Pathology
Images
Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
Index
Contents
Authors
Up
Next
Back
×
+ Introduction
+ Using this atlas
+ Conditions of using this atlas
+ Technical notes
+ Hardware
+ Software
+ Virtual microscope, new interface
+ Virtual microscope interface for users
+ Scroll bars
+ Pohyb obrazem
+ Náhledové okno
+ Tlačítka v horní části okna
+ Aktivace šipek
+ Popis obrazu
+ Přepínání jazyka
+ Nastavení, kontextové menu
+ How to use the atlas
+ Navigating through the text pages
+ Controlling the pictures
+ Logos and labels
+ What will you need to use the atlas
+ Bugs, problems
+ Netscape
+ Microsoft Internet Explorer
+ Some other Internet resources concerning dermatopathology and pathology
+ Support
+ Support
+ Atlas of fetal pathology
+ Congenital malformations
+ Physiological developement of an embryo and fetus, growth and changes of the external shape
+ Congenital malformations and congenital anomalies
+ Basic terminology
+ Etiology of congenital anomalies (CA)
+ Environmental causes of congenital anomalies, congenital infections
+ Rubella
+ Cytomegalovirus
+ Syphilis
+ Toxoplasmosis
+ Diabetes mellitus (DM) and pregnancy
+ Diabetic embryopathy
+ Diabetic fetopathy
+ Genetic causes of congenital malformations
+ Chromosomal abnormalities
+ Down syndrome
+ Klinefelter syndrome
+ Turner syndrome
+ Patau syndrome
+ Edwards syndrome
+ Triploidy
+ Single gene disorders
+ Tuberous sclerosis
+ Miscellaneous malformation syndromes, sequences and associations, unclassified
+ Sirenomelia (Mermaid syndrome)
+ Hydrops fetalis
+ Immune hydrops (erythroblastosis fetalis, hemolytic disease of the newborn)
+ Nonimmune hydrops
+ Hygroma colli cysticum
+ Pierre-Robin sequence
+ Caudal regression syndrome (sacral agenesis)
+ VACTERL association
+ Pathology of twinning
+ Complications of monochorionic diamnionic placentation
+ Chronic twin transfusion syndrome
+ Acute twin-twin transfusion
+ Complications of monochorionic monoamnionic placentation
+ Congenital malformations in twins
+ Chorangiopagus parasiticus (acardius)
+ Pathology of higher multiple gestations: triplets
+ Monsters
+ Monstra duplicia
+ Gemini monochoriati inequales
+ Duplicitas symmetros
+ Asymmetric dual monsters
+ Monstra simplicia
+ Congenital malformations of individual organ systems
+ Congenital malformations of the central nervous system
+ Congenital malformations of the spinal cord
+ Spina bifida
+ Myeloschisis (rachischisis posterior)
+ Congenital malformations of the brain
+ Anencephaly
+ Iniencephaly
+ Encephalocele
+ Arnold-Chiari malformation
+ Disorders of formation of the structures derived from the mediobasal prosencephalon
+ Migration disorders
+ Destructive lesions of fetal brain (disruptions)
+ Porencephaly
+ Hydranencephaly
+ Hydrocephalus
+ Dandy-Walker malformation
+ Intracranial non-neoplastic cysts
+ Arachnoid cyst
+ Neuroepithelial cyst
+ Congenital malformations of the respiratory system
+ Congenital cystic adenomatoid malformation (CCAM)
+ Lobar sequestration
+ Congenital lobar emphysema
+ Pulmonary hyperplasia
+ Pulmonary hypoplasia
+ Congenital pulmonary lymphangiectasia
+ Diaphragm and congenital malformations
+ Congenital malformations of kidneys and efferent urinary tracts
+ Renal agenesis
+ Variations of shape and position of the kidneys
+ Renal cystic disease
+ Infantile polycystic kidneys (ARKPD)
+ Renal dysplasia
+ Adult polycystic kidneys (ADPKD)
+ Autosomal dominant polycystic kidney disease in infant and fetus
+ Lower urinary tract obstruction
+ Posterior urethral valves
+ Congenital tubular renal dysgenesis
+ Urinary bladder
+ Hypospadia
+ Congenital malformations of genital system and somatosexual congenital disorders
+ Somatosexual disorders
+ Somatosexual disorders with normal karyotype
+ Pseudohermaphroditism masculinus
+ Androgen insensitivity syndrome, testicular feminization syndrome, female XY
+ Pseudohermaphroditism femininus
+ Congenital adrenal hyperplasia
+ Somatosexual disorders with pathologic karyotype
+ Congenital malformations of female genitalia
+ Congenital malformations of the internal genitalia
+ Congenital malformations associated with congenital malformations of urinary system
+ Congenital malformations of the vulva
+ Congenital malformations of the male genital organs
+ Cryptorchidism
+ Congenital malformations of penis and scrotum
+ Smith-Lemli-Opitz syndrome (SLOS)
+ Congenital tumors
+ Sacrococcygeal teratoma
+ Congenital cardiac rhabdomyoma
+ Congenital heart defects
+ Defects of heart septum
+ Atrial septal defects
+ Ventricular septal defects
+ AV septal defects
+ Anomalies of the great arteries
+ Transposition of the great arteries
+ Truncus arteriosus
+ Double-outlet right ventricle
+ Malformations of the valves
+ Tricuspid atresia
+ Stenosis and atresia of the mitral valve, the hypoplastic left heart syndrome
+ Stenosis of the pulmonary artery
+ Pulmonary atresia with intact ventricular septum
+ Tetralogy of Fallot
+ Aortic stenosis
+ Malformations of the aortic arch system
+ Persistence of ductus arteriosus
+ Coarctation of the aorta
+ Interruption of the aortic arch
+ Right-sided aortic arch
+ Malformations of the venous system
+ Anomalies of situs and heart position
+ Di George syndrome
+ Congenital malformations of the gastrointestinal tract
+ Oral cavity and the palate
+ Cleft lip and palate
+ Congenital defects of the esophagus
+ Atresia
+ Congenital esophagus stenoses
+ Congenital malformations of the stomach
+ Congenital malformations of the intestines
+ Atresia
+ Malrotation of the intestine
+ Remnants of the omphalomesentric duct
+ Anorectal malformations
+ Duplicatures
+ Defects of the abdominal wall
+ Omphalocele
+ Gastroschisis
+ Limb-body wall complex
+ Pentalogy of Cantrell
+ Developemental anomalies of the skeleton
+ Defects of growth of tubular bone and/or spine
+ Thanatophoric dysplasia
+ Diastrophic dysplasia
+ Abnormalities of density of cortical diaphyseal structure or metaphyseal modeling
+ Osteogenesis imperfecta
+ Limb malformations
+ Terminal transverse limb defects
+ Radial ray defects
+ Finger anomalies
+ Club foot
+ Constriction (amniotic) band syndrome
+ Placental inflammation
+ Ascending infections
+ Placental inflammation, acute
+ Hematogenous infections
+ Fetomaternal listeriosis
+ Pathology of the fetal membranes
+ Amniotic band syndrome
+ Meconium staining
+ Candida infection of the placenta
+ Pathology of the placenta
+ Normal placenta
+ Extrauterine gravidity
+ Gestational trophoblastic disease (GTD)
+ Hydatidiform mole
+ Complete mole
+ Partial mole
+ Invasive mola (mole proliferans, mole destruens)
+ Gestational choriocarcinoma
+ Placental site trophoblastic tumor
+ Placenta and major chromosomal abnormalities
+ Hydropic placenta
+ Pathology of the umbilical cord
+ Abnormal length
+ Short cord
+ Long cord
+ Insertion abnormalities
+ Abnormal coiling
+ Umbilical vessels pathology
+ Umbilical cord accidents which compromise the blood flow
+ Thrombosis of umbilical blood vessels
+ Umbilical cord inflammation
+ Acute funisitis
+ Subacute necrotizing funisitis
+ Miscellaneous rare cord lesions
Turner syndrome
Etiology

Karyotype: full monosomy X (45 X), often mosaic (e.g.45X/46XX)

Clinical signs
  • incidence 1 : 4000 livebirths
  • the incidence is not increased in advanced maternal age
  • up to 99% of 45 X conceptuses are spontaneously aborted
  • female habitus
  • normal intelligence
  • life expectancy is slightly shortened
  • clinical signs in a fetus:
    • prominent edema over the dorsum of the hands and feet
    • nuchal cystic hygroma
    • hydrops fetus universalis with effusions, pulmonary hypoplasia in some cases
  • main symptoms in late childhood and adolescence:
    • short stature
    • primary amenorrhea, sterility

Hydrops, edémy (73733)

Macroscopic appearance

Dysmorphic features and phenotype: broad webbed neck, broad chest with increased internipple distance, low hairline, swollen hands and feet in a newborn

Congenital malformations of the internal organs:

  • cardiovascular system:seen in 20% of cases, mainly
    • coarctation of the aorta
    • aortic valvular stenosis
    • hypoplastic left heart syndrome
  • kidneys: horseshoe kidney
  • ovaries: gonadal dysgenesis — the follicles progressively dissappear after 16 weeks of gestation and ovaries of a term infant are completely fibrotic without follicles (streak gonads)

Turner syndrome (74009)

Pictures

Turner syndrome: Turner syndrome, Macro, autopsy (73731) Turner syndrome, Macro, autopsy (73732) Turner syndrome, Macro, autopsy (73733) Turner syndrome, Macro, autopsy (73734)

Turner syndrome: Turner syndrome, Macro, autopsy (73735) Turner syndrome, Macro, autopsy (73736) Turner syndrome, Macro, autopsy (73737)

Turner syndrome, fetus 15-week: Turner syndroma, Macro, autopsy (74009)

Case study
Turner syndrome
Marta Ježová
History

Ultrasound examination in 20 w.g.: hydrops, nuchal hygroma 5 cm, pleural effusion, ascites. The aortic arch not visible, aortic atresia has been suspected.

Karyotype 45X.

Macroscopic appearance
  • 21-week fetus
  • hydrops fetus universalis
  • nuchal cystic hygroma
  • edema of dorsa of hands and feet
  • tubular hypoplasia of the aortic arch (coarctation)
  • horseshoe kidney

Edema (72710)

Hydrops, cystic hygroma (72711)

Pictures

Hydrops, edema over dorsum of hands and feet, nuchal cystic hygroma, hydropic face: Edema of feet, Macro, autopsy (72709) Edema of hands, Macro, autopsy (72710) Hydrops, nuchal edema, Macro, autopsy (72711) Hydrops, nuchal edema, Macro, autopsy (72712)

Coarcation of the aorta (narrowing of the aortic isthmus): Coarcation of the aorta, Macro, autopsy (72713)

Horseshoe kidney: Horseshoe kidney, Macro, autopsy (72714)

Coarctation of the aorta, US video: Coarctation of the aorta, Ultrasound, video (72732)

Hydrothorax, ascites, cystic hygroma (US video): Hydrothorax, ascites, hygroma colli, Ultrasound, video (72731)