Paediatric Flashcards
Meckel gruber sx
Encephalocoele
Polydactyly
Polycystic kidney ds
Cleft palate
Wolman’s ds
Deficiency of lysosomal acid lipase Failure to thrive Vomiting’ Abdominal distension Steatorrhea Hepatosplenomegaly Extensive b/l calcification of adrenal gland Hyperlipidemia
Aicardi sx
Agenesis of corpus callosum
Chorioretinal lacunae
Infantile spasms
Pendred syndrome
Autosomal recessive
Mutation gene SLC26A4 chr 7
Sensorineural deafness (mc syndromic deafness) Goitre with hypothyroidism
Kocher-Debre-Semelaigne syndrome
Type of congenital hypothyroidism with pseudohypertrophy of muscles leading to athletic appearance in older children.
Boys more prone
McCune Albright syndrome
GNAS1 mutation
Mc in girls
Polyostotic fibrous dysplasia
Cafe au lait macules
Endocrine abnormalities- hyperthyroidism, acromegaly, adrenal adenomas, peripheral precocious puberty d/t hyperfunctioning ovaries
Lawrence moon bardet biedil
Obesity Polydactyly Retinitis pigmentosa Hypogonadotrophic hypogonadism Hypertension Mental retardation
Lowe
Oculocerebrorenal sx
Hypotonia
Renal ds
Denys drash
A/w Wilm’s tumor
Early onset renal failure with renal mesangial sclerosis
Male pseudohermaphroditism
Sinding larsen johansson syndrome
Periostitis at inf pole of patella
Van der Hoeve syndrome
Osteogenesis imperfecta (fragile bones, multiple fractures)
Blue sclera
Otosclerosis (deafness)
Klippel Feil syndrome
Low posterior hairline
Short webbed neck
Decreased range of motion in head and neck area
Soto syndrome
Cerebral gigantism
Intellectual disability
Premature tooth eruption
Developmental delay
Beckwith weidmann syndrome
Hemihypertrophy
Omphalocoele/ umbilical hernia
Macroglossia
Increased risk of wilm’s tumor
Lennox Gastaut syndrome
.Developmental delay
.Multiple seizure types
.Eeg- 1-2hz spike and slow waves, polyspike burst in sleep and slow background in wakefulness
Starts between 2-10 yrs of age
