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Flashcards in Unusual appearance Deck (10):
1

Major features of Down's Syndrome

Commonest genetic anomaly
Significant learning disability with implications for long term independent living.
Facial features of upward sloping palpebral fissures, fold of skin over epicanthic of the eyes, protruding tongue, flat occipital,
single palmar creases, mild to moderate developmental delay.
Associated medical - GI problems eg duodenal atresia, cardiac anomalies eg atrioventricular canal defects), Otitis media, squint, Hypothroidism, Atlanta-axial vertebral instability and leukaemia

2

Define Syndrome

A syndrome is a consistent pattern of Dysmorphic features occurring together (often genetic in origin but sometimes environmentally induced due to teratogens eg foetal alcohol syndrome or intrauterine infections eg rubella syndrome). The abnormalities in most syndromes are secondary to insults sustained in early embryonic life - They are known as malformation

3

Define sequence

A sequence is where one abnormality leads to another (eg the small mandible in the Pierre Robin sequence causes posterior displacement of the tongue, which prevents the palate forming correctly, leading to cleft palate). The abnormalities in sequences are often due to external restrictions to intrauterine growth and are known as deformations.

4

Patau's syndrome

Trisomy 13
Midline defects,
Cleft lip and palate
Cutis aplasia
Holoprosencephaly
Polydactyly
Heart defects - VSD, PDA, ASD

5

Edwards'a syndrome

Trisomy 18
IUGR
Polyhydramnios
Rocker-bottom feet
Clenched hands
Prominent occipital
Heart defect - VSD, PDA, ASD
Apnoea

6

Turners syndrome

45XO
Short stature
Delayed puberty
Webbing neck
Lymph oedematous hands and feet
Shield shaped chest
Wide spaced nipples
Wide carrying angle
Puberty failure
Tx with GH and Oestrogen therapy to initiate puberty and maintain it.

7

Noonan's syndrome

Phenotypically similar to Turner's but occur in both sexes
Short stature
Oedema
Pulmonary stenosis

8

VACTERL association

Vertebral
Anal atresia
Cardiac
Tracheo-oesophageal fistula
Renal
Limb absent eg radii

9

CHARGE assoication

Coloboma
Heart defects
Choanal atresia
Retarded growth and development
Genital hypoplasia and ear anomalies.

10

Spina bifida

Anencephaly - fetal after birth as cortex doesn't develop
Myelomeningocele - open lesion of spinal cord covered by a thin membrane of meninges. Sever weakness of lower limbs with bladder and anal denervation and associated hydrocephalus.
Meningocele - exposed meninges which can rupture. SPinal cord is intact. Risk of meningitis
Spina bifida occulta - Hidden defect. Failure to vertebral bodies to fuse posteriorly. CLue by tuft of hair, naevus, lipoma or deep sacral pit in midline over lower back.