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Breast engorgement
Acrocyanosis
Caput Succedaneum
Feeding Cues
Skin Peeling
Note the fine, diffuse scaling and peeling
of the skin at thigh and soles. The
underlying skin is perfectly normal, soft,
and moist. There is no hair loss, shiny
membrane formation or signs of
inflammation. This is typically seen from
the second day of life and last a few days.
Skin Tags
Vaginal Discharge
Vernix Caseosa
Erbs Palsy
Contact Dermatitis
Cephalhematoma
Preterm
Oral thrush
Jaundice
Pastules
cradle cap
Umbilical granuloma
undecended testis
Angelman Syndrome
Fanconi anemia
fragile X syndrome
Cushing DiseasePituitary
Microadenoma
Diabetes
Goitre-autoimmune
GoiterDyshormonogenesis
HemihypertrophyBeckwith
Wiedemann Syndrome
GynecomastiaPuberty
ThelarcheBenign
Thrive
the failure to thrive and costal beading due
to rickets. Renal tubular acidosis (RTA) is
a disorder characterized by a normal anion
gap metabolic acidosis. this can be due to
either impaired bicarbonate
reabsorption/hydrogen ion excretion.
Proximal,distal,hyperkalemic and mixed
forms exist.
CushingIatrogenic
Craniopharyngioma
Buried Penis
Mucopolysaccharidosis
Mucopolysaccharidoses are group of
inherited, progressive diseases caused
by mutations of genes coding for
lysosomal enzymes needed to degrade
glycosaminoglycans. Short stature is
almost universal with a variety of other
systemic involvement. The skeletal form
resemble skeletal dysplasia.
Micropenis
Micropenis is defined as normally formed
penis that is at least 2.5 z scores below the
mean in length. In a full term newborn the
diagnosis of micropenis is made if the
stretched penile length his below 2 cm.
Micropenis is a known association of many
endocrine disorders such as growth
hormone deficiency, hypogonadotropic
hypogonadism
Thyroglossal Cyst
Thyroglossal cysts are usually seen
in the midline ofthe neck and may
extend up to the base of the tongue.the
swelling moves with swallowing.
Hypothyroidism may or may not be
associated.there is often functioning
thyroid tissue in these cysts.
McCune-Albright Syndrome
Noonan syndrome
Turner syndrome
this is caused by the chromosomal abnormality
of 45X0 or 46XX,the second X as ring
chromosome. Mosaic forms are also common.
Phenotypic features are short stature,webbed
neck, increased carrying angle, epicanthic
folds,low hair line and many other systemic
abnormalities such as coarctation
of aorta, horseshoe shaped kidneys
and streak ovaries.
Prader-Willi Syndrome
Russell-Silver Syndrome
Macro-Orchidia in Hypothyroidism
Pituitary-hypothalamic involvement is
not uncommon in histiocytosis. Note the
diffuse enlargement of the pituitary
stalk in the picture. Growth retardation
and diabetes insipidus are common in
pituitary disease caused by LCH
HypothyroidismCongenital
HypothyroidismJuvenile
LymphomaCutaneous T-Cell
Lymphoma
LymphomaTonsillar Lymphoma
Abdominal Distention
Note the infant has generalized abdominal distention with
transversely stretched umbilicus. The upper segment is more
prominent than the lower segment. A feeding tube is in situ to
aspirate the abdominal contents to monitor the color, frequency
and consistency of the aspirate. The veins over the abdomen are
prominent and some abdominal loops visible suggesting a
pathological cause. In all cases, anal patency should be
confirmed. When associated with recurrent vomiting, absent
bowel sounds, profuse vomitingclear or bilious,
constipation, failure to thrive, surgical cause needs to be ruled
out
Acholic Stools
Anal Agenesis
Beckwith-Wiedemann Syndrome
Achondroplasia
Fanconis Anemia
Inherited aplastic anemia characterized by:
Perioral hyperpigmentation.
Caf-au-lait spots.
Short stature, microcephaly, mental subnormality, skeletal abnormality.
Renal anomalies, hypogonadism
Deafness, ear malformation
GI anomalies
Cardiopulmonary anomalies
Laboratory diagnosis:
Progressive anemia with pancytopenia, low retic count
Increased HbF and presence of I antigen.
Bone marrow and trephine biopsy documents hypoplasia.
Cytogenetics show chromosomal changes like break, condensation, gaps, rearrangement, etc.
Dyskeratosis Congenita
Rare disorder characterized by:
Skin hyperpigmentation.
Dystrophy of nail.
Abnormality in the teeth.
Hair changes.
Leukoplakia.
Risk of malignancy.
Occular abnormalities. Blepharitis and cataract:
Growth retardation.
May develop initially single cytopenia, severe diminution in
megakaryocytes.
Noabnormalchromosomefragility.
80% evolve into aplastic anemia.
Wiscott-Aldrich Syndrome
Note
Kasabach-Merritt Syndrome
Glanzmanns Thrombasthenia
G6PD Deficiency
Sudden onset of severe pallor since 24 hours, preceded by
fever, cold and cough. Child treated by family physician.
Clinically NAD except severe pallor? Mild icterus. Low Hb,
increased reticulocyte count, WBC normal. On detailed
enquiry
History of aspirin given for high fever
Child is from Khoja community
G6PDDecolorization time 25 min.
Coombs direct and indirect Negative.
Treated with packed cell transfusion
G6PD repeated after 6 weeks decolorization time > 120 m.
Disseminated Intravascular
Coagulation
Disseminated intravascular coagulation is characterized by
activation of coagulation system resulting in generation of
uncontrolled formation of fibrin within the blood vessels leading
to microvascular thrombosis and consumption of platelets and
coagulation proteins resulting in variable bleeding symptom.
Patients with acute DIC are critically ill and diagnosis is based
upon platelet count PT, APTT, clotting
factors and inhibitors and presence of D Dimers. Fragmented red
cells, helmet cells are seen in the peripheral smear with reduced
platelet count.
Purpura Fulminans
Hereditary Spherocytosis
Umbilical Hernia
Common occurrence
Usually resolves spontaneously by 2 years age.
May get strangulated even in infancy.
Umbilical Polyp/Granuloma
Pinna-hematoma
Preauricular Sinus
Thyroid
This infant was left alone near hot water for bath, while
the mother went to get something. The infant
crawled/turned over and got burnt.
This infant was left alone near hot water for bath, while
the mother went to get something. The infant
crawled/turned over and got burnt.