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Congenital Ab's

QuestionAnswer
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