CONGENITAL SYNDROMES Flashcards
WHAT IS THE GENETIC ABNORMALITY WHICH CAUSES DOWNS SYNDROME
TRISOMY 21
WHAT ARE THE CYTOGENETICS OF DOWNS SYNDROME
NON DYSJUNCTION
TRANSLOCATION
MOSIASISM
WHAT ARE RISK FACTORS WHICH COULD PREDISOPOSE YOU TO HAVING A CHILD WITH DOWNS
ADVANCED MATERNAL AGE
CARRIERS OF GENETIC TRANSLOCATION
ALREADY HAVING ONE CHILD WITH DOWNS
WHAT ARE COMPLICATIONS OF DOWNS SYNDROME
ATRIOVENTRICULAR SEPTAL DEFECT (CHD)
RENAL ABNORMALITIES
EARLY ONSET ALZIEMERS
HYPOTONIA
HIRSPRUNGS AND DUODENAL ATRESIA
LEARNING AND BEHAVIOURAL DIFFICULTIES
HOW DO YOU SCREEN FOR DOWNS SYNDROME
1ST TRIMESTER COMBINED TEST
- HCG, PREGNANCY ASSOCIACTED PLASMA PROTEIN A
- NUCHAL TRANSULUCENY SCAN
INTEGRATED SCREENING TEST
- 1ST TRIMESTER COMBINED TEST
- +/- QUADRUPLE SCREEN:
- MEASURING ALPHA FETOPROTEIN, ESTRIOL, HCG, INHIBIN A
HOW DO YOU DIAGNOSE DOWNS SYNDROME
CHORNONIC VILLUS SAMPLING
- WEEKS 10-13
AMNIOSCENTESIS
- WEEKS 15
WHAT IS KLEINFELTERS SYNDROME
XXY
WHAT IS THE PRESENTATION OF KLEINFELTERS SYNDROME
INFERTILITY
HYPOGONADISM
GYNECOMASTIA
TALL
BEHAVIOURAL AND LEARNING DISORDERS
HOW DO YOU DIAGNOSE KLEINFELTERS SYNDROME
USUALLY WHEN INVESTIGATING DELAYED PUBERTY
- BLOODS: DECREASED TESTOSTERONE
- KARYOTYPE TESTING
HOW DO YOU MANAGE KLIENFELTERS SYNDROME
TESTOSTERONE
IVF
PSYCHOLOGICAL THERAPY AND EDUCATIONAL SUPPORT
IF GYNECOMASTIA DOESNT RESOLVE WITH TESTOSTERONE THEN BREAST REMOVAL
WHAT IS TURNERS SYNDROME
45 X
WHAT IS THE PRESENTATION OF TURNERS SYNDROME
SHORT STATURE
DELAYED PUBERTY
NORMAL INTELECT
NEUNATAL LYMPHADENOPATHY
WHAT COMPLICATIONS CAN ARISE DUE TO TURNERS SYNDROME?
INFERTILITY
COARCTATION OF THE AORTA (CHD)
RENAL ABNORMALITIES
OTITIS MEDIA
HYPOTHYROIDISM
WHAT IS THE MANAGEMENT OF TURNERS SYNDROME?
GROWTH HORMONE REPLACEMENT
- SOMATOTROPHIN
HRT
- OESTROGEN
IVF
HOW IS TURNERS SYNDROME IDENTIFIES
ABNORMALITIES NOTED ON FETAL US
- CHD, RENAL, LYMPHADENOPATHY
SLOW GROWTH RATE AS CHILD
ABNORMAL APPEARENCE
- WEBBED NECK, BROAD CHEST, WIDE SPACED NIPPLES
DELAYED PUBERTY
KARYOTYPE TESTING
WHAT IS ANGELMANNS SYNDROME
LACK OF CHROMOSOME 15 VIA MATERNAL SIDE AFFECTING THE NERVOUS SYSTEM
AKA HAPPY PUPPET SYNDROME
WHAT IS THE CYTOGENETICS OF ANGELMANNS
DE NOVO DELEION
UNIPARENTAL DISOMY
WHAT IS THE PRESENTATION OF ANGELMANNS
SEVERE COGNATIVE IPAIREMENT
ATAXIA
EPILEPSY
XS LAUGHTER AND HAPPINESS
INCREASED APETITE
ABNORMAL APPEARENCY
- MICROCEPHALY, WIDE MOUTH, TAPERED FINGERS AND BROAD THUMBS
HOW DO YOU MANAGE ANGELMANNS
SaLT
PHYSIO
ANTICONVULSTANTS
VENTILATION IF TEHY HAVE SLEEP APNEOA
HOW DO YOU DIAGNOSE ANGELMANNS
DIAGNOSED THROUGH PRESENTATION IN INFANCY AND CHILDHOOD
KARYOTYPE TESTING
WHAT IS DUCHENNES MUSCULAR DYSTROPHY
X LINKED RECESSIVE DISORDER WITH PROGRESSIVE MUSCLE DEGENERATION
DESCRIBE THE PATHOPHYSIOLOGY OF DUCHENNES MUSCULAR DYSTROPHY
DECREASED DYSTROPHIN
- DYSTROPHIN HELPS CONNECT MUSCLE FIBRES TOGETHER
MYOFIBRIN NECROSIS
- INCREASED CREATININE KINASE
WHAT IS THE PRESENTATION OF DUCHENNE MUSCULAR DYSTROPHY?
WADDLING GAIT
+/- LANGUAGE DELAY
PRESENTING <5Y
CALF PSEUDOHYPERTROPHY
WHAT IS THE MANAGEMENT OF DUCHENNES MUSCULAR DYSTROPHY
PHYSIO
NIGHT SPLINTS TO STRETCH CONTRACTURES ESP. ANKLES
TRUNCHEAL BRACE
METAL BARINSERTED INTO SPINE
OVERNIGHT CPAP
PREDNISOLONE 10DAYS A MONTH
WHAT IS WILLIAMS SYNDROME
A SPONTANEOUS MICRODELETION CAUSING BEHABIOURAL AND EDUCATIONAL DIFFICULTIES
WHAT ARE COMPLICATIONS OF WILLIAMS SYNDROME
SUPRAVENTRICULAR AORTIC STENOSIS (CHD)
MODERATE LEARNING AND BEHAVIOURAL DIFFICULTIES
WHAT IS FRAGILE X
AN X LINKED RECESSIVE DISORDER CAUSING LEARNING DIFFICULTIES
WHAT ARE PRESTATIONS OF FRAGILE X
AUTISM
HYPERACTIVITY
SCOLIOSIS
JOINT LAXICITY
MITRAL VALVE PROLAPSE (CHD)
POST PUBERTAL MACROORCHIDISM
WHAT ARE PHYSICAL FEATURES OF FRAGILE X (APPEARENCY)
MACROCEPHALYLONG FACE
LARGE EARS
PRIMINENT MANDIBLEBREAD FOREHEAD
WHAT IS NOONE SYNDROME
A GENETIC DISORDER OF AUTOSOMAL DOMINANT INHERITANCE
CAUSING PSYSIOLOGICAL AND BEHAVIOURAL ISSUES
WHAT IS THE PHYSIOLOGICAL PRESENTATION OF NOONE SYNDROME
TRIDENT POST. HAIRLINE
SHORT WEBBED NECK
PECTUS EXCAVATUM
WHAT ARE COMPLICATIONS ASSOCUATED WITH NOONE SYNDROME
PULMONARY VALVE SRENOSIS (CHD)
FAILURE TO THRIVE
MILD LEARNING DIFFICULTIES
WHEN IS NOONE DETECTED
1ST TRIMESTER SCREEN
WHAT IS THE MANAGEMENT OF NOONE
BEHAVIOURAL AND EDUCATIONAL SUPPORT
SaLT
PHYSIO + OT - GROSS AND FINE MOTOR DELAYES
