15. Trisomy 18 (Edward’s Syndrome)
•2nd most common trisomy
•MR, Hypertonia, small faces, clenched hands, rocket bottom feet. Survival ~ 1
year
16. Patu Syndrome (Trisomy 13)
•Mid-line defects
•Severe MR, colobomas, microophthalmia
•Cleft lip palate
•Prognosis is poor, dead within the 1st month of life
17. Turner Syndrome
•Incidence: 1:2000
•Short webbed neck, short stature, broad chest, swelling of hand and foot,
ovarian dysgenesis, horse-shoe kidney, Bicuspid aortic valve and
coarctation of aorta
18. Fragile X –Syndrome (Martin-Bell
Syndrome)
•X-linked caused by CGG repeat, trinucelotide repeat. Its more severe in male. Most
common inherited cause of MR
•Incidence 1:1250 in males and 1:2500 females
•Mild to severe MR, Large ears, macocephaly
•Large testes, autism, ADHD, diagnosis by chromosomal analysis
20. Klinefelter Syndrome
•XXY
•Most common cause of male hypogonadism and infertility, increased risk with maternal
age
•Incidence 1:500 male births !!!
•Tall with tall extremities, hypogonadism with delayed puberty, gynecomastia, variable
intelligence, antisocial
21. Fetal Alcohol Syndrome
IUGR, FTT, Microcephaly, long smooth philtrum,
Smooth upper lip, MR, Hyperactivity and VSD
22. Osteogenesis Imperfecta
•AD. Defect in type I Collagen
•Blue sclera, fragile bones, yellow-blue teeth, easy bruising
•Diagnosis: clinical features + low collagen type 1 in fibroblast
•Complications: hearing loss, skeletal deformities, genu valgum (knocked-knee)
23. Williams Syndrome
•Deletion on chromosome 7 AD. Gene for elastin
•Elfin faces: short palpebral fissure, flat nasal bridge and round cheeks
•Mental retardation
•Aortic stenosis
•Hypercalcemia in infancy
•Diagnosis: FISH
24. Cornelia De Lange Syndrome
•Inheritance is mostly sporadic but can be AD
•Single eye bow, microcephaly, micrognathia
•Short stature
•Infantile hypertonia & Mental retardation
•Cardiac problems
25. Cornelia De Lange Syndrome
SGA, Micrognathia, hypertonia, microcephaly, MR, Cardiac defects
Sporadic or AD
28. Cri-Du-Chat
•Partial deletion on the short arm of chromosome 5 sporadic.
•Microcephaly, downslanting palpebral fissure, cat like cry
•Mental retardation
29. Wolf Hirschhorn Syndrome
•Results from the deletion of the short arm of
chromosome 4
•Craniofacial: microcephaly, micrognathia and
short philtrum, dysplastic ears and periauricular
tags
•Neuro: growth retardation, hypotonia, seizures
•CHD
•Antibodies: deficiency of IgA
30. Prune Belly Syndrome
• A partial or complete lack of abdominal wall
muscles. There may be wrinkly folds of skin
covering the abdomen.
• Cryptorchidism (undescended testicles) in males
• Urinary tract abnormality such as unusually
large ureters, distended bladder, accumulation
and backflow of urine from the bladder to the
ureters and the kidneys (vesicoureteral reflux)
• Frequent urinary tract infections due to the
inability to properly expel urine.
• Ventricular septal defect
• Malrotation of the gut
• Club foot
• Later in life, a common symptom is post-
ejaculatory discomfort. Most likely a bladder
spasm, it lasts about two hours.
• Musculoskeletal abnormalities
32. Sturge Weber Syndrome
•Sporadic disorder with a port-wine stain in the distribution of the trigeminal nerve
associated with a lesion intracranially. The ophthalmic deviation of the V nerve is always
involved
•Intracranial calcification on skull X-ray
•Can result in epilepsy, MR and hemiplegia. High risk of glaucoma!!
35. Hurler Syndrome
Mucopolysaccharidosis autosomal disease
Baby present with developmental delay, hepatosplenomegaly with coarse facial features
Death is common in childhood as a result of respiratory/pulmonary compromise
37. Achondroplasia
It is the most common genetic form of skeletal dysplasia. Prominent
forehead, stubby fingers, lumbar lordosis and intelligence is normal
Complications: hydrocephalus, apnea and sudden death 2ry to bony over
growth at foramen magnum
57. Kartagener Syndrome (AR)
Immotile Cilia Syndrome
•Dyfunctional cilia resulting in abnormal airway clearance.
•Patients with KS will have (Situs inversus, chronic sinusitis, otitis media and airway
disease) – they usually have a normal life span
66. Retropharyngeal Abscess
•Infection between the posterior
pharyngeal wall and the prevertebral
fascia results in a retrophryngeal
abscess. The most common organisms
are S. aureus and GABS
•History of pharyngitis, fever, sore
throat, drooling
•Rx: incision and drainage
77. Supraventricular Tachycardia
•Rate ~ 250 bp/min
Management:
•Vagal stimulation: ice-pack to face, unilateral carotid massage, place child upside
down, pressure in the orbit convert it to sinus tachycardia
•IV adenosine: to convert it to sinus rhythm
•Chronic medical Rx: digoxin, propanolol,
•Radiofreq catheter ablation: to destroy the accessory pathway.
83. 2nd Degree Heart Block
(Mobitz-I)
Progressive lengthening of the PR wave until we skip a QRS (skip a beat),
usually asymptomatic
84. 2nd Degree Heart Block
(Mobitz-II)
PR is the same will not lengthen just a sudden drop in the beat
85. 3rd Degree Heart Block
Complete Block of the AV Node (No Conduction
From Atrium to Ventricle)
Atria and ventricle beats independently of each other
Caused by maternal SLE
86. ETIOLOGY of Heart Block
•Post surgical AV block
•Bacterial endocarditis can result in AV block
•Clinical features: syncope, fatigue, sudden death
•Rx: Pacemaker for symptomatic AV block
90. Hyperkalemia
Hyperkalaemia is defined as a potassium level > 5.5 mEq/L
Moderate hyperkalaemia is a serum potassium > 6.0 mEq/L
Severe hyperkalaemia is a serum potassium > 7.0 mE/L
103. Ectopic Thyroid Gland
•One of the causes of congenital
Hypothyroidism accounting for
1/3 of cases of
•Thyroid dysgenesis (90% of
congenital hypothyroidism)
116. Ataxia Telangictesia
It’s an autosomal recessive disorder
Problems with DNA repair
1- Ataxia
2-Low IgA
3- Increased risk of ALL 10%
4- High serum alfa-feto-protein
117. Gray Baby Syndrome
Gray baby syndrome = chloramphenicol toxicity
Inability to metabolize the drug due to reduced
activity of the enzyme UDGT (Glucoronyl
Transferase) in neonates (especially premature)
123. Heel Prick Test
Usually done at day 5, it’s a screening test for:
•Galactosemia
•Immunoreactive trypsinogen to detect cystic fibrosis.
•Maple syrup urine disease
•MCADD
•PKU
•SCD
•Congential hypothyroidism
129. Cradle Cap
•Greasy, yellow scaly patches over the scalp
•May spread to face, ear and nappy area(infantileSeborrheic dermatitis )
•Possibly due to overactive sebaceous glands in the skin of newborn babies
•Not itchy (NO pruritis)
•Treatment with mild baby shampoos. Wash regularly and brush softly to remove
scales
•Baby oil can help soften scales (not olive oil!)
•Resolves by 6-12mths
•If fails to improve = Try topical steroids+/- antifungal
133. Chickenpox
•Begins as an itchy red papules progressing to vesicles on bright red base (dew
drops on a rose petal) on the stomach, back and face, and then spreading to other
parts of the body
•Central umbilication of blisters follows rapidly, crusting and desquamation
within 10 days
•Fever, sore throat, anorexia, malaise may precede rash by several days
•Incubation 7-21 days
•Symptomatic treatment in immunocompetent
• Cool compress, calamine lotion, antihistamines
134.
135. Measles
•Prodrome; fever, malasie, dry cough, coryza,
conjunctivitis, photophobia
•Koplik spots on buccal mucosa
•Rash 3-4th day of illness
•Starts on face as blanching red macules and
papules, non itchy
•Spreads down trunk and extremities
•Rash coincides with high fever
•Lesions become confluent, older lesions develop
rusty hue
•Contagious 4 days before rash and 4 days after
136. Roseola Infantum
•Also called exanthema subitum or sixth
syndrome
•Herpes virus 6
•High fever followed by macular rash
•Mild cervical lymph nodes
•MIS-diagnosed as measles or rubella
•Diagnose by serology
•Treat symptomatic
137. Erythema Infectiosum
•Also called Slapped cheek syndrome or Fifth
disease
•Caused by parvovirus 19
•Young school aged children
•Usually asymptomatic
•Aplastic crisis in haemolytic anaemias(Sickle cell
/ Thalasemia)
•In pregnancy –fetal complications
139. Atopic Eczema (Atopic Dermatitis)
Infants
◦ Infants less than one year old often have widely distributed eczema.
◦ The skin is often dry, scaly and red with small scratch marks made by sharp
baby nails
◦ The cheeks of infants are often the first place to be affected by eczema.
◦ Readly infected with Staph or Strep or rarely herpes
140. Ahealthy 6 yr old boy had developed multiple papules on arm.leg ,trunk
What is the lesion ?
141. MOLLUSCUM CONTAGIOSUM
•Common in school children with DNA pox virus
•Spread by contact and scratching lesions
•PEARLY Papule with cental UMBLICUS
•Spontaneous resolution in 6-9 mo(can last years)
•Advise to separate Towels and Bath
•Occasional Treated by CRYOTHERAPY
142. A2 yr old girl is seen in HC with diffuse intense itching.All family member
are itching-Interdigital lesion , papulovesicle
What is the lesion?
143. SCABIES
•An irritative reaction to female mite Sarcoptes scabiei
•Transmission by direct contact
•Scabies Burrows/Rash
•Widespread itchy reaction to mite,their egg and excreta after 4-6 wk
•Erythematous papule,pustule,excoriation
•Lab Diagnosis by removal of mite or egg by KOH soln over a burrow, scraping with
needle and see under MICROSCOPE
Treatment
• Treat patient and all close contact
• Topical Scabicide: Permethrin cream after a bath to whole body(and Head <2 yr)
• Wash all bed linen and immediate clothes
144. A6 yr old boy had painful nodular lesion after sore throat over the shin
What is the lesion?
145. Erythema Nodosum
•Painful shinny,hot red elevated oval nodule over the shin, female>male
Causes:
• Infection: Strep,Mycoplasma,TB
• IBD: Crohn , Ulcerative colitis
• Autoimmune: Sarcoidosis, SLE
• Drugs: Sulphonamides,oral contraceptive
•Treament: bed rest, NSAID, treat the cause
146. Umblical (UH) & Inguinal Hernia (IH)
UH
•Common in afro-Caribbean
•May increase in size in first few month
•Not painful, not tender, easily reducible
•Most disappear by 1 year
•Consider hypothyroidism (Cretin)
•Refer for surgery if persist by 4 yr
IH- an emergency-Refer to Surgeon
147. Gastroschisis
•Opening in an abdominal wall present to the right to the umbilicus
•Often diagnosed on prenatal ultrasound
•Managed by placement of plastic bag followed by surgical repair
148. Ambiguous Genitalia
Congenital Adrenal Hyperplasia (CAH)
•CAH most common cause of ambiguous genitalia
•21-Hydroxylase deficiency is the most common
•Investigations:karyotype, serum electrolyte, abdominal
ultrasound & hormone assay
Management:
•Replace hormone (cortisol/testosterone)+
reconstructive surgery
151. Achondroplasia
•Autosomal dominant
•Most common skeletal dysplasia
•Short stature, macrocephaly,flat midface with
prominent forehead
•Associated hydrocephalus,dental
malocclusion,hearing loss
•Normal intelligence and normal life spans
153. Supra-Ventricular Tachycardia
•Most common arrhythmia in children's
•Narrow QRS complex ,difficult to find P wave.
•Heart rate >200 usually idiopathic-Rarely Wolff-Parkinson syndrome
•Vagal stimulation—carotid sinus message,cold ice pack to face
•I/V adenosine if stable and not in shock
•Synchronised DC shock if in shock?
157. AeroChamber with Mask
•Used in Children for delivery of drugs in Asthma (inhaled steroids/ventolin) with
inhalor.
•Better coordination and deposition of drugs in lung in small Kids
Autosomal dominant disorder charactrized by the paucity of the intrahepatic bile duct and multiorgan involvement
2/3 of patients have abnormality on chromosome 20
Clinical features:
1-cholestatic liver disease
2-faces; broad forehead, wide spaced eyes, saddle nose with bulbous tip, pointed chin and large ears
3-cardiac: pulmonary outflow obstruction
4-renal anomalies
5-eye anomalies
6- butterfly verterbrae and broad thumb
7-FTT and short stature
8-pancreatic insufficieny
9-hypercholsterolemia
Management is supportive
Autosomal dominant with variable penetrance
Hyperplasia of the brow, broad nasal bridge, partial albinism and deafness