Case Files

Question 1

Define brachydactyly

Answer 1

excessive shortening of hand and foot tubular bones resulting in boxlike appearance (DS)

Question 2

Define Clinodactyly

Answer 2

incurving of one of the digits (in DS it is the fifth digit

Question 3

What is the distinctive facial experience of children with trisomy 21?

Answer 3

upslanting palpebral fissures, Brushfield spots (white or gray spots in the periphery of the iris), flat facial profile, small and rounded ears, excess nuchal skin, pelvic dysplasia, joint hyperflexibility, fifth finger clinodactyly, a single transverse palmer crease, hypotonia, poor Moro reflex, epicanthal folds

Question 4

What 2 potentially life threatening life-threatening conditions must be considered in newborns with down syndrome?

Answer 4

cardiac abnormalities (50%)– most common is an endocardial cushion defect, VSD or tetralogy AND intestinal (duodenal) atresia (12%)

Question 5

What is strabismus?

Answer 5

crossed eye

Question 6

What are some long term risk of down syndrome?

Answer 6

obesity, increased leukemia risk, acquired hypothyroidism, cervical spine instability, premature aging and increased risk for Alzheimer disease

Question 7

What are common features of trisomy 18 (Edwards)?

Answer 7

weak cry, single umbilical artery, micrognathia, clenched hands with overlapping fingers, rocker-bottom feet, short sternum

Question 8

What are common features of trisomy 13 (Patau)?

Answer 8

microcephaly, polydactyly, sloping forehead, deafness, scalp cutis aplasia, microphthalmia, cardiac defect, single umbilical artery,

Question 9

What are some signs of PCP abuse?

Answer 9

euphoria, nystagmus, ataxia, emotional lability, hallucinations, hypersalivation and abusive language

Question 10

What are some signs of Methamphetamine (ecstasy) abuse?

Answer 10

euphoria, increased psychic and emotional energy, nausea, teeth grinding, tachycardia, blurred vision, panic attacks, psychosis