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Congenital Ab's
| Question | Answer |
|---|---|
| what are the common features of a baby with downs syndrome | flat occiput, upward slanting eyes, hypotonia, single palmar crease, prominent tongue |
| what are some other complications for a baby with downs syndrome | cardiac anomalies (50%), cataracts, hearing loss, hypothyroidism |
| what is the trisomy associated with Edwards syndrome | 18 |
| what are the main clinical features of Edwards syndrome | SGA, micronathia, cleft palate, low set ears, flexion of hands, rocker bottom feet |
| what is the life expectancy of a child born with edwards syndrome | less than 1 year |
| what is the chromosomal abnormality associated with pataus syndrome | trisomy 13 |
| what are the clinical features of pataus | SGA, microcephalic, cleft lip and palate, brain/cardiac/renal and limb abnormalities |
| what is the life expectancy of a child with pataus syndrome | only 5% live beyond 5 years |
| what is the chromosomal abnormality associated with turners syndrome | a deleted X chromosome (XO) |
| a protrusion of bowel with a peritoneal covering is... | exomphalos |
| a protrusion of bowel without a peritoneum is... | gastroschisis |
| an atresia is a.. | blind ending |
| a fistula is when... | two structures are wrongly connected together |
| a stenoses ia a... | narrowing of a structure |
| what is a distinctive clinical feature of pyeloric stenoses | projectile vomitting |
| how is meconium ileus treated | enzymes, antibiotics, physiotherapy or lastly surgery |
| what are the consequences of a diaphragmatic hernia | compromised lung development |
| what is a choanal atresia? | narrowing of passages caused by a web of tissue or bone in the nasopharynx |
| what percentage of cardiac dfects are multifactorial | 90% |
| what percentage of cardiac defects are chromosomal? | 8 |
| what are the signs and symptoms of a cyanotic cardiac lesion | central cyanosis not resolved by 02 therapy, tachypnoea and tachycardia |
| what are the signs and symptoms of an acyanotic cardica lesion | cyanosis on crying/feeding, tachypnoea and tachycardia |
| what is used to maintain the ductus arteriosus | a prostaglanding infusion |
| what is anencephaly | absence of the forebrain and vault of skull |
| what is spina bifida | failure of the fusion of the vertbral column |
| what is hydrocephalus | a blockage in the circulation and absorption of cerebrospinal fluid leading to enlarged ventricles and compression of brain tissue |
| how is hydrocephalus treated | a vetriculoperitoneal shunt |
Created by:
KerriPatton
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