopic ureter . one gets blocked and remains in the pelvic cavity. ductus deferens. paroophoron.a ventral body wall defect where the mucosa of the bladder is exposed to the exterior.during development the metanephric mesoderm fuses while in the pelvis. may be caused by the lack of mesodermal migration into the region between the genital tubercle and the umbilicus 13. prone to infection 10.the lumen of the allantois does not close. Urachal Cyst . Exstrophy of the Bladder . there is an abnormal communication of the bladder to the outside via the anterior abdominal wall 14. • Fused kidney: • Pancake kidney: 6. Renal Agenesis .

true hermaphrodites are extremely rare and 70% of them have a 46. the vagina ends in a blind pouch and the uterine tubes are absent or rudimentary. Turner’s Syndrome . 4.47. XX chromosomal make-up. Genitalia are female but infantile 2.Chromosomal anomaly (45. but have small testes. 5. • True hermaphrodite . XX genetic make-up and results from the exposure of a female fetus to excessive levels of androgens. Uterine / Vaginal Abnormalities: • Double uterus (uterus didelphys): • Bicornate uterus • Unicornate uterus • Vaginal atresia: 9.000 live births).these individuals have a 46. Androgen Insensitivity Syndrome (also called Testicular Feminization Syndrome) .an extremely rare condition (1 in 20. • Male hermaphrodite .a discrepancy between the morphology of the gonads and the appearance of the external genitalia. but rather ovarian “streaks”. XXY and therefore male.these individuals have a 46. Germ cells degenerate after reaching gonadal ridge. tall stature with long lower limbs and gynecomastia. The phenotype may be male or female but the external genitalia are ambiguous. The defects are caused by inadequate production of testosterone and Mullerian Inhibiting Hormone (MIF). the testes are usually located in the abdomen or lodged in the inguinal canal. Klinefelter Syndrome . • Female hermaphrodite . Hermaphrodites .. Cryptorchidism – undescended testes 7. The most common effects are masculinization of the external genitalia (enlargement of the clitoris and fusion of the labia). XY but appear as normal females.male: appendix of testes and prostatic utricle . Congenital INDIRECT inguinal hernia – intestinal loops protrude through a persistent processus vaginalis (through the inguinal canal) 8. Hydrocele – processus vaginalis doesn’t close and accumulates fluid. The internal and external morphology varies and depends on the development of the paramesonephric ducts. results from a resistance to the action of testosterone because of a defect in the androgen receptor. intelligence will often be effected.female: uterine tube. ovaries do not form. Most are raised as females and have both testicular and ovarian tissue or an ovotestis. Hypospadias – external urethral opening is on the ventral aspect of the penis . 3. XY genetic make-up. The most common cause is congenital adrenal hyperplasia. XO). patients are 46. usually spontaneously closes in a few days 6. uterus and superior part of vagina External Genitalia: – after week 9 the genitalia can be distinguished as male or female! MALE FEMALE UG folds floor of urethra labia minora Genital swellings scrotum labia majora Genital tubercle penis clitoris UG sinus urethra/prostate urethra/vagina 1.

portion of body lesser horn of hyoid Cartilag and e superior portion of body of hyoid 1. The second through fourth clefts typically regress. right: trunk (left Artery part one of ductus subclavian arteriosus) malleus and incus stapes. Branchial Cysts/Fistula – results from persistence of the pharyngeal grooves. Epispadias – external urethral opening is on the dorsal aspect of the penis HEAD AND NECK Pharyngeal Apparatus Clefts (Grooves) – four pairs. The third pouch gives rise to the thymus and inferior parathyroid gland. s palate. tensor belly of s and superior tympani and digastric portion of tensor veli palatini and esophagus stylohyoid maxillary hyoid and common and left: portion of Pulmonary stapedial internal carotid arch. digastric. but may persist and give rise to a cervical sinus. Pouches – four pairs. inferior anterior belly of stapedius. remnants of cartilage or bony elements under the skin anterior to the inferior 1/3 of the sternocleidomastoid persist . neural crest grows into each arch and forms all connective tissue (cartilage. posterior cricothyroid cricopharyngeu Muscles mylohyoid. branchial fistulas occur when the second arch fails to grow over the third and fourth arches. Such a defect results in the formation of a lateral cervical cyst. The fourth pouch gives rise to the superior parathyroid Pharyngeal Arches – There are five pharyngeal arches. endoderm that forms only epithelium The first pouch gives rise to the auditory tube. The second pouch forms the palatine tonsil. bone and blood vessels) Derivatives of the Pharyngeal Arches First Second Third Fourth Sixth CN V3 Nerve CN VII CN IX CN X CN X muscles of facial stylopharyngeu muscles of muscles of mastication. mesoderm forms skeletal muscle. fistulas have an external opening on the lateral aspect of the neck 2. mastoid antrum and tympanic cavity. muscles.10. pharynx and constrictor. ectoderm that forms only epithelium The first cleft gives rise to the external auditory meatus. greater horn laryngeal laryngeal styloid and inferior cartilage cartilage process. larynx. Branchial Vestiges – normally pharyngeal cartilages disappear.

Thyroglossal Cysts and Sinuses . Acrania – no calvaria.Neural crest cells are important for the development of the pharyngeal arches. results in a skull with peculiar shapes: Scaphocephaly – sagittal suture closes. the skull become twisted 9.thyroglossal cysts lie in the midline of the neck and are a tubular remnant of the thyroglossal duct. 4. parathyroid gland. 7. DiGeorge Anomaly – Involves abnormalities of the heart. malformation of ears. choroid • H = heart defect • A = atresia of choanae • R = retraded growth • G = genitourinary anomaly • E = ear defect .3. failure of neural tube to close 8.The thyroid gland undergoes a migration from the oral cavity to the neck region. Ectopic parathyroids: 6. may have any of the following: hypoplasia of the mandible. face. blocked by nasal epithelium (persistent buccopharyngeal membrane?). a CNS defect whereby the brain and calvaria fail to grow. skull become tall Plagiocephaly – asymmetric closure. Affected individuals will have congenital heart disease. Neural Crest . and thymus gland (the degree to which the immune system is affected varies). Choanal atresia: nasal cavity is not continuous with the pharynx. eyelid defects. accompanied by severe mental retardation 10. unusual facial features with low-set ears. Craniosyntosis – premature closure of the sutures. face. skull is long and narrow Oxycephaly – coronal suture closes. and faulty dentition Pierre Robin Sequence • involves first arch • micrognathia • cleft palate • external ear defects c. Microcephaly – fontanelles close early and sutures close during the first year. part of the CHARGE association: • C = coloboma of the iris. The parathyroids also undergo a migration and are highly variable in their location. Facial defects. a small jawbone that recedes. resulting from deficient neural crest cells. Ectopic Thyroid Tissue . are also accompanied by what other defects? Treacher Collins Syndrome • genetic defect involving the first arch • variable. It is common for remnants of thyroid tissue to remain along the course of migration. wide-set eyes and are born without parathyroid glands. 5.

retinal detachment can occur following a blow to the eye in which case fluid can accumulate and vision can be impaired 17. Atresia of the external auditory meatus: blockage of the external canal 15. Coloboma .recall that the two layers of the retina were separated by an intraretinal space. result in abnormal facial appearance and defective speech anterior cleft • cleft lip that may involve the alveolar part of the maxilla. anterior to the incisive foramen • deficit of maxillary prominence and intermaxillary segment posterior cleft • involves the secondary palate and extends through the soft and hard palate • defective development of the secondary palate • mild cases involve only the uvula cleft lip • involves only the lip and may be bilateral. can vary in severity – can involve only the optic stalk or may involve development of the forebrain 21. 19.11. Cyclopia results from a defect involving midline structures and is accompanied by other defects and is incompatible with life. Persistent pupillary membrane . Congenital retinal detachment .This defect occurs when there is fusion of the eye in the midline. Anophthalmia . Cyclopia is indicated by a single eye. Atresia of the nasolacrimal duct 13. there is some degree of fusion between these two layers. Microphthalmia .indicated by a small. normal appearing eye or an eye that was arrested at some point during normal development.common defects.This defect involves an improper closing of the choroid fissure resulting in a gap in the iris or iris and retina. may lack a lens 20. failure of medial nasal prominences to merge and form intermaxillary segment • characteristic of Mohr syndrome median cleft of the lower lip • rare. Cyclopia . Congenital cholesteatoma: epidermoid tissue within the tympanic membrane 16. failure of mandibular prominence to fuse oblique facial cleft • from upper lip to medial margin of the orbit 14.the pupillary membrane normally covers the anterior surface of the lens and disappears during development. Cyclopia is often accompanied by a midline proboscis that is situated superior to the fused eye. Microstomia – excessive merging of maxillary and mandibular prominences 12. 70% of cases are male median cleft • rare. occurs in various degrees • 1 in 1000. “Clefts” . normally.indicated by the congenital absence of eye tissue. synophthalmia is indicated when there is incomplete fusion of the eyes. 18. this membrane may . if these layers fail to fuse during development the defect is congenital.

Congenital aphakia – absence of the lens 27. Nevus flammeus refers to a flat pink or red blotch that appears on the posterior aspect of the neck. rarely will interfere with vision 22. can be progressive so may not be identified at birth. Congenital cataract . a hemangioma (port wine stain) also appears red but is found on the face. 6. dentinogenesis imperfecta is a common condition where the odontoblasts fail to differentiate and dentin is not calcified Discolored teeth . 7. 8. Albinism . 9. occurs congenitally when there is a defect in the draining mechanism (scleral venous sinus). 3. Color of the iris: the iris is typically blue/gray in most newborns.certain chemicals can be incorporated into the dentin during tooth development. defect involving neuroectoderm and neural crest cells 25.glaucoma is any increase in the intraocular pressure. can be caused by infection (rubella.remain as strands of connective tissue spanning the pupil. 5. localized hypertrichosis is associated with spinal bifida occulta Amelogenesis Imperfecta . result from the persistence or surplus of blood or lymphatic vessels. tetracycline administered during pregnancy can cause the teeth to become yellowish-brown. in erythroblastosis fetalis there is free hemoglobin that can be incorporated into the enamel and cause a black discoloration of teeth 2.not true tumors but may appear as a mass within the skin. hair and retina lack pigment Supernumery nipples . 4. Aniridia: absence of the iris. Congenital ptosis – what could cause this? INTEGUMENT 1.results when the melanocytes fail to produce melanin and the skin.extra nipples or even breast can form anywhere along the milk lines and are fairly common (approximately 1% of the population) Inverted nipples – Congenital alopecia – absence of loss of hair Hypertrichosis – excessive hairiness. whereby the skin appears as very dry and scaly. herpes) or genetic 24. they typically die within a week of birth. Ichthyosis . a collodion infant is covered in a thick membrane that cracks and eventually is shed revealing normal skin Angiomas . Congenital glaucoma . may arise in relation to a rubella infection during pregnancy 23. definitive pigmentation is acquired by 8-10 months 26. Changes at Birth umbilical arteries  paired medial umbilical ligaments umbilical veins  round ligament of liver urachus  median umbilical ligament foramen ovale  fossa ovalis . chicken pox.in this condition the enamel is improperly formed and is soft and friable and the teeth are yellow or brown because of exposed dentin.any lens opacity present at birth. a harlequin fetus has an extreme form of this disorder where the skin is abnormally thick and cracked.results from excessive keratinization of the skin.

ductus arteriosus  ligamentum arteriosum ductus venosus  ligamentum venosum Miscellaneous Stem villi mesoderm Intervillous space – form from trophoblast and somatic layer of extraembryonic – contains maternal blood .