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Sickle cell arthropathy

.Look at bent little finger on both side

Sickle cell arthropathy

Shortening of left lower limb due to avascular


necrosis of head femur

Sickle cell disease

A patient with Sickle cell disease had severe


abdominal pain. Surgeon thought it due to
acute appendicitis

He was operated but pain did not disappear after


surgery.He has sickle cell disease.

Sickle cell disease

see the painful facies

Intraosseous transfusion

Intraosseous transfusion in an 11-month-old


patient presented is shock due to dehydration

Extravasation injury

Palatal perforation

Palatal perforation in a patient suffering from


tertiary syphilis

Benign migratory glossitis


(Geographical tongue)

Fissured tongue

Foreign body

Ingestion of coin at upper esophagus

Foreign body nail

Foreign body nail in the duodenum

Foreign body bronchus

Picture 1. X-ray chest of patient presented with


chronic cough with no history of aspiration,
revealed collapse right lower lobe

Picture 2 .In spite of an adequate antibiotic for 10


days repeat X-ray shows almost no change,
which gives us an indication for diagnostic
bronchoscopy

Picture 3. peanut taken out from right lower


bronchus

Bitots spots

Bitots spots

Periorbital cellulitis

Rhinosporidiosis of conjunctiva

Congenital cataract

Lef

congenital ptosis

TOF

VATER

Neonate with VATER anomalies


X-ray showing vertebral defect,
imperforate anus

Lawerence moon biedle

P-1. Note the obesity polydactyly and


hypogonadism

P-2.Postaxial polydactyly and syndactyly

P-3.Hypogonadism

Potter

P1. Squashed facies, depressed nasal bridge, low


set ears

P-2.Fullness of abdomen, omphalocele

Osteopetrosis

P-1.Photograph showing failure to thrive,


macrocephaly, hepatospleenomegaly

P-2.X-ray depicting Bone within bone appearance

Poland

P-1.Left Poland sequence

P-3.X-ray showing Hypoplastic left limb with digital


defect

Lesch-Nyhan syndrome

P-1-2.Picture depicts the extent of facial injury


caused by self-injurious behaviour.

P3-4.Depicts the choroathetoid movement


exhibited by patient

KABUKI MAKE-UP SYNDROME

P-1. 4 years old female patient with


characteristic facial feature like tenting
eyebrows, everted outer one third lower
eyelids, long palpebral fissure

P-2. open mouth with tented upper lip.

P-3.Plain X-ray of hip joint displaying dislocated


right femoral head with pseudoarthrosis

P-4.Note the prominent fingertips (fetal pads)

DISORGANIZATION-LIKE SYNDROME

lumbosacral mass with duplication of foot.

APERTS SYNDROME

P-1.Unusual head shape, brachycephaly,


acrocephaly, proptosis, beaked nose

P-2. Syndactyly of finger and toes

CHARGE SYNDROME

P-1. Coloboma of iris at 5 and 7 O clock position

P-2.Vertical scar mark of operated VSD, with


absence of left depressor angularis oris muscle

MECKEL GRUBER SYNDROME

P-1. Huge occipital encephalocele, postaxial


polydactyly

P-2.Cleft lip and palate

P-3.X-ray revealing huge encephalocele

GOLDENHAR SYNDROME

P-1.Bilateral limbal dermoid,hemifacial microsomia


left half of face, ear abnormalities

P-2.

PROGERIA

P-1. X-ray chestAbsent clavicle

P-2.Six-year-old boy with alopecia, deficient


growth, facial hypoplasia, micrognathia,stiff and
partially flexed prominent joint Horse riding
stance

P-3.Skin thin with sclerodermatous changes,


nails hypoplastic, brittle curved and yellowish

P-4. X-ray hip joint coxa vulga (straight femur)

MORQUIOS SYNDROME

P-1.Seven-year-old patient with short neck,


short trunk, pectus carinatum,coarsefacies,genu
vulgus, kyphosis

P-2.Xray spine lateral view note the generalized


platy vertebrae

Hurler

P-1. A five-year-old child with coarse facies,


macrocephaly, thick lips, limitation of extension
of both upper and lower limbs

P-2. X-ray lumbar spine, short and anterior


wedging of thoracolumbar vertebrae.

P-3. X-ray wristnote the proximal tapering of the


metacarpals, coarse trabaculation and irregular
epiphysis

ALBINISM

P-1. tyrosinase negative albinism which is


characterized by white hairs

P-2.Tyrosinase positive albinism, which is more


common type, characterized by reddish blonde
hairs

ROBIN ANOMALAD

Micrognathia in Pierre robin

MARFANS SYNDROME

P-1. Note tall thin habitus with arachnodactyly.


P-2. Steinbergs sign

Turner

P-1.Newborn with webbing of neck, low posterior


hairline,edema of hand

P-2. Webbing of skin and low posterior hair line

P-3.Pedal edema

Noonan

Noonans syndrome. Six- year-old patient with


short stature, characteristic
facies,
pectus
excavatum, and wide spaced nipple. This
patient had systolic murmur
at
pulmonary
area, confirmed to have pulmonary stenosis
on echocardiography

Achondroplasia

P-1.Note large and prominent forehead, rhizomelic


shortening and lumbar lordosis

P-2.Normal parent of an achondroplastic


child,explains fresh mutation, here the recurrence
risk are small

Achondroplasia

P-1.X-ray skull - enlarge with significant midfacial


hypoplasia, hydrocephalus rarely presents, small skull base
with tight foramen magnum

P-2.Chest X-ray-small thorax, shortened and anteriorly


splayed ribs

P-3.X-ray spine shows short pedicle of vertebral bodies


with decreased interpedicular distance most marked in
the lumbar spine. Posterior vertebral scalloping which
persists through the life

P-4. X-ray pelvis- elephant ear- shaped iliac wings. narrow


sacrosciatic notches, flat acetabular roofs

Achondroplasia

Asphyxiating thoracic dystrophy.

P-1.Short stature with rhizomelic shortening of


limbs, with broad prominent forehead. (B) X-ray
upper limb. Note rhizomelic shortening

P-2. X-ray pelvis and legs Note short round ilea


crest and horizontal acetabular roof

Achondrogenesis

P-1.A stillborn infant with rhizomelic shortening of


limbs, head appears relatively large, short neck,
short thorax,

P-2.X-ray whole body reveals very short long


bones with metaphyseal widening, vertebral
bodies poorly mineralized.

THANATOPHORIC DYSPLASIA

P-1. Note very short bowed limbs, narrow chest with


large head,prominent forehead, depressed nasal
bridge, mid facial hypoplasia.

P-2. X-ray Pelvis with lower limb- Shortened long


bones with metaphyseal widening and cupping and
characteristically curved femur Telephone
receiver.The iliac wings are hypoplastic, narrow
sacrosciatic notches, severe flattening of vertebral
body gives H or Ushape in AP radiographs.

P-3. X-ray chest and abdomen revealed narrow


thorax along with classical skeletal abnormalities

SHORT RIB POLYDACTYLY


SYNDROME TYPE II (MAJEWSKI)

P-1. Polysyndactyly of palms and feet

P-2. Note midline cleft, depressed nasal bridge,


low set ears

P-3. X-ray revels shortening of limb, presence of


oval shaped tibia

SALDINO-NOONAN SYNDROME
(SHORT RIB-POLYDACTYLY TYPE I)

P-1. Infant with very narrow thorax, short


limbs, and postaxial polydactyly.

P-2.Severely shortened thorax, short ribs, small


pelvis, short tubular bones

P-3.Note polysyndactyly

TRISOMY 13 (PATAU SYNDROME)

P-1. Microcephaly with sloping forehead,


hypotelorism, small nose.

P-2. scalp defect in parieto-occipital area

P-3.Shows postaxial polydactyly in both hands.


There is flexion of fingers with overlapping and
camptodactyly.

P-4.Shows polydactyly of right foot

EDWARDS SYNDROME (TRISOMY 18)

P-1.Preterm, low birth weight baby with sloping


forehead.

P-2. See the feet profile which is convex and heel


prominent Rocker bottom foot.

P-3.Characteristic fisting in which second and fifth


finger overlaps the middle two

Down

P-1. note upslanting palpebral fissure, epicanthus


folds, prominent tongue, small nose, depressed
nasal bridge

P-2. A 10-year-old girl of Down syndrome, note


the Mongolian slant of palpebral fissure,
synophrys,epicanthus

P-3.Cliniodactyly with simian crease

KLINEFELTERS SYNDROME

P-1. Thirteen years presented with dyslexia, tall


stature (Lower segment more than the trunk),
pectus excavatum, hypogonadism. Karyotyping
revealed 47XXY.

P-2.Note the absence of secondary sexual


characteristic, no pubic hair, testicular size less
than 2 cm

AMBIGUOUS GENITALIA

Micropenis

A neonate with stretched penile length of less


than 2.5 SD

KOCHER-DEBRE-SEMELAIGNE SYNDROME

P-1. Hypothyroid boy with generalized


pseudohypertrophy of muscles athletic
appearance (Kocher-Debre-Semelaigne
syndrome).

P-2.Acquired hypothyroidism in 15-year-old girl


later confirmed as autoimmune thyroiditis.

P-3. Pubertal enlargement of thyroid gland

Congenital hypothyroidism.

P-1. 6 month old child, hypotonic with dry skin,


low-pitched hoarse cry, low body temperature,
macroglossia and umbilical hernia.

P-2. X-ray wrist for bone age. No carpel bone


ossification center is visible

Cushing syndrome

General obesity, round, plethoric moon face, and


increased skin folds.

Idiopathic precocious puberty

Patient aged 6 years with breast


enlargement. Osseous maturation advanced.

Gynecomastia

in 12-year-old boy. If the breast tissue is pinched


between thumb and forefinger and moved
upwards towards nipple a feeling of firm,
rubberyfeeling of glandular tissue underneath
nipple and areola is seen in gynecomastia

Erythema toxicum

(Flea bitten dermatitis of newborn)

Mongolian spot

P-1. One-month-old baby with an extensive


bluish macule covering almost whole of the
back and lower limb, anterior chest and
abdomen

P-2.Bluish macule over left lower quadrant of


abdomen in a two-year-old child. One has to
differentiate it from bruises when intentional injury
is suspected

Salmon patch

Salmon patch on both upper eyelids.

Milia

P-1. Ebstein pearl on the hard palate

P-2. Ebstein prepucial pearl at 5 o clock position.

P-3. Sebaceous gland hyperplasia over nose

Junctional nevus

Cutis marmorata

Note the reticular and mottled skin in a


premature newborn baby

Cephalohematoma

P-1. Note the left parietal cephalohematoma

P-2.Note the huge clearly demarcated and not


crossing the midline is left parietal hematoma in
clean shaved skull.

Cephalohematoma

P-1. A 9 months old child presented with


persistence of the cephalohematoma, examination
revealed bony consistency due to secondary
calcification

P-2. X-ray skull and CT scan skull confirms calcified


cephalohematoma

Mastitis neonatorum

P-1.Physiological enlargement of breasts typically


seen as symmetrical enlargement of breasts. It is
more common in post mature infants.

P-2. Cellulites of left breast. It is unilateral with


signs of inflammation, needs antibiotics for
treatment

SUPERNUMERARY NIPPLES

Neonatal teeth

Newborn with lower central incisor teeth

Neonatal vaginal tag


bleeding

Neonatal vaginal

P-1. It projects from hymen and of no clinical


significance and it disappears in few days

P-2.Note the stains of blood around labia

Sternocleidomastoid tumor

Milia crystallina

Note the tiny pinpoint white vesicles around nose


and cheeks

Miliaria rubra

There is discrete erythematous papule vesicles


and papulo vesicles surrounded by erythema

acne neonatorum

Neonate with typical facial distribution of acne


neonatorum

Bullous impetigo

Lesions are common in moist region like groin,


axillary folds, neck and presents as superficial
bullae, which are wrinkled, and rupture easily
producing ulcers and crusts

Infant of diabetic mother

P-1.See the plumy plethoric infant with cushingoid


facies

P-2.Note the hairy pinna.

Beckwith-Wiedeman syndrome

P-1. Large for date baby presented with


hypoglycemic convulsion, omphalocele,
macroglossia, polydactyly

P-2. Note horizontal ear lobe crease

Absence of depressor angularis oris muscle

P-1. Absence of right depressor angularis oris


muscle in the same child during cry.

P-2.Facial palsy Absence of DAOM has to be


differentiated from facial palsy. In facial palsy
affected side eyes remains open, absence of
nasolabial folds and mouth droops and drawn
towards healthier side

Amniotic band syndrome

P-1. Amputation of both feet.

P-2.Amputation of half upper limb

Congenital syphilis

Desquamation and exfoliation of palms and soles


with no rash elsewhere is highly suggestive of
congenital syphilis

ORAL THRUSH

Birth trauma

Birth trauma

Erbs palsy

Hemorrhagic disease of newborn

P-1. Profuse bleeding from cord, with prolong PT


and PTT and normal platelet count. This patient
responded with injection vitamin K and FFP

P-2.Bleeding from oral cavity appeared on day 2,


responded well by injection Vitamin K, his mother
was on phenytoin during her pregnancy period.

P-3 .Malena in newborn period. This was


swallowed maternal blood which was confirmed
by Apt test

Twin to twin transfusion

shows the pale donor twin (on the left) and


the plethoric recipient (on the right)

Epignathus

P-1. Extremely premature baby with epignathus.

P-2.Full term baby with the mass from the hard


palate

Sacrococcygeal teratoma

a.

Ophthalmia neonatorum

Non immune hydrops

Abortus dipicting the picture of hydrops.

Malformation of ear

P-1. Unusually prominent ear or lop ear.

P-2. Preauricular skin tag with abnormal pinna.

P-3. Preauricular skin tag, malformed pinna and


absent auditory canal.

P-4.Preauricular skin tag with large tragus

ABSCESS

Dermoid cyst

A left external angular dermoid in a 4-year-old girl

Thyroglossal duct cyst

P-1. Cyst moves upwards on tongue protrusion

Cystic hygroma

P-1.Cystic hygroma from the neck extending into


axilla.

P-2.Another cystic hygroma in the neck.

P-3.Bilateral cystic hygroma

Preauricular sinus

P-1.Bilateral preauricular sinus in the father.


P-2. Preauricular sinus in his 4-year-old son

Cleft lip and palate

Inguinal Hernia

P-1.Complete right inguinal hernia.

P-2 .Incomplete right inguinal hernia

UMBILICAL HERNIA

LUMBAR HERNIA

Bilateral lumbar hernia

Cutis Verticis Gyrata

P-1. Family with cutis verticis gyrata with care


taker.

P-2.Vertical skin folds over scalp

NEUROCYSTICERCOSIS

P-1.White flat ribbon like adult parasite Taenia


solium.

P-2. A boy infested with Taenia solium has passed


adult worm in stool. His parent brought the
specimen to us with curiosity

P-3.CT scan head depicting single ring enhancing


lesion with surrounding edema

Proboscis Lateralis

Proboscis Lateralis and complete absence of


left nostril

Fibular hemimelia

P-1. Fibular hemimelia of right limb, note the


absent lateral rays, and a cutaneous dimple
corresponds to pseudoarthrosis of tibia

P-2.Fibular hemimelia of right foot in a


newborn.

P-3.X-ray depicting pseudoarthrosis of tibia and


absent fibula.

BLEPHAROPHIMOSIS SYNDROME

note blepharophimosis, ptosis and epicanthus


inversus

MILROY-HERIDITARY LYMPHEDEMA

Milroys disease. 3 months old infant with bilateral


lower limb edema with hypertrophy of penile skin

Macrodystrophia lipomatosa

Macrodystrophia lipomatosa of second toe of right


foot

RHINOSPORIDIOSIS

sessile mass projecting out from the upper


conjunctiva

FOREIGN BODY NOSE

P-1. Patient with unilateral nasal discharge,


retracted right nostril is depicting foreign body
inside it.

P-2.A piece of sponge was taken out from the right


nostril

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