SYNDROMES Flashcards

Question

dysmorphism in noonan syndrome

Answer 1

Males and females. Similar phenotype to Turner. ``` Facies Mild learning difficulties Short webbed neck Pectus excavatum Short stature Congenital heart disease (pulmonary stenosis or ASD) ```

Answer 2

``` Short stature Characteristic facies Transient neonatal hypercalcaemia Supraventricular aortic stenosis Mild to moderate learning difficulties ```

Answer 3

``` Facies Hypotonia Neonatal feeding difficulties FTT in infancy Obesity in later childhood Hypogonadism Developmental delay Learning difficulties ```

Answer 4

``` Trisomy 13 Structural defect of brain Scalp defects Microphthalmia Cleft lip + palate Polydactyly Cardiac and renal malformations ```

Answer 5

Trisomy 18 ``` Low birthweight Prominent occiput Small mouth and chin Short sternum Flexed, overlapping fingers Cardiac and renal malformations ```

Answer 6

X-linked recessive 1/3 are new mutations (deletion of short arm of X chromosome at xp21 site) Codes for dystophin (absence leads to myofibre necrosis) Affects all men and homozygous women

Answer 7

Developmental delay: late walking and speech delay Early: boys have difficulty rising from the floor. 9 years: early loss of ambulation. Slower than peers Mount stairs one-by-one. Run slowly Cardiomyopathy 30% have non-progressive mild learning disability. Average age of diagnosis: 5.5yrs

Answer 8

``` Waddling lordotic gait Calf pseudohypertrophy (replacement by fat and fibrous tissue) Weakness in limb girdles (Gower's sign) ``` Sparing of facial, extraocular and bulbar muscles Language delay Scoliosis

Answer 9

neonatal screening test: serum creatinine phosphokinase markedly elevated Serum creatinine kinase also grossly elevated. Genetic testing often enough for diagnosis.

Answer 10

Death from cardiorespiratory failure or infection by early 20s

Answer 11

Genetic counselling (X-linked recessive) Exercise for power and mobility (delay scoliosis) Passive stretching and night splints to prevent ankle contracture Lengthening of Achilles tendon? For ambulation Attention to good sitting posture (scoliosis) Parent self-groups for information and support Ambulant children: corticosteroids to preserve mobility and prevent scoliosis (prednisolone 10 days each months)

Answer 12

Truncal brace Moulded seat Surgical insertion of metal spine rod

Answer 13

Respiratory aids (CPAP) for nocturnal hypoxia secondary to weak intercostal muscles. Improves quality of life

Answer 14

Group of conditions where tumours grow on the nervous system. 3 types: NF1 - chromosome 17. light brown spots of the skin, freckles in armpit and groin. Small bumps within nerves NF2 - chromosome 22. Hearing loss, cataracts at young age, balance problems, flesh coloured skin flaps and muscle wasting NF3 - Schwannomatosis

Answer 15

Autosomal dominant Highly penetrant 1/3 new mutations Tumours generally non-cancerous

Answer 16

2 or more of these criteria: 6 or more cafe-au-lait spots (>5mm before puberty, >15mm after) >1 neurofibroma (firm overgrowth of a nerve) Axillary freckles Optic glioma which may cause visual impairment 1 Lisch nodule (hamartoma of the iris) Bony lesions from sphenoid dysplasia, which can cause eye protrusion. 1st degree relative with NF

Answer 17

Less common than NF1. 1 major and 2 minor criteria: Major: Unilateral vestibular Schwannoma & 1st degree relative with NF2 Bilateral vestibular Schwannoma ``` Minor: Meningioma Schwannoma Ependymoma Glioma Cataract ```

Answer 18

Dominant 70% are new mutations in TSC1 and TSC2 genes. They code for hamartin and tuberin respectively (tumour suppressor genes) 1 in 9000 live births

Answer 19

Definite: 2 major features with 2 or more minor Possible.. 1 major feature or 2 minor

Answer 20

``` Facial angiofibromas Ungul fibroma Hypomelanotic macules (>3) Shagreen patch Subependymal nodules SubE giant cell astrocytoma Retinal nodular haematoma Cardiac rhabdomyomata ``` (basically affects brain, skin, heart, kidney, eye, lung)

Answer 21

``` Pits in dental enamel Rectal polyps Bone cysts Non-renal haematoma Retinal achromatic patch Cerebral white matter migration tracts Gingival fibromas Confetti skin lesion Multiple renal cysts ```

Answer 22

Cutaneous features more evident after puberty Spectrum of mild-to-severe Neurofibromata in any peripheral nerve including cranial nerves (symptoms if they occur where the nerve passes through a bony foramen) Visual or auditory impairment if 2nd or 8th cranial nerves are compressed Menalencephaly with learning difficulties and epilepsy sometimes

Answer 23

Bilateral acoustic neuromata are predominant feature Deafness and sometimes a cerebellopontine angle syndrome with a facial (7th) nerve paresis and cerebellar ataxia There can be an overlap between the features of NF1 and NF2. Both can be associated with endocronological disorders

Answer 24

Cutaneous: depigmented "ash-leaf" shaped patches which fluoresce uner UV light Shagreen patches (roughened patches of skin usually over lumbar spine) Adenoma sebaceum in a butterfly distribution over the bridge of the nose and cheeks Neurological: Infantile spasms and developmental delay Epilepsy (often focal) Intellectual impairment Severe learning difficulties and often autistic features when older

Answer 25

``` phaeochromocytoma Pulmonary HTN Renal artery stenosis with HTN Skeletal dysplasia Cognitive impairment ```

Answer 26

Subungal fibromata (beneath the nails) Ophthalmological haematomata Cardiac rhabdomyomata (usually resolve in infancy) Polycystic kidneys Gliomatous change can occur in brain lesions Symptomatic epilepsy