Gen Paeds Flashcards
Causes of macrocephaly
BIG BONES
- achondroplasia
- rickets
- OI
- Haemolytic anaemia
BIG BRAIN
- Cerebral tumour/abscess
- SDH
- Sotos
- Neurocutaneous eg NF, TS, SWS
- Metabolic: Tay Sachs, MPS
BIG SPACES (hydrocephalus)
- Aqueductal stenosis
- Posterior fossa tumour, Arnold Chiari malformation
- Reduced CSF absorption due to SAH, meningitis, leukaemia
- Increased CSF production eg choroid plexus papilloma
Differentials for microcephaly
- Malformations: holoprosencephaly, lishencephaly
- Chromosomal: trisomies
- Hereditary: AR/AD microcephaly, SWS, NF1, TS
- Syndrome eg Cornelia de Lange, Aicardi, Angelman, Fanconi, Smith Lemli Opitaz, Retts
- Infection eg TORCH, encephalitis, meningitis
- Trauma: asphyxia, head injury
- Endocrine: hypothyroidism, hypopit
- Maternal: DM, PKU, Fetal alcohol syndrome
- Malnutrition
Milestones at 6 weeks
GM: raise head to 45degrees, stabilise head when raised to sitting
FM: fixes and follows
Speech: startles to loud noises
Social: social smile
Milestones at 3months
GM: bears weight on legs with support
FM: hands to midline, reaches out for toys
Speech: coos
Social: smiles spontaneously
Milestones at 6months
GM: sites without support (rounded back), rolls prone to supine
FM: palmar grasp, transfer hand-hand
Speech: turns to sound, monosyllabic babble (eg bababa)
Social: puts object in mouth, shakes rattle, reaches for breast/bottle
9month milestones
GM: sits unsupported (straight back)
FM: inferior pincer grip, object permanence
Speech: responds to own name, starts using dada and mama
Social: stranger fear, holds/bites food
Static causes of global developmental delay
- Cerebral malformations
- Chromosomal disorders
- Intrauterine infection
- Antenatal toxins (alcohol, valproate, phenytoin)
Degenerative causes of Global Developmental Delay
Metabolic things eg
- Tay Sachs, GM1, GM2 gangliosidoses
- Niemann Pick
- Metachromatic leukodystrophy
- Adrenoleukodystrophy (X-L)
- Krabbe
Causes of isolated speech delay
Hearing impairment
Infantile autism
Causes of isolated motor delay?
Hypotonia
Neuromuscular disorders
Ataxia
Hemiplegia, paraplegia
Causes of hemihypertrophy
- Beckwith Wiedemann Syndrome
- Russel Silver Syndrome
- McCune Albright
- Proteus syndrome
Causes of clinodactyly
- T21
- Russel Silver Syndrome
- Rubenstein-Taybi
- Cornelia de Lange
- Prader Willi syndrome
Causes of a short 4th metacarpal
- Pseudohypoparathyroidism
- Turners
- Fetal Alcohol Syndrome
Causes of a simian crease
- T21
- Cornelia de Lange
- Pallister Hall syndrome
Causes of micropthalmos
CHARGE
Congenital rubella syndrome
Causes of hypertelorism
- Noonan syndrome
- Williams syndrome
- Sotos syndrome
- Waardenburg syndrome
Causes of epicanthic folds
- Noonan syndrome
- Turner syndrome
- Williams syndrome
- T21
Trisomy 21 dysmorphology
Upslanting palpebral fissures
Epicanthic folds
Flat nasal bridge
Low set small ears
Protruding tongue
Brachycephaly
Short neck with excessive skin
Hypotonia
Wide spaced nipples
Simian crease
Sandal gap
Differential diagnosis for coarse facial features?
IEMs - MPS, gangliosidosis
Acromegaly
Beckwith Wiedemann syndrome
Features of fanconi anaemia
- BM failure
- skin: hypo/hyperpigmentation, cafe au lait
- short stature
- radius/ thumb abnormalities
- renal anomalies incl horseshoe, absent kidneys
- microcephaly, triangular face, short webbed neck
Features of Stickler syndrome?
Myopia, retinal detachment
Cleft palate (either alone or as part of PRS with Micrognathia and glossoptosis)
SNHL
Flat midface with depressed nasal bridge, anteverted nares
Joint hypermobility
Arthritis
Features of Russel Silver Syndrome?
Macrocephaly with frontal bossing and triangular jaw
Small height (and IUGR)
Clinodactyly
Cafe au lait macules, sparse subcutaneous tissue
Asymmetry/ hemihypertrophy
Developmental delay
Downturned corners of mouth and blue sclera (sometimes)
Features of Bardet Biedl syndrome
Short and obese
Eye - retinitis pigmentosa: night blindness, tunnel vision, retinal pigment changes,
Polydactyly and/or brachydactyly
Hypogonadism
Renal dysfunction (incl DI)
ID
