Approach to the Newborn with Multiple Congenital Abnormalities (MCAs) Flashcards
How common is it among live born infants to have major / minor abnormalities?
3% major
3% minor
What system do most of the major congenital abnormalities in liveborn infants involve?
- 15-20% Central nervous system
- 15-20% Heart
What are the different aetiologies of MCA (multiple congenital abnormalities)?
- Chromosome abnormalities (microscopic/submicroscopic)
- Single gene disorders
- Multifactorial conditions
- Maternal disease
- Maternal exposures
- Unknown
What are the possible pathogenesis of multiple congenital abnormalities?
- Malformation
- Deformation
- Disruption
- Sequence
- Association
- Dysplasia
How do we evaluate a newborn with multiple congenital abnormalities (4 main steps)?
- Physical and neurological examination
- Pregnancy history
- Delivery history
- Family history
Clinical examination:
- Head to toe
- Pay attention to detail
- Measurements
- Photographs
- Look at parents (? Familial traits)
What are the different head sizes we can note for?
- Microcephaly
- Macrocephaly
- Relative micro/macrocephaly
- Familial (measure parents)
Is it relative (with regards/incomparison) to other growth parameters?
How do we measure length of baby?
What must we examine when looking at the skull and face?
- Skull shape
- Fontanelle & sutures
- Facial general shape & expression (facial nerve palsy, muscle weakness)
- Placement & positioning of facial parts
- Eye, ear, nose, mouth
What are the different skull landmarks?
What are the different possible skull shapes?
I.e. if sagittal sutures are closed, growth perpendicular to those sutures cannot occur = growth will continue = elongated headshape = dolichocephaly [premature closure of sagittal sutures]
Decrease in AP diameter = premature closure of coronal suture = perpendicular growth could not happen = wider skull shape, rather than increase in AP diameter
Patient with metopic synostosis and trigonocephaly
Patient with sagittal synostosis and scaphocephaly
Frontal bossing:
- Elevated anterior hairlines
What is this? Why is it important?
Hair whorls
- Up to 2 is normal
- If there is more than 2, there may be underlying developmental problems in CNS (soft signs)
What is this?
Cutis aplasia: Deficiency of skin cutaneous layer
What is seen here?
Low posterior hairline
What is this? What relationship does it have with cystic hygroma?
Webbed neck due to oedema (appears as cystic hygroma in foetus, when fluid dries up, redundant skin appears as webbing)
What may this part of the face tell us about the CNS?
This part of the face tells us about the underlying development of the brain
What do all of these patients suffer from?
Holoprosencephaly: failure of cleavage of forebrain into L & R hemisphere
In development of CNS, CNS is supposed to separate / cleave / breakdown into L&R
D. Eyes are too close: hypotelorism
A. Eye are too close that they fuse as one: cyclopia
B. Absence of nose: probicis
D. One nostril: fusion of nostrils
E. Central cleft: midline problems
G. Only one front tooth (mildest form of midline problem in holoprosencephaly)
Pay attention to CNS (midline problems)
Fusion of eyebrow: synophorus
Arching of eyebrows
What are the eye measurements which should be noted when looking for hypotelorism/hypertelorism?
What is primary telecanthus?
Lateral displacement of lacrimal puncta
Inter-pupillary distance is normal
What is this?
Telecanthus
Hypertelorism
What is seen here?
Palpebral fissures
- Midface Hypoplasia (Downs syndrome
- Maxillary or zygomatic Hypoplasia
What are epicanthal folds?
- Can be seen normally in Asians
- May have to pinch the nose to measure intercanthal distance
Coloboma of the eyelids (cleft)
What is this?
Iris coloboma
What is this?
Lisch nodules: seen in NF1(brown dots)
What is seen in CHARGE syndrome?
C-coloboma
H-heart defects
A-atresia of choanae
R-retardation of growth
G-genital anomalies
E-ear anomalies and/or deafness
How do we define ear position?
Ear position is defined by outer canthal line to the prominent part of the occiput
What often occurs with low-set ears?
Ear rotation: ears are often posteriorly rotated along with low-set ears (embryology: ears develop from pharyngeal arch)
Can also measure length of ear to determine microtia
What is preauricular sinus?
If bilateral: inherited
What is seen?
Ear tags:
0.5-1% of newborns with have ear tags or ear pits, of these 20% will have associated anomalies
Why do ear abnormalities often appear with renal anomalies?
What Ix should we order for patients with preauricular pits, cup ears, ear tags? + (other malformations or dysmorphic features, family Hx of deafness, auricular or renal malformations, maternal Hx of festational DM)
Renal ultrasounds
Special philtrum abnormalites
What are some structural issues which can occur in the lip and palate?
Look deep into the mouth using torch to locate cleft palate
- Lip & palate are formed at different times embryologically
- Could be isolated or syndromic
What must we think about if we see midline cleft lip?
Holoprosencephaly
Cleft palate: some are V-shaped, some are U-shaped, bifid uvula
Why may retrognathia be problematic?
Breathing and feeding may be affected
- Feeding problems
- Desaturation
What is wrong with the joint?
Arthrogryposis (joint contractures)
- Club foot
What is wrong with the joint?
Joint hyperextensibility
Facial asymmetry
Leg asymmetry
What is the clinical importance of hemihypertrophy?
Associated with tumour risk!
I.e. BWS require screening for Wilm’s tumour (abdominal U/S), hepatoblastoma (AFP)
Can stop screening when child is oldr
What must we pay attention to in polydactyly?
Axis is line in the center of the middle finger (preaxial is thumb)
What is this?
Oligodactyly: Take X-ray to see what is the problem
What is the problem?
Syndactyly: Take X-ray to see if it is partial (only affecting cutaneous layer) or fusion of underlying bones
Camptodactyly: Contractures leading to closed fist
What are normal and abnormal palmar creases?
Rocker bottom foot
Cafe au Lait: NF
What to do for P/E?
What must we look for during P/E of genitalia?
What are major vs. minor congenital abnormalities?
Where are minor anomalies commonly found? Where else must we try to look for these minor abnormalities?
What are the indications of single vs multiple abnormalities?
Pregnancy history for prenatal onset of congenitalabnormalitiesx
Fetal activity = function of neurological system
When may we suspected congenital neurological abnormalities of foetus during pregnancy?
Fetal growth
Fetal growth - IUGR
- Increased incidence of malformations
- Increased incidence of neurological and developmental abnormalities
Amniotic fluid volume
Examples of some maternal diseases which may be associated with congenital malformation of baby
- DM
- Myotonic dystrophy
- High blood pressure
- PKU
- SLE
Caudal regression syndrome: poor growth of lower limb
What substances may increase risk of congenital malformation if exposed to mother?
When obtaining family history, what should we ask for?
Red flags in family history which may suggest risk of developing congenital abnormality
First phase of embryo development: Preimplantation period
Embryonic period
Fetal period
Timeframe for embryology
Remember, major malformations usually form during embryonic period
What is a malformation
Can be isolated (spina bifida, cleft lip, cleft palate) or multiple (Down syndrome, William syndrome, Cornelia de Lange)
What is malformation sequence?
A pattern of multiple defects that result from a single primary malformation
Sirenomelia: malformation sequence (vascular accident in blood vessel that forms lower body = these babies die indefinitely as there is no renal agenesis)
Small jaw/chin = no space for growth = tongue will press on palate = cleft palate
Normal kidney = obstructed urethra = back pressure = dilated ureter = high pressure in kideny = poor kidney fucntion = bladder distention = bladder rupture = fetal urinary ascites = abdomen distended = muscle of abdomen becomes lax (prune belly syndrome)
Renal agenesis = not enough urine production = oligohydramnios = baby grows in confined environment = joint contractions
What is deformation?
Deformation:
- Evolves after the period of organogenesis is completed
- May be reversible postnatally
What is a disruption?
Morphologic defect of organ or larger region resulting from extrinsic breakdown of, or interference with, an originally normal developmental process
Amniotic band syndrome:
- Amniotic membrane breaks = coils around body parts = constrictoin of limbs = oligodactylyl (limb amputation)
What is an association?
2 or more to form association
What is dysplasia?
Term is often applied to generalised abnormalities of bone, involving the epiphysis, metaphysis or diaphysis
Spondylo = spine
Classic rhizomelic shortening
Syndrome
Recognised pattern of developmentally independent malformations having one etiology
