Syndromes Flashcards
(15 cards)
Klinefelter
XXY
- mild mental delay
- eunuchoid habitus; sparse facial hair
- gynacomastia
- long arms legs, tall slim
- hypogonadism - phallus & testes sml for age; azospermia
Klinefelter complications
- eunuchoid
- gynacomastia & breast ca almost same female incidence (also some haematological ca)
- mental retardation mild
- often delayed diagnosis as subtle clinical findings esp up until puberty
- consider testosterone replacement
Klinefelter consider when….
often delayed diagnosis as subtle clinical findings esp up until puberty
- any boys regardless of age if mild mental retardation, psychosocial adjustment problems
- esp verbal IQ reading, spelling, maths
XYY males
- explosive (often antisocial) begaviour
- weakness w poor fine motor control
- accelerated growth in mid-childhood
- large teeth
- prominent glabella
- asymmetric & long ears
- severe acne at puberty
- incr length v breadth hands/feet/cranium
Turner syndrome
45, XO
45,XO
Turner synd
Turner syndrome
- girls w short stature
- amenorrhea
- excessive nuchal skin
- low posterior hairline
- broad chests w widely spaced nipples
- cubitus valgus (incr carrying angle arms)
- CHD: CoAo, bicuspid AoValve
- HTN: horseshoe kidney ?causing renal abnormalities
- short 4thMCarpal/MTarsal
- hypothyroid
- impaired hearing
- mental development usu normal
Cubitus valgus
incr carrying angle arms
Eg turner syn 45,XO
Fragile X Synd incidence
- most common form inherited mental retardation
- primarily boys
Fragile X synd fx
- primarily boys
- mental retardation
- macrocephaly
- long face
- high arched palate
- large ears
- macroorchidism after puberty
Macroorchidism
Macroorchidism is a disorder found in males where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome, which is also the second most common genetic cause of mental disabilities.
Eunuchoid habitus
Eunuchoid habitus. Definition: A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more).
Eg. Klinefelter
Klinefelter synd definition
A specific syndrome assoc w behavioural (immaturity, insecurity); developmental delay (speech, language, lower IQ); and physical findings (gynacomastia, hypogonadism, long limbs) caused by an extra chromosome in boys/men.
Mental retardation (MR) definition
A clinically & socially important impairment of measured intelligence & adaptive behaviour that is diagnosed before 18yo.
Causes of MRetardation
- pre conceptual/early embryonic disruptions (teratogens, chromosomal abnormalities, placental dysfunction, congenital CNS malformations)
- foetal brain insults (infections, toxins, placental problems)
- perinatal difficulties (prematurity, metabolic disorders, infections)
- postnatal brain injuries (infections, trauma, metabolic disorders, toxins, poor nutrition)
- misc post natal family difficulties (poverty, poor care giver interaction, parental mental illness)
- Unknown
