1. FETAL AUTOPSY
PROCEDURE & PRECAUTIONS
How To Know Cause Of Death
Before Birth

2. WHAT IS FETUS ..
• Human embryo after the 8th week of
gestation is called fetus.

3. • Embryo -1 to 8 weeks gestation
• Fetus- 8 weeks gestation to term
• Stillbirth- Intrauterine/intrapartum fetal death after
the age of legal viability (28 wk), i.e., born with no
“signs of life”
• Perinatal- Stillbirths + neonates in first week after birth
• Early neonatal- First week after birth
• Neonatal- First month after birth
• Post perinatal -Between 1 week and 1 year
• Post neonatal- Between 28 days and 1 year
• Infant- From 1 week of age to 2 years of age

4. •
•
•
•
Preterm <37 weeks gestation
Term37 to 41 weeks of gestation
Post term>42 weeks of gestation
Small for dates
-Weight at birth <10th
centile expected for gestational age
• Very low birth weight- Weight at birth <1500
gms
• Premature Intrauterine growth retardation
Preterm, small for dates and very low birth
weight

5. • Malformation - Morphologic defect resulting
from an intrinsically abnormal developmental
process
• Deformation - Abnormal form, shape, or
position of a structure, caused by mechanical
factors
• Dysplasia - Abnormal organization of tissue

6. • Syndrome: A group of signs and symptoms
that occur together and characterize a
particular abnormality.
• Sequence: Pattern of anomalies derived from
a known (or presumed) malformation or
mechanical factor.
• Complex: Those groups of heterogeneous
disorders with overlapping characteristics that
are difficult to separate e.g., facio-auriculovertebral spectrum.

7. • Developmental Field: Basic biological units of
individual development and of evolution, and
association to represent the idiopathic
occurrence of multiple congenital anomalies
during blastogenesis" (Opitz, 1985)
• Association: Derivatives of nonspecific
disruptive events acting on developmental
fields.

8. TYPES OF FETAL
AUTOPSY
1.Medico-legal autopsy
2.Academic autopsy

9. MEDICO-LEGAL AUTOPSY :
• It is conducted on the requisition of
police under the section Crpc 174.

10. ACADEMIC AUTOPSY :
• It is conducted on the request of
pediatrician, gynecologist, radiologist or
family members of fetus after the
consent of parents with the collaboration
of pathology department or concerning
department.

11. PURPOSE OF AUTOPSY
1. MEDICO-LEGAL AUTOPSY :
•
•
•
To know the cause of death.
Age & sex of fetus.
To know whether the fetus was viable
or not.

12. 2. ACADEMIC AUTOPSY :
• To know the congenital malformations.
• To know the cause, if any female is
having repeated abortions.

13. DOCUMENTS
REQUIRED FOR FETAL
AUTOPSY

14. 1. MEDICO-LEGAL AUTOPSY :
•
Panchnama Police Inquest.
2. ACADEMIC AUTOPSY :
•
•
Pre-natal & post-natal history.
Consent from the parents.

15. •
•
•
•
•
•
Mother’s age, parity, and ethnic origin
Family history, including hereditary disease
Gestational age at birth
Data on any relevant maternal illnesses
Details of previous pregnancies
Full details of the present pregnancy,
including LMP (last menstrual period) and EDD
(estimated date of delivery) by dates and
scans
• Full details of labour and mode of delivery

16. FETAL HYDANTOIN SYNDROME
• Group of defects caused to the developing
fetus by exposure to the teratogenic effects
of phenytoin or carbamazepine
• Abnormalities of the skull and facial features,
underdeveloped nails of the fingers.
• Cleft lip and palate, abnormally small head
(microcephaly) and brain malformations with
more significant developmental delays.

17. TARGETED ULTRASOUND
• A targeted ultrasound is a special ultrasound
done around the 20th week of pregnancy.

18. ANOMALY SCAN
• This is a thorough ultrasound scan of the baby's
anatomy and takes up to half an hour. The scan checks
for a wide range of abnormalities that can be seen with
ultrasound. It should be kept in mind that ultrasound is
not able to identify all abnormalities.
• The structure of the head, heart, abdomen, internal
organs, umbilical cord, limbs, and spine is carefully
assessed in addition to measurements to check baby's
growth. The position of the placenta and the fluid
around the baby is also assessed.

19. CONSENT

26. ARTICALS REQUIRED
FOR FETAL AUTOPSY
1. Charts providing normal weight &
other measurements for new born and
still born.

27. INSTRUMENTS REQUIRED FOR FETAL
AUTOPSY

28. 2. Sterile & non-sterile syringes and needles.
3. Sterile packs including scissors &
forceps for culture and karyotyping.
4. Magnifying glasses.
5. Dissecting microscope preferably with
Camera attached.

29. 6. Pins & tags.
7. Dissecting board.
8. Sponges, gauze, guide wire and weight
machine.
9. Flexible measuring tape.

30. 10. Vernier caliper 50 cm for face
measuremeent.
11. Scalpels, handles & blades.
12. Medium forcep with & without
teeth.
13. Small scissor with one & both
sides sharp points.

31. 16.Microscopes.
17. Containers for tissue specimen.

32. ASPECTS TO CONSIDER BEFORE
THE POST MORTEM
•
•
•
•
•
•
•
•
•
•
External examination
Evisceration and block dissection
Organ dissection in systems
Special techniques used in perinatal and infant
autopsies
Taking samples for histology
Examination of the placenta
Estimation of gestational age and growth
Demonstration of post mortem findings
Determining the cause of death
Writing the report

33. •
•
•
•
•
•
•
•
WHOLE-BODY RADIOGRAPHY
Chondrodysplasias
Osteogenesis imperfecta
Skeletal trauma
Skeletal anomalies
Gas—pneumothorax, necrotising enterocolitis
Abnormal calcifications
Estimation of gestational age via ossification
centres

34. • Blood for haematological examination ( grouping,
Coombs’ test, and testing against maternal
serum)
• Blood and bronchial/tracheal swab or lung for
bacteriology
• Placenta for bacteriology
• Lung or bronchial/tracheal swab for virology
• Blood for viral serology [e.g., TORCH
(toxoplasmosis–rubella–cytomegalovirus–herpes
virus)] test and B19 (parvovirus)
• Tissue for cytogenetic fibroblast culture

35. • Retention of urine, CSF, and plasma for
biochemistry
• Comprehensive histology, including bone
marrow and fat stains on frozen sections
• Samples of liver, kidney, brain, and placenta
for electron microscopy
• Retention of frozen samples of skin, placenta,
muscle, brain, liver, spleen, and kidney

36. • External Examination
•
•
•
•
Estimating the Degree of Maceration
12 hours
Skin slippage
24 hours
Skin blebs
48 hours
Skin sloughing and
autolysis of organs
• 5 days
Liquefied brain,
overlapping of sutures, collapse of calvarium
• 7 days
Laxity and dislocation of
joints
Post Mortem Technique Handbook Second Edition Michael T. Sheaff

37. Early death,
Desquamation
at approximately 4–6 h. The
of skin patches about 1 cm in
fetus exhibits hyperemia of
diameter with blebs ( arrows ).
the face and petechial
Fetal
hemorrhages on the chest
death at approximately 8–10 h.
Handbook of Pediatric Autopsy Pathology
Enid Gilbert-Barness Diane E. Spicer Thora S. Steffensen Foreword by John M. Opitz

38. Fetus with skin desquamation
of approximately 25 % of the
body with skin discoloration
Fetal death at
approximately 18–24 h.
Fetus with skin slippage and
cranial compression.
Death at approximately 36 h.
Handbook of Pediatric Autopsy Pathology
Enid Gilbert-Barness Diane E. Spicer Thora S. Steffensen Foreword by John M. Opitz

39. Fetus with cranial
compression
( arrows ) adjacent to an
ultrasound, which
shows the characteristic
Spalding sign

42. AUTOPSY PATHOLOGY: A MANUAL AND ATLAS, SECOND EDITION ISBN: 978-1-4160-5453-5

43. • EXTERNAL MEASUREMENTS
•
•
•
•
•
•
•
Body weight
Crown–rump length (sitting height)
Crown–heel length (standing height)
Foot length
Head circumference
Abdominal girth (at the level of the umbilicus)
Chest circumference (at the level of the
nipples)

47. •
•
•
•
•
•
•
•
Interpupillary distance
Outer canthal distance
Inner canthal distance
Palpebral fissure length
Philtral length
Foot length
Hand length
Distance b/w Nipples

51. Determination of the
normal position of the ear.
The line formed between
the lateral aspect of the
palpebral fissure and the
occipital notch should pass
through the mid-upper
portion of the helix

54. • Congenital anomalies in North Western
Indian population – a fetal autopsy study
Kapoor Kanchan et al 2013 GMCH,
Chandigarh, India Eur. J. Anat. 17 (3): 166-175
(2013)

58. A 24+ week female fetus
with meningocele
A 14 week female fetus
with complete
rachischisis.

59. Bilateral polycystic kidneys in
a 28 week male fetus.
Enlarged cystic
urinary bladder
with dilated ureters.

60. A case of omphalocele
with abdominal visceral
herniation enclosed in a
transparent amniotic sac.
A 28-week female fetus
presenting complete cleft
lip associated with
complete cleft palate.

61. • Evaluation of Fetal Autopsy Findings in the
Hatay Region: 274 Cases
Hakverdİ et al Mustafa Kemal University,
Faculty of Medicine, Antakya/HATAY, TURKEY
doi: 10.5146/tjpath.2012.01115

70. A) Fetal
Anencephaly,
B) Radial Ray
Malformation,
C) Piepkorn
Syndrome,
D) Thanatophoric
Dwarfism.

71. A) Congenital Cervical
Neuroblastoma,
B) Anencephaly and
Gastroschisis,
C) AnencephalyIniencephaly-Thoracal
Rashisisis,
D) Sacrococcygeal
Teratoma.

72. Germ Cell Tumors
Sacrococcygeal Teratoma
Histologically they contain all three germ layers.

73. • Neural tube defects and associated
anomalies in a fetal and perinatal autopsy
series Copenhagen University Hospital,
Copenhagen, Denmark Nielsen et al Journal
Compilation C 2006 APMIS ISSN 0903-4641

75. A. 20 week fetus with lumbar myelomeningocele.
B. 20 week fetus with occipital cephalocele and Meckel
syndrome.
C. 10 week fetus with exencephaly.

78. ANENCEPHALY
• This is a failure of anterior neural tube closure.
There is absence of scalp, calvarium, and normal
brain, which is replaced by an angiomatous mass.
The eyes are bulging because the frontal bones
are absent and the orbits are shallow.
• The sella turcica is small and shallow, and the
pituitary gland is hypoplastic.
• The medulla and spinal cord are hypoplastic and
often hemorrhagic.

79. Anencephaly

80. CRANIORACHISCHISIS
• Craniorachischisis is where the brain and
spinal cord remain open to varying degrees

81. Craniorachischisi
s

83. Myeloschisis

84. Posterior
encephalocele

85. INIENCEPHALY
• “INION” - Nape of the neck
• In this condition there is a deficiency of the
occipital bone with cervicothoracic spinal fusion
• A rare neural tube defect that combines extreme
retroflexion (backward bending) of the head with
severe defects of the spine.
• Malformation consisting of a cranial defect at the
occiput, with the brain exposed, often in
combination with a cervical rachischisis and
retroflexion. [G. inion, back of the head,
+ enkephalos, brain]

87. INIENCEPHA
LY

88. RACHISCHISIS
• Cleft spine
• Embryologic failure of fusion of vertebral
arches and neural tube with consequent
exposure of neural tissue at the surface, spina
bifida cystica with myelocele or myeloschisis.

90. ARNOLD–CHIARI MALFORMATION
• Type I Medulla and cerebellar tonsils
displaced downward into spinal canal
• Type 2 Type I + low meningomyelocele
• Type 3 Type I + high cervical
meningomyelocele
Or
• Type I + occipitocervical meningomyelocele
Or
• Type I + iniencephaly

91. DANDY–WALKER MALFORMATION
• DWM includes dilatation of the fourth
ventricle and hypoplasia or absent vermis

92. FETAL HYDROPS
• Fetal hydrops is a generalized increase in total body
fluid manifesting as edema and effusion in body
cavities such as the pleural pericardial, and
peritoneal spaces.
• Effusion into two or more serous cavities.
• It can be divided into the immune type which is
caused by sensitization to blood group antigens,
resulting in anemia, and the nonimmune types.
Nonimmune fetal hydrops now accounts for almost
90 % of hydrops cases.
• The Kleihauer–Betke test for fetomaternal
haemorrhage .

93. Generalized
immune hydrops in
rhesus blood group
incompatibility

94. Stillborn infant
with hydrops
and maceration

95. POSTERIOR CERVICAL CYSTIC
HYGROMA
• Posterior cervical cystic hygroma refers to one
or more lymphatic cysts lined by endothelium
located in the nuchal area. It can be an
isolated defect or it may be accompanied by
other anomalies.

96. Posterior
cervical
cystic
hygroma
Bilateral
cystic
hygrom
as

97. Second-trimester
fetal death with
cystic hygroma
(arrows) and
nonimmune
hydrops. The fetus
had Turner’s
Syndrome.

99. Bilateral cystic hygromas, opened to show
multiple lobules

100. FETAL ASCITES
• Fetal ascites may be defined as the effusion of
fluid into the peritoneal cavity, with consequent
abdominal distension due to several different
causes, accompanied by various lesions of the
viscera, and leading usually to a delay in labor
and intranatal or early postnatal death of the
affected infant.
• Most frequent causes were urinary tract
obstruction (urinary ascites), chylous ascites, and
hepato-gastrointestinal diseases.

101. Fetus with urinary ascites

102. OMPHALOCELE
• An omphalocele is a defect of the anterior
abdominal wall, at the insertion of the umbilical
cord, ranging from a few centimeters in diameter
up to extreme cases in which most of the anterior
abdominal wall fails to develop.
• The opening is covered by a translucent
membrane composed of amnion and
peritoneum, into which intestine and often other
viscera protrude.
• Trisomies 13, 18, and 21 and Beckwith–
Wiedemann syndrome.

103. Omphalocele

104. GASTROSCHISIS
• Gastroschisis is a congenital paraumbilical
defect of the anterior abdominal wall with
evisceration of loops of bowel through the
opening.

105. Gastroschisis

106. THANATOPHORIC DYSPLASIA (TD)
• Thanatophoric dysplasia (TD) is the most
common form of skeletal dysplasia that is
lethal in the neonatal period. The term,
thanatophoric, derives from the Greek
word thanatophorus, which means "death
bringing" or "death bearing."
• Macrocephaly, narrow bell-shaped thorax,
normal trunk length, and severe shortening
of the limbs.

107. Thanatophoric dysplasia

108. OSTEOGENESIS IMPERFECTA (OI)
• Osteogenesis imperfecta (OI) is disorder of
congenital bone fragility caused by mutations
in the genes that codify for type I procollagen
• Type I - Mild forms
• Type II - Extremely severe
• Type III - Severe
• Type IV - Undefined

110. RENAL AGENESIS
• Bilateral agenesis results in oligohydramnios,
premature birth, and Potter sequence.

111. AUTOSOMAL-RECESSIVE POLYCYSTIC KIDNEY
DISEASE (ARPKD)
CLASSIC INFANTILE POLYCYSTIC DISEASE

112. Hepatic fibrosis
ARPKD Associated with
Congenital Hepatic
Fibrosis

113. RESPIRATORY SYSTEM
• The ratio of the combined weight of the lungs
to the body weight is used to determine
pulmonary hypoplasia. In infants below
28 weeks, a ratio of 0.015 or less indicates
hypoplasia; above 28 weeks, the ratio for
hypoplasia is 0.012 or less
• Hydrostatic test of lung

114. CHALLENGING DISSECTIONS
In fetuses younger than 20 weeks, much of
this dissection is aided by a high quality
dissection microscope.
• Heart
• Fetal circulatory system (foramen ovale,
ductus arteriosus, umbilical arteries and vein)
• Male urethra

119. If the sutures are open,
Beneke’s
technique is used

125. • TRISOMY 13 PATAU SYNDROME•
•
•
•
•
•
•
•
Moderate microcephaly with a sloping forehead
Eye defects including microopthalmos or coloboma
Cleft lip or palate
Often a capillary haemangioma over the forehead and
localised scalp defects may be present over the
parieto-occipital region
Ears may be abnormally formed and low-set
Frequently loose skin over the back of the neck
Polydactyly is common and there are often simian
creases and prominent heels (rocker-bottom foot)
Common internal anomalies usually involve the central
nervous system (CNS), heart, and kidneys

126. Trisomy 13. Midline facial defect,
hypotelorism, and midface
hypoplasia.

127. • TRISOMY 18 EDWARDS SYNDROME• Often produces severe growth retardation
• Head characteristically has a prominent occiput and a
narrow bifrontal diameter
• Ears are low-set and deformed, the palpebral fissures
are small, the mouth is small, and there is micrognathia
• Hands are often clenched, with the index finger
overlapping the fourth, and the hallux is often short
and dorsiflexed
• A small pelvis may also be present, with limited
adduction of the hip joints
• Common internal abnormalities include ventricular
septal defect and both CNS and renal anomalies

129. Radial aplasia in
trisomy 18, causing
deviation of the right
hand
Trisomy 18 in a 21 week fetus. The
typical features of low-set
ears, upturned nares,
micrognathia, and slender bridge
of nose

130. Trisomy 18 with clenched hand and
overlapping fingers
Rockerbottom feet in
trisomy 18.

131. • TRISOMY 21 DOWN SYNDROME• Brachycephaly with a flatter than normal occiput
and slight microcephaly
• Face is also relatively flat with a small nose, a low
nasal bridge, and inner epicanthic folds
• Palpebral fissures slant upward from inner to
outer canthus
• Ears are small with overfolding of an angulated
upper helix
• May be excess skin on the back of the neck and
the neck itself may be short
• Hands have short metacarpals and phalanges
with hypoplasia of the midphalanx of the fifth
finger which often also shows clinodactyly

132. • This short fifth finger may have a single
crease and there is often a single transverse
palmar crease
• May also be a wide gap between first and
second toes, with a marked plantar crease
• Pelvis is usually hypoplastic with an outward
flaring of the iliac wings and a shallow
acetabular angle
• Most common internal abnormalities are
cardiac and gastrointestinal anomalies

135. Brushfield spots, visible in the
irises of a baby with Down
Syndrome

136. Fetus of trisomy 21 at 39 weeks of
gestation with typical
facial features.
Fetus of trisomy 21 at 22 weeks of
gestation with more
subtle features. Brachycephaly,
posteriorly rotated ears, and increased
nuchal thickness

137. KETTERING TEST OR THE BART'S TEST

138. • TURNER’S SYNDROME
• Usually a small stature, a low posterior
hairline, and a short neck with webbing or
loose skin folds
• Anomalous ears, a narrow maxilla, a broad
chest with widely spaced nipples, cubitus
valgus, and lymphoedema
• Internal abnormalities include ovarian
dysgenesis and renal and cardiac anomalies

140. • MECKEL–GRUBER SYNDROME
• A posterior encephalocoele and polydactyly
• Seen in association with renal anomalies

141. Meckel syndrome Infant
with microcephaly,
occipital encephalocele
(not seen in the picture),
polydactyly, and
distended abdomen
caused by huge cystic
kidneys.

142. Meckel syndrome
A 16-week fetus
with small occipital
encephalocele,
polydactyly, and
slightly distended
abdomen

143. • ZELLWEGER SYNDROME (A PEROXISOMAL
DISORDER)
• A large fontanelle, a high forehead with
shallow supraorbital ridges and a flat occiput
• Limb contractures with camptodactyly and
simian creases may also be present
• Associated internal abnormalities include
CNS, liver, and renal anomalies with excess
iron storage

144. Zellweger syndrome. The
kidney contains multiple
cysts

145. BECKWITH–WIEDEMANN SYNDROME
• Macrosomia, with a particularly large tongue
• Many also show a small omphalocoele and a
particular crease pattern to the ear lobes
• Associated internal abnormalities are
numerous and include renal, adrenal, and
pancreatic anomalies

146. Beckwith–Wiedemann syndrome. Ear with
creases ( arrows on left) and pits ( arrows on right)

147. Beckwith
Wiedemann
syndrome.
Infant with
macroglossia

148. Omphalocele in
Beckwith–
Wiedemann
syndrome
Adrenal cytomegaly in
Beckwith–Wiedemann
syndrome

149. • MERCURY POISONING (MINAMATA DISEASE)
• Growth retardation, microcephaly, and limb
deformities
• Androgenic Steroids
• Female virulization of the external genitalia
• ANTICONVULSANTS
• Produce oral clefts and skeletal and digital anomalies
• Associated internal abnormalities include cardiac and
CNS anomalies
• WARFARIN
• Nasal hypoplasia and skeletal anomalies
• Internal abnormalities include optic atrophy

150. • FETAL ALCOHOL SYNDROME
• Microcephaly, short palpebral fissures, and
maxillary hypoplasia Joint anomalies
• Growth retardation
• Rubella Infection During the First Trimester
• Growth retardation
• Microcephaly, microopthalmia, and cataracts
• Also see osteolytic lesions of bone
metaphyses
• Associated internal abnormalities including
cardiac, CNS, and hepatosplenic anomalies

151. Warfarin embryopathy. The
infant has a hypoplastic nose
with
marked deficiency of cartilage,
resulting in a saddle nose
Infant with fetal alcohol syndrome
with short narrow palpebral
fissures, mild ptosis, small nose,
anteverted nostrils, smooth
philtrum,
and narrow vermilion upper lip

153. ARTIFACTS ASSOCIATED WITH FETAL
AUTOLYSIS
•
•
•
•
Dehydration
Laxity of joints
Herniation of CNS tissue
Degenerating epithelial cells in the small
airways
• Hemorrhages

154. • Umbilical cord “narrowing” is a controversial
subject. Narrowing of the umbilical cord
diameter, particularly in the 1-2 cm segment
immediately adjacent to the abdominal wall is
a common finding in autolyzed fetuses. It is
usually associated with histological loss of
Wharton’s jelly (focal dehydration?) and less
commonly with obvious ante mortem vascular
obstruction (thrombosis, hemorrhage, severe
congestion).

155. LIMITATIONS IMPOSED BY AUTOLYSIS
• Liquefaction of the brain
• Cytogenetic studies

156. PLACENTAL EXAMINATION - WHY?
• Placenta explains cause of death
• Placental pathology explains the cause of
prematurity

157. GROSS PLACENTAL EXAMINATION

158. UMBILICAL CORD
•
•
•
•
•
•
Vessels
Length – 50-70cm at term
Diameter– 1.5-3cm at term
Twist/coils– 3 in 10 cm
Insertion
Knots

160. single umbilical artery

161. MEMBRANES
•
•
•
•
Completeness
Rupture Site
Insertion
Color

170. CUTTING OF DISC

173. Second-trimester
placenta in congenital
herpes
simplex type II
infection, with
multiple yellow
lesions.

174. Gross appearance of the placenta in villitis of unknown
etiology (VUE) with poorly de fined white, almost granular areas.

178. Twin-to-twin transfusion.
Surface anastomoses
laser photocoagulation

179. Amniotic bands.

180. Umbilical Cord Stricture
• Specific narrowing in the umbilical cord is
associated with loss of Wharton’s jelly in that
region. This most commonly occurs near the
cord insertion at the umbilicus. Most
frequently, this is the result of excessive cord
coiling and results in intrauterine fetal demise.
There is often associated fetal growth
restriction. Strictures may also be seen in
relation to amniotic bands.

181. ASSOCIATION
VACTERL- ( VATER )– V - Vertebral anomalies
– A - Anal atresia
– C - Cardiovascular anomalies
– TE - Tracheoesophageal fistula
– R - Renal (Kidney) and/or radial anomalies
– L - Limb defects

183. MURCS Association
Mullerian duct aplasia,
Renal dysplasia, and
Cervicothoracic somite malformation
CHARGE Association
Coloboma
Heart defects
Atresia choanae
Retardation of growth and development.
Genital and urinary abnormalities
Ear abnormalities and/or hearing loss

184. • SCHISIS Association• Schisis (midline) defects, including neural tube
defects (anencephaly, encephalocele,
meningomyelocele), oral clefts (cleft lip and
palate), omphalocele, and diaphragmatic
hernia, Congenital cardiac defects, limb
deficiencies, and defects of the urinary tract,
mainly renal agenesis, are defects that also
have a high association.

185. SEQUENCES

186. Potter’s
pathology

187. • OLIGOHYDRAMNIOS (FROM WHATEVER
CAUSE)
• Low-set ears, a “parrot” nose, and prominent
epicanthic folds
• Large, spade-like (“washer-woman’s”) hands
• Lower limbs often show distortion, hip
dislocation, and talipes
• Associated internal abnormalities include
renal anomalies and pulmonary hypoplasia

188. Pierre Robin Sequence
Micrognathia, glossoptosis, and cleft soft
palate
Prune-Belly Sequence and Related Defects
Triad of apparent absence of abdominal
muscles, urinary tract defects, and
cryptorchidism

190. DiGeorge syndrome
• CATCH-22
• Cardiac Abnormality (especially tetralogy of
Fallot)
Abnormal facies
Thymic aplasia
Cleft palate
Hypocalcemia/Hypoparathyroidism.

191. FRASER SYNDROME
• It is characterized by developmental defects
including cryptophthalmos (where the eyelids
fail to separate in each eye), and
malformations in the genitals (such as
micropenis, cryptorchidism or clitoromegaly).
Congenital malformations of the nose, ears,
larynx and renal system, as well as mental
retardation, manifest occasionally.Syndactyly
(fused fingers or toes) has also been noted in
some cases.

192. TREACHER COLLINS SYNDROME (TCS)
• Mandibulofacial dysostosis is a rare
autosomal dominant congenital
disorder characterized by
craniofacial deformities, such as absent
cheekbones. The typical physical features
include downward slanting
eyes, micrognathia (a small lower
jaw), conductive hearing loss,
underdeveloped zygoma, drooping part of the
lateral lower eyelids, and malformed or absent
ears.

193. SUDDEN INFANT DEATH SYNDROME
• Sudden infant death syndrome (SIDS) is
defined as the sudden death of an infant
younger than 1year that remains unexplained
after a thorough case investigation, including
performance of a complete autopsy,
examination of the death scene, and a review
of the clinical history.

196. • Post Mortem Technique Handbook Second
Edition Michael T. Sheaff, BSc, MB BS, FRCPath
Department of Morbid Anatomy and
Histopathology, Royal London
Hospital,Whitechapel, London, UK Deborah J.
Hopster, BSc, MBChB, MRCPath Department
of Histopathology,Whittington Hospital,
London, UK

197. • Handbook of Pediatric Autopsy Pathology
Enid Gilbert-Barness Diane E. Spicer Thora S.
Steffensen Foreword by John M. Opitz