Malformations Flashcards
Case
5month old/ male from Binondo, Manila
CC: hypotonia
History of Present Illness
Patient was born FT to a 29 year old G2P0(0010) mother via SVD at
a lying-in clinic. Noted to have nomal weight and length at birth but hypotonic. Noted to have palpable anterior fontanel at 3 months. Currently with feeding difficulties and sluggish movement.
Ancillary History
Past Medical History: no history of asthma , newborn screening
negative
Family Medical History: (-) Family history of bronchial asthma, no
history of malignancy
Immunization history: given BCG x 1 dose, OPV x 3 doses,
Hepatitis B x 3 doses, DPT x 3 doses , measles x 1 dose c/o the
local health center.
Nutritional History: breastfed for one month only then shifted to
formula feeding
Developmental History: no head support at 5months
Personal/Social History: lives in a rented apartment, father works
as a hardware store clerk while mother stays at home
PHYSICAL EXAMINATION
General Survey
Awake, not in cardiorespiratory distress
Anthropometrics
Weight =6 kg, length =61 cm
Vital signs
BP 80/50 HR 102 bpm RR 32 bpm T 36.5C O2 sats (room air) =
100%
Skin
No rash
Head and Neck
Closed fontanels, pink conjunctivae, anicteric sclerae, flat midface,
(-) nasal congestion, (-) cervical lymphadenopathies
Chest and Lungs
Equal chest expansion, (-) retractions, (-)rales, (-) wheezes, (+)
redundant nuchal skin
Cardiac
Adynamic precordium, normal rate and regular rhythm, (+)gr 2/6
holosystolic murmur along lower L sternal border with no
radiation
Abdomen
Normoactive bowel sounds, (-) masses/tenderness, (-)
hepatomegaly, intact Traube’s space
Genitalia
(+) micropenis
Extremities
Full and equal pulses, (-) edema/cyanosis/clubbing, wide space
between first and second toes, CRT less than 2 sec
NeuroPE
(+) increased range of joint movement, flaccid heel cords,
hyporeflexia
LABORATORY RESULT:
CBC
Date Normal*
WBC 5 x109/L
RBC 3.1x109/L
Hgb 90 g/L
Hct 0.33%
MCV 95fL
MCH 25 pg
Platelets 350x109/L
Neut% 0.7
Lymph% 0.3
Mono% 0.0
Eo% 0.0
Baso% 0.0
TSH: Normal
FT4: normal
Karyotyping: 47, XY with 14q21q translocation
2Decho: (+) VSD
Holoabdominal UTZ: normal
Cervical xray: (+) atlantoaxial subluxation
What is your primary working impression?
Primary Working Impression
Trisomy 21
basis of diagnosis
Basis for Diagnosis
(10) History
Hypotonia
Sluggishness
(+) history of open anterior fontanel at 3mo
Normal weight and length at birth
Short stature
no head support at 5months
Physical Examination
Flat midface
Redundant nuchal skin
(+)gr 2/6 holosystolic murmur along lower L
sternal border with no radiation
Micropenis
wide space between first and second toes
(+) increased range of joint movement,
flaccid heel cords, hyporeflexia
What are your differential diagnosis for this case?
Hypothyroidism
Hypotonia
Sluggishness
Short stature
Developmental delay
Normal TSH, FT4
Normal NBS result
Turner syndrome
Redundant nuchal skin
Developmental delay
Short stature
With characteristic
phenotypes
MC CHD are coarctation of
the aorta and bicuspid
aortic valve
Ambiguous genitalia
Occurs in females
Malnutrition
Short stature, Developmental
delay
Malnutrition cannot
explain other PE findings
Battered child/ neglect
Short stature
Developmental delay
Other physical examination
cannot be explained by
neglect
What is your plan of management for this patient?
Diagnostic Tests/Labs
Clinical Diagnosis
Holoabdominal ultrasound - To search for
other midline defects
karyotyping
CBC – macrocytic with reticulocytopenia. If
symptomatic, should include BMA to rule
out leukemia
Radiologic screening for atlantoaxial subluxation
j. Management
b.1. Goals of Management:
Non-pharmacologic management
Vision screening, hearing screen, language
screening
Refer to Genetics for Genetic counselling
Refer to Endocrinology for possibility of
infertility
b.2. Anticipatory care
Proper nutrition to decrease risk for obesity, DM, OSA
Prevention of injury
Update of immunization
TRISOMIES
DOWN SYNDROME/ TRISOMY 21
- MC genetic cause of intellectual disability
- Inc risk for maternal age >35 yo
- Genetic disorder caused by the presence of all/a
portion of chromosome 21
What are the clinical manifestations of Trisomy 21?
CM:
*Hall’s criteria for Dx = underlined
in neonate:
1. CNS – hypotonia, devtl delay, poor moro, learning
disability, sz, early-onset Alzheimer ds
2. Craniofacial – hydrocephaly with flat occiput, flat face,
upward slanted palpebral fissures, small nose, flat
nasal bridge, protruding tongue, small dysplastic ears,
delayed fontanel closure
3. CV – endocardial cushion defects, AVSD (MC), PDA,
pulmo HTN, TOF
4. Ms – joint hyperflexibility, short neck, redundant skin,
short MCA, short 5th digit with clinodactyly, single
transverse palmar crease, wide gap between 1st and 2nd
toes, pelvic dysplasia, short sternum
5. GI – duodenal atresia, TEF, Hirschsprung disease,
imperforate anus, neonatal cholestasis, GERD, celiac ds
6. Hema – neutrophilia, thrombocytopenia,
polycythemia, transient leukemia, Leukemias (60%, 10x
higher risk)
7. Cutis marmorata
8. Endo – hypothyroidism, delayed puberty, IGF-skeletal
maturation delay, short stature, DM,
overweight/obesity
- Short stature is a cardinal fx. GH not indicated
9. Ocular – cataract, strabismus, amblyopia, nystagmus,
amblyopia, nystagmus, refractive errors, iris anomalies,
glaucoma
10. ENT – conductive/SNHL
11. Developmental delay is universal. Difficulty with
expressive language. Delay in all areas of devt.
12. Misalignment of C1 plexuses – places them at risk for
SC injury with neck hyperextension/ extreme flexion
13. Sterility M>F
What are included in the Hall’s criteria?
hypotonia
poor moro
flat face
small dysplastic ears, delayed fontanel closure
joint hyperflexibility, short neck, redundant skin, short 5th digit with clinodactyly
pelvic dysplasia
For screening and surveillance:
For screening and surveillance:
- Devt’l delay, sz, ASD, depression, Alzheimer’s ds,
hearing loss, EOR, hyper/hypothyroidism, DM, obesity,
OSA, freq infections, cataracts, nystagmus, CVD (50%)
Diagnostics
Dx
1. Intrauterine – quad screen (b-HCG, unconjugated
estriol, inhibin, AFP) at 2nd trim (80%), USG (nuchal
translucency >3mm, no nasal bone, ductus venosus
2. Chromosome analysis for all suspected cases +
parental chromosome studies
Management of Trisomy 21
Mgt
1. Health supervision and referral to
a. Geneticist – karyotyping, ID recurrent down
syndrome (Robertsonian translocation)
b. Cardio – CHD at birth.
- 2D echo: should be done within the 1st 2-3 mos
c. Ophtha – 6 mos, annually
d. ENT – birth, 3 mos annually
e. Endo – MC thyroid dysfunction (CH, subclinical hypothy, thyroid autoimmunity: Hashimoto’s/Grave’s)
Anticipatory guidance
Anticipatory Guidance:
Birth-1mo: referral to early intervention services and tx.
- Chromosomal karyotype to confirm the dx, genetics
- Cardiac evaluation
- Objective hearing evaluation (BAER, OAE)
- Ophtha examination
- TFT
1mo-1yo: repeat referral
- repeat hearing evaluation periodically at 9-12mos with
behavioral audiometry
- eye exam
- TFT at 6-12 mos and then annually
- Monitoring sleep problems (OSA), heart problems, sz
- Update of immunizations
1-5yo: review of early interventions (PT, OT)
- Continue periodic hearing evaluation: pure tone
audiograms q6m then yearly
- Eye exam, cardiac, immunizations
- Biannual dental care from 2yo
- Lateral spine XR at 3-5yo to look for atlantoaxial
instability
- Screening for celiac ds at 2yo
- Referral to pedia sleep lab for sleep study or
polysomnogram at 4yo
- CBC annually
- Behavioral and social progress monitoring: ADHD,
autism, psychiatric, behavioral problems
- Sexual abuse prevention – only reason anyone should
look/touch a private part is for health or hygiene
5-13yo:
- Monitor growth, esp BMI. Obesity prevention
- Optha evaluation q2y, annual hearing assessment
- TSH annually. Cardiac referral annually.
- CBC, CRP, ferritin, reticulocyte annually – IDA screen
- Sports advise – inc risk of SC injury
- Neuro eval – WOF sz and sleep problems
- Biannual dental care
- Monitor behavioral problems/changes that interfere
with function in home, community/school
- Teach self-care and encourage independence on
hygiene
What is PATAU Syndrome?
- Extra copy of chromosome 13
What are the clinical manifestations of Patau syndrome?
CM
1. Cleft lip (often midline)
2. Flexed fingers with polydactyly
3. ocular hypertelorism, bulbuous nose, low-set ears,
microcephaly, microphthalmia, sloping forehead
4. CHD – VSD, PDA, ASD in 80%
5. Deafness
6. Clinodactyly
7. Hypoplasic/absent ribs
8. Significant neurodevelopmental delay
High lethality 91% by 1 yo
