Inborn errors of metabolism

DisorderExamplesBasic pathophysiologyBlood gasAmmoniaGlucoseKetonesLactate
Urea cycle disordersOTC deficiencyDefect in breakdown of nitrogen → ammoniaRespiratory alkalosis/normal↑↑↑---
Amino acid disordersPKU, MSUD, homocystinuriaDefect in breakdown of amino acidsMetabolic acidosis (↑ anion gap)↑/-↑ (MSUD ↑↑↑ urinary ketones)-
Organic acid disordersPropionic, MMAAccumulation of organic acidsMetabolic acidosis (↑ anion gap)
Lysosomal storage disordersMPS, Pompe, Gaucher, Niemann-PickAccumulation of proteins/lipids-----
Glycogen storage disordersGSD types I-IXDefect in glycogen synthesisMetabolic acidosis-
Fatty acid oxidation disordersMCADD, LCADD, VLCADDUnable to break down fatty acids → ketonesMetabolic acidosis (↑ acidosis)--/↑
Mitochondrial disordersMELASInsufficient acetyl coA for Krebs cycle → ↓ ATPMetabolic acidosis--/↑-↑↑
Peroxisomal disordersXL, ADL, Refsum, Zellweger↓ metabolism of VLCFA, ↓ bile synthesis-----

References

UpToDate

Developmental Milestones

SocialFine Motor/VisionGross MotorSpeech and Language
6 weeksSmilesFixes and follows to the midlineHolds head when held in sitting positionSqueals
2 monthsPays attention to faces; starts to cry when getting boredFixes and follows past the midline; hands are predominantly openLifts head to 45 degrees; starting to weight-bearCooing; turns head towards sound
4 monthsLikes to play with people; laughsReaches with one hand for objects; brings hands togetherFull head control; can roll from front to backBabbling; different cries depending on need
6 monthsRecognises familiar faces; may become excited when hearing stepsTransfers objects; palmar grasp; puts objects in mouthRolls both ways; starting to sit without support; watches hands purposefully; Drinks from a cup and feeds from a spoonResponds to his name; makes sounds to show happiness or discomfort
9 monthsStranger anxiety; separation distress; has a favourite toy; plays peek-a-booUses pincer grasp to pick up a cube; looks for hidden objects; releases objects by dropping; bangs two cubes togetherCrawls; pulls to stand; stands with supportUnderstands 'no'; copies sounds
12 monthsWaves; exhibits preference for his main caregiver; uses objects correctly (e.g. hairbrush, cup)Points with index finger; shakes,bangs or throws objects; uses pincer grasp to pick up small objectsCruises; may take a few steps without supportSays 'mama' and 'dada'; responds to simple requests
18 monthsPoints to pictures in a book; uses a spoon and cupScribbles; builds a tower of 2-3 cubes; turns pages (2-3 at a time)Throws objects; runs stiffly; kicks a ballUses several words; knows three body parts
24 monthsLearning to share and take turns; parallel playBuilds a tower of 6-7 cubes; turns page (one at a time); draws a vertical line; circular scribblesCan walk on tiptoes; runs; up and down stairs (one by one); throws and kicks a balluses two word sentences; can follow a simple command;
36 monthsStarts to make friends; dresses with supervisionCuts paper with scissors; copies O and V with a pencil; eats with fork and spoonCatches a ball; jumps; rides a tricycleGives his name, age and sex; knows three colours
4 yearsPretend play (role-playing); cooperative play; dresses without supervisionCan draw a face; uses a knife and fork; builds a tower of 10 or more cubesHops; up and down stairs with alternate feetAsks 'why' and 'how' questions; knows first and last name
5 yearsUnderstands rules; has a sense of humourCuts out shapes with scissors; ties shoelaces; colous within the linesSkipsfluent speech; likes telling stories

Genetic Syndromes

SyndromeGenetic AbnormalityFacies/body habitusMedicalImage
Wolf-Hirschhorn4 deletionMicrocephaly; ocular hypertelorism; downturned mouth; short upper lip; short philtrum; micrognathia; prominent glabella; dysplastic ears; preauricular skin tags.Developmental delay; cleft lip/palate; hearing impairment; seizures; hypotonia; congenital heart defects; antibody deficiencies.
Williams7 deletionSmall, upturned nose; wide mouth; full lips; small chin; widely spaced teeth; long philtrum.Developmental delay; supravalvular aortic stenosis; hypercalcaemia; low birth weight; poor growth; hypotonia; outgoing personality.
TurnerX0 or mosaicismShort stature; wide carrying angle; short, webbed neck; low hairline on neck; wide-spaced nipples; small lower jaw.Lymphoedema; coarctation of the aorta; horseshoe kidney; infertility; amenorrhoea.
Rubinstein-TaybiCREBP geneBroad thumbs and big toes; downward slanting palpebral fissures; columella extending below the nares; talon cusps; grimacing smile; microcephaly; small mouth; high arched palate.Developmental delay; cryptorchidism; feeding difficulties; dental poblems; undescended testes; keloid scarring; increased risk with anaesthesia.
Russell Silver7 and 11Small, triangular face; prominent forehead; narrow chin; small jaw; down-curbing corners of the mouth.Low birth weight FTT; clinodactyly; uneven limb growth; developmental delay.
Prader-Willi15 (paternal) imprinting or deletionProminent nasal bridge; almond-shaped eyes; thin upper lip; short stature; obesity; small hands and feet;Hyperphagia; hypotonia; developmental delay; sleep apnoea; scoliosis; hypogonadism.
Piere-Robin2, 11 or 17.Cleft palate; micrognathia; glossoptosis.Feeding difficulty; noisy breathing; GORD.
PatauTrisomy 13Microcephaly; microphthalmia; polydactyly; low set ears; overlapping fingers.Developmental delay; holoprosencephaly; cataract; optic nerve hypoplasia; omphalocele; cleft palate; cutis aplasia; kidney anomalies; VSD.
NoonanLinked to several genes (PTPN11, RAF1, SOS1, KRAS, NRAS, BRAF)Short stature; low hairline at the back of the neck; high hairline at the front of the head; excess skin at the back of the neck; broad forehead; ocular hypertelorism; epicanthic folds; proptosis; small, upturned nose; low set ears; deep philtrum.Pulmonary valve stenosis; hypertrophic cardiomyopathy; pectus excavatum or carinatum; joint hyperextensiblity; cryptorchidism; development delay; clotting disorders; Arnold-Chiari malformation.
KlinefelterXXYNormal facies; tall stature; gynaecomastia; less body hair; broader hips.Osteoporosis, autoimmune disorders, infertile, weaker muscle strength, gynaecomastia, higher risk of breast cancer.
GoldenharUnknownIncomplete development of ear, nose, lip and jaw.Scoliosis; hearing loss.
EdwardsTrisomy 18Microcephaly; micrognathia; cleft lip/palate; upturned nose; palpebral fissures; ocular hypertelorism; underdeveloped thumbs and nails; rocker bottom feet.Kidney malformations; VSD/ASD; omphalocele; oesophageal atresia; developmental delay; arthrogryposis; choroid plexus cysts; seizures.
Down21 - non-disjunction causing trisomy 21; or Robertsonian translocation (14;21)Epicanthic folds; flat nasal bridge; protruding tongue; Brushfield spots; increased space between 1st and 2nd toes; single palmar crease; short stature; low set ears; brachycephaly.Developmental delay; hypotonia; ASD/VSD; ALL; hypothyroidism; Hirschprung's; infertility; otitis media with effusion; atlanto-axial subluxation.
Di George22q11 deletionHypertelorism; hooded eyelids; small ears and squared upper ear; small mouth, chin and side areas of tip of nose.Hypoplastic thymus; T cell deficiency; hypocalcaemia; hypoparathyroidism; learning disability; CHD (tetralogy of Fallot and conotruncal malformations); cleft palate; hearing loss.
Crouzon1st branchial archCranio-facial anomalies; low set ears; cranial synostosis; brachycephaly; exophthalmos; ocular hypertelorism; psittichorhina (beak-like nose); hypoplastic maxilla.Shorter humerus and femur; Meniere's disease; strabismus; acanthosis nigricans.
Cri du chat5p deletionSmall head and jaw; wide eyes; skin tags in front of eyes; round face with full cheeks; hypertelorism; epicanthal folds; down-slanting palpebral fissues; flat nasal bridge; down-turned mouth; micrognathia; low-set ears; short fingers; single palmar creases.Feeding problems; high-pitched cry; poor growth; severe developmental delay; cardiac defects (VSD/ASD/PDA).
Cornelia de LangeCohesin complex, CDLS1, CDLS2, CDLS 3Microcephaly; long eyelashes; long philtrum; synophrys (joined eyebrows); small, wide-spaced teeth; curved 5th finger; excessive body hair.Low birth weight; developmental delay; nystagmus; GORD; seizures; CHD; cleft palate; hypoplastic genitalia.
CockayneERCC8, ERCC6Microcephaly; short stature; sunken eyes; look aged.Premature aging; sensitivity to sunlight; xeroderma pigmentosum; contractures; dental caries; retinopathy; micropenis; tremors; basal ganglia calcifications; hypertension.
Bardet-Beidl (Laurence-Moon-Biedl)BBS genes in the basal body and ciliaTruncal obesity; polydactyly; normal facies.Retinitis pigmentosa; hypogonadism; renal failure; diabetes insipidus;diabetes mellitus; Hirschprung; anosmia
Angelman15 maternal imprintingDevelopmental delay (severe); often non-verbal; ataxia; frequent laughter/smiling; hand-flapping movements; short attention span; microcephaly; seizures.Developmental delay (severe); often non-verbal; ataxia; frequent laughter/smiling; hand-flapping movenets; short attention span; microcephaly; seizures.
AlagilleJagged1 or Notch 2 mutationProminent forehead; deep set eyes; moderate hypertelorism; small pointed chin; saddly nose; traingular facies.Butterfly vertebrae; biliary ducts narrow and malformed; peripheral pulmonary artery stenosis; Tetralogy of Fallot; ocular abnormalities; stroke/intracranial bleeding; dysplastic kidneys

IV fluid composition

Type of fluidNa+ (mmol/L)Cl- (mmol/L)K+ (mmol/L)Lactate (mmol/L)Ca++ (mmol/L)Glucose (g/L)Acetate (mmol/L)Mg (mmol/L)
Hartmann's1291095292---
4% albumin140128------
3% (hypertonic) saline513513------
Plasmalyte14098523273
0.45% NaCl with 5% glucose7575---50--
0.9% NaCl with 5% glucose150150---50--
0.9% NaCl150150------

Body surface area

Body Weight (kg)Surface area (m2)
401.3
391.3
381.2
371.2
361.2
351.2
341.1
331.1
321.1
311.1
301.1
291.0
281.0
270.97
260.95
250.92
240.90
230.87
220.85
210.82
200.79
190.77
180.74
170.71
160.68
150.65
140.62
130.59
120.56
110.53
100.49
9.50.47
90.46
8.50.44
80.42
7.50.40
70.38
6.50.36
60.34
5.50.32
50.30
4.50.28
40.26
3.50.24
30.21
2.50.19
20.16
1.50.13
10.10

This table was calculated using the Boyd equation

Body Weight (kg)Surface area (m2)
401.3
391.3
381.2
371.2
361.2
351.2
341.1
331.1
321.1
311.1
301.1
291.0
281.0
270.97
260.95
250.92
240.90
230.87
220.85
210.82
200.79
190.77
180.74
170.71
160.68
150.65
140.62
130.59
120.56
110.53
100.49
9.50.47
90.46
8.50.44
80.42
7.50.40
70.38
6.50.36
60.34
5.50.32
50.30
4.50.28
40.26
3.50.24
30.21
2.50.19
20.16
1.50.13
10.10

This table was calculated using the Boyd equation

If the height is known

Use Royal Children’s Hospital, Melbourne’s BSA calculator.

Exclusion period for infections

IllnessExclusion period
WormsNot necessary if treatment has commenced
WartsNot necessary
Viral gastroenteritisUntil diarrhoea-free and no vomiting for 24 hours
TyphoidNeed permission from Health Authority
TuberculosisNeed permission from Health Authority
ToxoplasmosisNot necessary
Streptococcal throatUntil has had 24 hours antibiotics and feels well
ShigellaUntil diarrhoea-free for 24 hours
Scarlet feverUntil has had 24 hours antibiotics and feels well
ScabiesUntil day after commencing treatment
SalmonellaUntil diarrhoea-free for 24 hours
RubellaUntil 4 days after onset of rash, or fully recovered
RotavirusUntil no vomiting or diarrhoea for 24 hours
Ross River virusNot necessary
RoseolaNot necessary
RingwormUntil 1 day after starting antifungal treatment
RSVNot necessary
PertussisUntil 5 days after starting antibiotics or 21 days from onset of coughing
Parvovirus (5th disease, slapped cheek)Not necessary
NoravirusUntil no vomiting or diarrhoea for 48 hours
Mumps9 days after onset of swelling
Mollusum contagiosumNot necessary
Meningococcal infectionUntil appropriate antibiotic treatment has been completed
Meningitis (viral)Until well
Meningitis (bacterial)Until received appropriate antibiotics
Measles4 days after onset of rash
LeprosyNeed permission from Health Authority
Legionnaire'sNot necessary
InfluenzaUntil well
ImpetigoUntil antibiotic treatment has started (cover any exposed sores with a dressing)
Hydatid diseaseNot necessary
HIVNot necessary
Herpes simplexNot necessary if can maintain good hygiene practice (otherwise until sores are dry)
Hepatitis CNot necessary
Hepatitis BNot necessary
Hepatitis AAt least 7 days after onset of jaundice
Head liceNot necessary if treatment given before the following day at child care
H. influenzae BUntil received at least 4 days antibiotics
Hand, foot and mouth (Coxsackie)Until all blisters have dried up (usually at least 5 after rash first appeared)
GiardiasisUntil diarrhoea-free for 24 hours
EBVNot necessary
DiphtheriaUntil 2 negative throat swabs (1st swab will be 2 hours after finished antibiotics)
DiarrhoeaUntil diarrhoea-free for 24 hours
CryptosporidiumUntil diarrhoea-free for 24 hours
ConjunctivitisUntil eye discharge has stopped (if infectious type of conjunctivitis)
CMVNot necessary
ChickenpoxUntil all blisters have dried up (usually at least 5 after rash first appeared)
CandidiasisNot necessary
CampylobacterUntil diarrhoea-free for 24 hours
AmoebiasisUntil diarrhoea-free for 24 hours

References

Recommended minimum exclusion periods for infectious conditions for schools, pre-schools and child care centre, National Health and Medical Research Council (Australia) – VIC, QLD

Guidance on infection control in schools and other childcare settings, Health Protection Agency (UK)

Immunisation schedule

Australian immunisation schedule

AgeImmunisation
BirthHepB
2 monthsHepB, diphtheria, tetanus, pertussis, Hib, polio (6-in-1); pneumococcal; rotavirus
4 monthsHepB, diphtheria, tetanus, pertussis, Hib, polio (6-in-1) (2nd dose); pneumococcal (2nd dose); rotavirus (2nd dose)
6 monthsHepB, diphtheria, tetanus, pertussis, Hib, polio (6-in-1) (3rd dose); pneumococcal (3rd dose); rotavirus b (3rd dose only needed for some brands)
6 months to 5 yearsinfluenza (in at risk groups only)
12 monthsHib; MenC; MMR
12-18 monthspneumococcal (in at risk groups only)
12-24 monthshep A (in at risk groups only)
18 monthsDiphteria, tetanus, pertussis; MMR; varicella
4 yearsDiphtheria, tetanus, pertussis, polio
10-15 yearsvaricella; HPV; diphtheria, tetanus, pertussis
15 years and overinfluenza; pneumococcal (in at risk groups only)

UK immunisation schedule

AgeImmunisation
2 monthsDiphtheria, tetanus, pertussis, polio, Hib, hep B (6-in-1); pneumococcal; rotavirus; men B
3 monthsDiphtheria, tetanus, pertussis, polio, Hib, hep B (2nd dose) (6-in-1); rotavirus (2nd dose)
4 monthsDiphtheria, tetanus, pertussis, polio, Hib, hep B (3rd dose) (6-in-1); pneumococcal (2nd dose); men B (2nd dose)
12-13 monthsHib (booster); Men C; MMR; pneumococcal (3rd dose)
2-8 years oldInfluenza (every year from September)
3 years and 4 monthsMMR (2nd dose); diphtheria, tetanus, pertussis, polio (4-in-1) pre-school booster
12-13 yearsHPV (two doses 6-24 months apart)
14 yearsDiphtheria, tetanus, polio (3-in-1) booster; Men A,C,W,&Y

USA immunisation schedule

AgeImmunisations
BirthHepB
1 or 2 monthsHepB (2nd dose)
2 monthsdiphtheria, tetanus, pertussis; Hib; polio; rotavirus; pneumococcal
4 monthsHepB (third dose); diphtheria, tetanus, pertussis; Hib; polio; rotavirus; pneumococcal
6 monthsHepB; diphtheria, tetanus, pertussis; Hib; polio (6-18 months); pneumococcal; rotavirus (for some brands only)
6 months to 18 yearsInfluenza (annual)
12-15 monthsHib, pneumococcal; MMR; varicella; HepA (with 2nd dose 6-18 months later)
15-18 monthsDiphtheria, tetanus, pertussis; varicella
4-6 yearsDiphtheria, tetanus, pertussis; polio; MMR; varicella
11-12 yearsDiphtheria, tetanus, pertussis; HPV (2 doses); meningococcal
16 yearsMeningococcal booster

New Zealand Immunisation Schedule

AgeDiseases covered & Vaccines
65 yearsDiphtheria & tetanus.nInfluenza (annually)
45 yearsDiphtheria & tetanus.
12 years, girls onlyHuman Papilloma Virus (x3 doses)
11 yearsTetanus/Diphtheria/Pertussis
4 yearsDiphtheria/Tetanus/Pertussis/Polio.nMeasles, Mumps, Rubella.
15 monthsHiB.nMeasles, Mumps, Rubella.nPCV-10
5 monthsRotavirus, Diphtheria/Tetanus/Pertussis/Polio/Hepatitis B/Haemophilus influenzae type b. PCV-10
3 monthsRotavirus, Diphtheria/Tetanus/Pertussis/Polio/Hepatitis B/Haemophilus influenzae type b. PCV-10
6 WeeksRotavirus, Diphtheria/Tetanus/Pertussis/Polio/Hepatitis B/Haemophilus influenzae type b (Infrarix-Hexa), 10-valent conjugated Pneumococcal (Synflorix)

ECG intervals by age

AgeHR(bpm)QRS axis (degrees)PR interval (sec)QRS interval (sec)R in V1S in V1R in V6S in V6
1st week90-16060-1800.08-0.150.03-0.085-26mm0-23mm0-12mm0-10mm
1-3 week100-18045-1600.08-0.150.03-0.083-21mm0-16mm2-16mm0-10mm
1-2 mo120-18030-1350.08-0.150.03-0.083-18mm0-15mm5-21mm0-10mm
3-5 mo105-1850-1350.08-0.150.03-0.083-20mm0-15mm6-22mm0-10mm
6-11 mo110-1700-1350.07-0.160.03-0.082-20mm0.5-20mm6-23mm0-7mm
1-2 yr90-1650-1100.08-0.160.03-0.082-18mm0.5-21mm6-23mm0-7mm
3-4 yr70-1400-1100.09-0.170.04-0.081-18mm0.5-21mm4-24mm0-5mm
5-7 yr65-1400-1100.09-0.170.04-0.080.5-14mm0.5-24mm4-26mm0-4mm
8-11 yr60-130neg 15-1100.09-0.170.04-0.090-14mm0.5-25mm4-25mm0-4mm
12-15 yr65-130neg 15-1100.09-0.180.04-0.090-14mm0.5-21mm4-25mm0-4mm
16 yr and over50-120neg 15-1100.12-0.200.05-0.100-14mm0.5-23mm4-21mm0-4mm

Normal vital sign values

AgeHeart RateRespiratory RateBlood Pressure (systolic)
14 years60-10016-2092-130
12 years60-11016-2090-126
10 years70-11016-2090-121
8 years70-11018-2286-118
6 years75-11518-2482-115
4 years80-12020-2678-112
2 years80-14020-2874-110
1 year80-16020-3072-110
6 months110-18025-3572-110
3 months110-18030-4570-104
1 month110-18030-5070-104
Newborn90-18040-6060-90

These parameters are based on APLS values.

Blood pressure centiles

If you’re wondering if your patient’s BP is over the 95th centile….here’s the table you need.

This data is extrapolated from the National Heart, Lung and Blood Institute

View Systolic BP Centile Charts

Age (years)BP CentileHeight - 5thHeight - 10thHeight - 25thHeight - 50thHeight - 75thHeight - 90thHeight - 95th
99th122123125127128130130
95th115116117119121122123
90th111112114115117119119
1050th9798100102103105106
99th120121123125127128129
95th113114116118119121121
90th109110112114115117118
950th959698100102103104
99th119120122123125127127
95th111112114116118119120
90th107109110112114115116
850th95959799100102102
99th117118120122124125126
95th110111113115117118119
90th106107109111113114115
750th9294959799100101
99th116117119121123124125
95th109110112114115117117
90th105106108110111113113
650th919294969899100
99th115116118120121123123
95th108109110112114115116
90th104105106108110111112
550th90919395969898
99th113114116118120121122
95th106107109111112114115
90th102103105107109110111
450th88899193959697
99th111112114116118119120
95th104105104109110112113
90th100101103105107108109
350th86878991939495
99th109110111113115117117
95th101102104106108109110
90th9799100102104105106
250th84858788909292
99th105106108110112113114
95th9899101103104106106
90th94959799100102103
150th80818385878889
5th10th25th50th75th90th95th
Age (years)BP CentileHeight Centile

View Diastolic BP Centile Charts

Age (years)BP centileHeight - 5thHeight - 10thHeight - 25thHeight - 50thHeight - 75thHeight - 90thHeight - 95th
99th858686888990
95th77787980818182
90th73737475767778
1050th58596061616263
99th84858687888889
95th76777879808181
90th72737475767677
950th57585960616162
99th83848586878788
95th757677787980
90th71727273747576
850th56575859606061
99th82828384858686
95th74747576777878
90th70707172737474
750th55555657585959
99th80808182838484
95th72727374757676
90th68686970717272
650th53535455565757
99th77787980818182
95th69707172737474
90th65666768696970
550th50515253545555
99th74757677787879
95th66676869707171
90th62636465666667
450th47484950515152
99th71717273747575
95th63636465666767
90th59596061626363
350th44444546474848
99th66676869707171
95th59596061626363
90th54555657585859
250th39404142434444
99th61626364656666
95th54545556575858
90th49505152535354
150th34353637383939
5th10th25th50th75th90th95th
Age (years)BP CentileHeight Centile

References

Baylor College of Medicine, Age-based centile charts

British Hypertension Society Guidelines

Levels of radiation from imaging

Typical Effective Dose (mSv)Number of chest X-rays (PA film) for Equivalent Effective DoseTime Period for Equivalent Effective Dose from Natural Background Radiation
Abdo CT84002.7 years
Chest CT52501.7 years
Head CT2100243 days
Barium enema84002.7 years
Upper GI63002 years
IVU31501 year
Lumbar spine1.575182 days
Skull x-ray0.1512 days
Chest x-ray (PA film)0.0212.4 days
Airline flight0.0212.4 days
  1. Average effective dose in millisieverts (mSv) as compiled by Fred A. Mettler, Jr., et al., “Effective Doses in Radiology and Diagnostic Nuclear Medicine:  A Catalog,” Radiology Vol. 248, No. 1, pp. 254-263, July 2008.
  2. Based on the assumption of an average “effective dose” from chest x ray (PA film) of 0.02 mSv.
  3. Based on the assumption of an average “effective dose” from natural background radiation of 3 mSv per year.

 
References

Radiation Emitting Products, US Food and Drug Administration, accessed online

X-ray Risk, accessed online

Cardiac anomalies and associations

DisorderCardiac Anomaly
WilliamsSupravalvular AS, PA stenosis
VATER/VACTERLVSD
TurnerCoA, bicuspid aortic valve, AS, hypertension, aortic dissection
Tuberous sclerosisRhabdomyoma
TAR (thrombocytopenia absent radius)ToF, ASD, dextrocardia
RubellaPDA, PA stenosis
PatauVSD, PDA, dextrocardia
NoonanPS, hypertrophic cardiomyopathy
MarfanAortic aneurysm, aortic or mitral regurgitation
KartagenerDextrocardia
Infant of diabetic motherTGA, VSD, CoA, cardiomyopathy, PPHN
HomocystinuriaMedial degeneration of aorta and carotids, atrial or venous thrombosis
Holt-OramASD, VSD
GoldenharVSD, ToF
Friedrich's ataxiaHypertrophic cardiomyopathy
Fetal warfarin syndromeToF, VSD
Fetal trimethadione syndromeTGA, VSD, ToF
Fetal alcohol syndromeVSD, PDA, ASD, ToF
Ehler's DanlosASD, aortic/carotid aneurysm
EdwardsVSD, PDA, PS
DownAVSD, VSD, ASD
Di GeorgeInterrupted aortic arch, truncus arteriosus, VSD, PDA, ToF
CrouzonPDA, CoA (occasional)
Cornelia de LangeVSD
CHARGEToF, truncus arteriosus, aortic arch anomalies
AlagillePeripheral PA stenosis