Professional Documents
Culture Documents
Periocular Capillary
Hemangioma
Orbital Rhabdomyosarcoma
Crouzon Syndrome
Downs Syndrome
Sturge-Weber Syndrome
Neurofibromatosis (NF)
Goldenhar syndrome
Marfans syndrome
Hydrops
Gastroschisis
Inguinal Hernia
Erbs Palsy
in-toeing
flat feet
Tuberculous Dactylitis
Tuberculosis Ankle
Thalassemia
Scurvy
Rickets
Perthes Disease
Meningomyelocele
Note the defect over the lumbar spine with visible lesion
with intact skin cover with no discharge, protruding from
the spinal canal containing the spinal cord with the
meninges suggesting a meningomyelocelea neural tube
defect. Such infants also have affection of the nerves to
the bladder, bowel and lower extremities. The higher the
level of the defect, the more severe the associated nerve
dysfunction and resultant paralysis. It may occur in
isolation or with other congenital malformations including
midline defects.
Omphalocele
Note
birth defects.
Pierre-Robin Sequence
Polycythemia
Ambiguous Genitalia
Collodion Baby
Epidermolysis Bullosa
Marasmic Kwashiorkor
Kwashiorkor
Dermatosis of Kwashiorkor
Micronutrient Deficiency
Marasmus
Marasmus
Vitamin A Deficiency
Rachitic Rosary
Vitamin A Deficiency
Apert SyndromeFacies
FundusChoroid Tubercles
Hypomelanosis of Ito
Xeroderma pigmentosum
Miller-Dieker syndrome
Incontinentia Pigmenti
Caused by a genetic defect in X chromosome
Clinical manifestations: Infants with IP are born with streaky,
blistering areas. When the areas heal, they turn into rough
bumps.Eventually, these bumps go away, but leave behind darkened
skin, called hyperpigmentation. After several years, the skin returns
to normal. In some adults, there may be areas of lighter colored skin
(hypopigmentation).
CNS features
Delayed development
Loss of movement (paralysis)
Mental retardation
Muscle spasms
Seizures.
Kawasaki disease
Acute Osteomyelitis
Spondylolisthesis
Osteogenesis Imperfecta
Fungal dermatitis
Muscular Torticollis
Idiopathic Scoliosis
Fibular Hemimelia
ciated
Chronic Osteomyelitis
Sacrococcygeal Teratoma
Wilms Tumor
Testicular Torsion
Symptoms:
Sudden pain and swelling of scrotum
Age first few years or prepubertal.
Affected testis rides higher and is scrotum is red
and tender.
Absence of cremasteric reflex is diagnostic.
Diagnosis: Mainly clinical but if available in
emergency USG Doppler or nuclear scan for blood
flow may help.
Any doubt: Surgical exploration should be done
PUJ obstruction
Neuropathic Bladder
Symptoms:
Incontinence, straining, wetting, recurrent urinary
infections.
Usually associated problems with defecation also
such as incontinence or soiling.
Seen in spina bifida, meningomyelocele, sacral
agenesis, cerebral palsy, etc.
Always examine spine, lower limbs with any child
with urinary symptoms, constipation to avoid
missing.
Holt-Oram Syndrome
Holoprosencephaly
Albinism Type I
Pachygyria
Ehlers-Danlos Syndrome
Cutis Laxa
Ataxia Telangiectasia
marfan
Larsen Syndrome
Neurofibromatosis 1 (NF 1)
ectodermal dysplasia
Crouzon syndrome
goldenhar
Carpenter Syndrome
(Acrocephalopolysyndactyly II)
Cardiofaciocutaneous (CFC)
Syndrome
Apert
Bardet-Biedl Syndrome
Dandy-Walker Malformation
(DWM)
Cockayne syndrome
Hallermann-Streif Syndrome
Williams Syndrome
Beckwith-Wiedemann
Syndrome
Mauriac Syndrome
Sotos Syndrome
Seckel Syndrome
Russell-Silver Syndrome
Velocardiofacial Syndrome
Turner
Characteristic features namely short webbed neck,
naevi,increased carrying angle, short fourth metacarpal
and nail hypoplasia may not be presents in many cases.
Commonly presents as delayed puberty or isolated short
stature in a prepubertal girl. Some may present with
edema of hands and feet during neonatal period .
Chromosomal abnormality can be 45,X in all cells or in
mosaic form or deletion or isochromosome of X.
Intelligence is usually normal
though learning diculties in some focal areas may be
present.
Rubinstein-Taybi Syndrome
Prader-Willi syndrome
Klinefelter Syndrome
Down
Characteristic flat face, upslant of eyes,
hypertelorism with protruding tongue is diagnostic.
Inspite of easy clinical diagnosis karyotype of each
child with Down syndrome is essential as the risk
of recurrence in sibs depends on the chromosomal
abnormality of the proband. Clinical diagnosis may
be dicult in preterm neonates in whom increased
gap between first and second toes and single
palmar crease may support the clinical impression.
Proteus Syndrome
HemihyperplasiaIsolated
Microcephalic Osteodysplastic
Primordial Dwarfism II (MOPD II)