congenital anomalies

definitions of dysmorphology and examples congenital infections foetal alcohol exposure

congenital anomaly is structure development […] in […]

• arrested, delayed or misdirected

• embryonic life

congenital anomaly […] incidence in live birth & […] stillbirths

• 2 - 3%

• 25%

causes of congenital anomalies

• genetic

• infectious

• nutritional

• environmental

prevent congenital anomalies

• vaccination

• folic acid in pregnancy

• antenatal care

dx antenatal

U/S

anatomical lesions visualised at […]

16 - 20 weeks gestation

soft markers on U/S

• shortened humerus & femur

• echogenic intracardiac foci

• echogenic bowel

• pyelectasis

types of morphologic abnormalities

• malformation

• deformation

• disruption

• dysplasia

malformation is […] w/ […]

• intrinsic abnormality

• formation, growth, differentiation

types of malformation

• hypoplasia

• incomplete closure

• incomplete separation

eg hypoplasia

microtia

eg incomplete closure

• NTDs

• cleft palate

eg incomplete separation

syndactaly

NTDs are […] during […] gestation

• failure of primary NT closure

• 4th week

types of NTD

• anencephaly

• encephalocoele

• spina bifida

NTD occurs in […] of live births

2.5 - 4 per 1000

NTD RF

• FHx

• maternal anticonvulsant (Na valproate)

• poor maternal nutrition

• lack of folic acid in pregnancy

childbearing women prevent NTD w/

folic acid

high risk group NTD take […] and continue […]

• 4 mg FA ≥ 4 weeks prior to conception

• first trimester

anencephaly define

• primary failure

• closure of rostral aspect (NT)

anencephaly CF

• absent skull vault

• forebrain

anencephaly stillbirths

75%

anencephaly tx

• life-limiting

• palliative care

encephalocoele define

• protrusion of cerebral tissue

• midline cranial defect

• frontal or occipital regions

encephalocoele causes […] in […]

• brain herniation

• 80% occipital

encephalocoele prognosis

amount of brain in sac

spina bifida define

• failure of midline fusion

• dorsal vertebral bodies

all forms of SB tx

• specialist

• MDT

spina bifida occulta (SBO) occurs in […]

10% of population

SBO has no […], defect in […], intact […]

• No CF

• defect in bony vertebral arch

• intact cord structures

SBO overlies

• nevus

• tuft of hair

• skin puckering

• lipoma

• dermal sinus

SBO dx

spinal US/MRI

SBO complications

diastematomyelina (tethered SC) → lower limb neuro problems

meningocele is […] through […] covered by […]

• herniation of meninges & CSF

• bony defect

• skin

meningocele […] neuro defect

no

meningocele tx & prognosis

• surgical closure

• excellent

myelomeningocele is […] through […]

• herniation of SC & nerve roots

• vertebral defect

myelomeningocele is covered by […] or […]

• meninges/skin

• open

myelomeningocele motor & sensory defects […] lesion level

below

myelomeningocele complications

• urinary & faecal

• urinary tract dilatation

• Arnold Chiari malformation → hydrocephalus

• flaccid paralysis below lesion level

myelomeningocoele tx

• surgery

• observe for hydrocephaly → shunt

• cognitive assessment

• lower GI management

• orthopaedics

• MDT

hydrocephalus is […] of CSF → […]

• abnormal accumulation

• macrocephaly

hydrocephalus CF

• bulging AF

• enlarged head circumference

• sun-setting eyes

• dilated scalp veins

hydrocephalus tx […] → […]

• acetazolamide

• ventriculoperitoneal shunt

• ventriculostomy

deformation is due to […] causing […]

• mechanical forces

• moulding of part in foetus

deformation examples

• talipes equinovarus

• DDH

• over-folded ear

DDH is […]

dysplasia of acetabulum

DDH screen

• exam

• high risk → U/S

DDH tx

ortho & PT

early DDH tx

Pavlik harness

late DDH presentation > 3 months/failed pavlik tx

closed or open reduction augmented w/ hip spica

late > 2 years DDH tx

reduction & femoral shortening osteotomy

talipes equinovarus (TEV) is […] of the feet

• inversion

• adduction

• equinus

TEV occurs in […] ive births & […] M:F

• 1 - 2/1000

• 2:1

types of TEV

• positional

• fixed

positional TV is […] → tx […]

• common & correctible → flexible foot

• self-resolving, PT

fixed TEV affects legs […] → types of tx […]

• 50% bilateral

• always ortho & PT

• non-op: Ponseti technique

• operative: percutaneous transverse Achilles lengthening ± corrective osteotomy

fixed TEV tx takes […] → […] foot function returned

• 4 - 5 years

• 80%

disruption is […] → […]

• destructive breakdown/interference of normal dev structures

• destruction/death of cells

disruption aetiology

• formation → morph alt of structures

• secondary to mech forces, infections, or vascular events

disruption eg

• amniotic band constriction → digit loss

• intrauterine vascular accident → lack of normal limb dev

dysplasia is […]

abnormal cellular organisation & function in specific type of tissue

dysplasia aetiology

single gene defects

dysplasia eg

• skeletal dysplasia - achrondroplasia

• ectodermal dysplasia

• osteogenesis imperfecta

achondroplasia gene mutation

FGFR3

achondroplasia inheritance is […] but […]

• autosomal dominant

• 80% sporadic mutation

achondroplasia CF

• macrocephaly

• prominent forehead

• short limbs & fingers

• disproportionate short stature

achondroplasia complications

• short stature

• dental malocclusion

• neuro impairment

• sleep apnea

sequences have […] → […] → […]

• single known/localised abnormality

• cascade of effects

• constellation of defects

sequences aetiology

• malformation

• deformation

• disruption

associations are […] of […] anomalies

• non-random occurrence

• comb of 1+ anomalies

syndromes are […] anomalies in […] due to […]

• multiple

• 1+ tissues/structures

• specific etiologic mech

syndromes aetiology

• chr disorder

• single gene defect

• environment

sequence eg

• potter sequence

• pierre robin sequence

potter sequence CF

JATOPF

• joint contractures

• agenesis - renal

• talipes equinovarus

• oligohydramnios

• pul hypoplasia

• facial dysmorphism: depressed nasal bridge

pierre robin sequence CF

• micrognathia

• glossoptosis

• cleft palate

association eg

VACTERL ≥3

• vertebral abn

• anorectal mal

• cardiac mal

• tracheoesophageal fistula

• renal anomalies

• limb anomalies

syndrome eg

DEBTPP22

• down syndrome

• edward syndrome

• beckwith-wiedemann syndrome

• turner syndrome

• patau syndrome

• prader-willi syndrome

• 22q11 syndrome

Down syndrome aetiology

• meiotic non-disjunction 85%

• robertsonian translocation 4%

• mosaicism 1%

down syndrome CF

• low birth weight

• hypotonia

• low set ears

• upslanting palpebral fissures & epicanthic folds

• brushfield spots

• depressed nasal bridge

• large protruding tongue

• singular palmar creases

down syndrome system complications

• cardiac: AV septal defect

• Resp: RTI

• GI: duodenal atresia

• infection: increased sus

• autoimmune: type 1D

• neuro: seizures

• haem: leukaemia

• endo: hypothyroidism

• MSK: short stature

• Ophth: cataracts

• dev delay: learning diff

• poor feeding

• psych: anxiety, depression

edward syndrome aetiology

meiotic nondisjunction → chr18 ×3

edward syndrome CF

• low set ears

• small jaw

• prominent occiput

• congenital heart defects

• syndactylyl

edward syndrome prognosis

• life-limiting

• rare beyond early infancy

patau syndrome aetiology

• meiotic nondisjunction: chr 13 × 3

• unbalanced chr translocation

• mosaicism

patau syndrome CF

• low birth weight

• cutis aplasia

• cleft lip & palate

• microphthalmia, anophthalmia, coloboma

• fused kidneys

patau syndrome prognosis

• life-limiting

• 5% live beyond 1st year

beckwith-wiedemann syndrome aetiology

chr11p15 → overexp IGF-2

beckwith-wiedemann syndrome CF

• large for gestational age

• transient hyperinsulinism

• hemihypertrophy

beckwith-wiedemann syndrome complications

wilms tumour

turner syndrome aetiology

• no short-arm X chr

• karyotype of 45 chr

turner syndrome CF

• short stature

• webbed neck w/ low hairline

• widely spaced nipples

• high arch palate

• aortic coarctation

• horseshoe kidney

• normal IQ

turner syndrome CF puberty

• short stature in childhood

• secondary sexual characteristics dev spon

• pregnancy via donated ova

prader-willi syndrome aetiology

chr 15

prader-willi syndrome CF

• feeding difficulties

• narrow forehead

• almond-shaped eyes

• triangular mouth

• small fingers, feet, height

• DDH

[…] of 22q11.2 → defects in […]

• monosomic deletion

• 3rd and 4th brachial arches

22q11 CF

• congenital cardiac malformations: aortic arch & conotruncal anomalies

• dysmorphism: hypertelorism, short philtrum

• cleft palate

• hypoCa2+

• T-lymp def

• intellectual disability

TORCH consider if […]

• SGA

• microcephaly/hydrocephalus

• ocular defects

• hepatosplenomegaly

• thrombocytopenia

• delayed dev

TORCH investigations

• screen

• maternal bloods

• imaging

foetal alcohol spectrum disorders CF

• mid-face hypoplasia

• epicanthic folds

• flat nasal bridge

• intellectual disability

• VSD, ASD