Unusual appearance Flashcards
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
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
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.
Patau’s syndrome
Trisomy 13 Midline defects, Cleft lip and palate Cutis aplasia Holoprosencephaly Polydactyly Heart defects - VSD, PDA, ASD
Edwards’a syndrome
Trisomy 18 IUGR Polyhydramnios Rocker-bottom feet Clenched hands Prominent occipital Heart defect - VSD, PDA, ASD Apnoea
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.
Noonan’s syndrome
Phenotypically similar to Turner’s but occur in both sexes
Short stature
Oedema
Pulmonary stenosis
VACTERL association
Vertebral Anal atresia Cardiac Tracheo-oesophageal fistula Renal Limb absent eg radii
CHARGE assoication
Coloboma Heart defects Choanal atresia Retarded growth and development Genital hypoplasia and ear anomalies.
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.
