Q1:
A mother who is new to your area brings her 6-year-old daughter to your office for evaluation
due to poor school performance and behavioral concerns. The child is in the first grade and is
struggling with math and reading. The mother says that the girl is “hyper” and does not play well
with other children. Despite almost being hit by a car recently, she repeatedly runs into the road
in front of their house. On physical examination, you note that the child’s height, weight, and
head circumference are less than the 10th percentile. She has short palpebral fissures, a
smooth philtrum, and a thin upper lip .
Of the following, the MOST likely diagnosis is
A. Down syndrome
B. fetal alcohol syndrome
C. hypochondroplasia
D. Russell-Silver syndrome
E. 47,XXX
Answer
B
The behavioral and physical features described for the girl in the vignette are most consistent
with fetal alcohol syndrome (FAS). FAS is at one end of a spectrum of abnormalities associated
with prenatal exposure to alcohol termed “fetal alcohol spectrum disorders” (FASD)
Children who have FAS typically have height, weight, and occipitofrontal circumference
(OFC) below the 10th percentile from birth and continue to grow slowly. Characteristic facial
features include midface hypoplasia (including flat nasal bridge and epicanthal folds), short
palpebral fissures, relatively smooth philtrum, and a narrow upper lip that has a poorly defined
“cupid’s bow” (Item C40A). Psychomotor development is delayed, and there is a typical pattern
of both cognitive and behavioral abnormalities, including poor impulse control and poor judgment.
An FASD diagnosis should be ascertained as early as possible to ensure the best possible
outcome for affected children. Management issues include parent education, careful physical
examination (with attention to vision, hearing, the heart, the kidneys, and the musculoskeletal
system), appropriate referrals, neuropsychological testing with proper school placement, and
anticipatory guidance
------------
Q 2
A neighbor approaches you regarding her concerns about her newborn grandson. Her 23-year old
daughter, the mother of the baby, had an uneventful pregnancy, labor, and delivery, and “all
of her prenatal tests were normal.” The baby has been in the normal newborn nursery for 3
days, and he is feeding poorly. He “just can’t seem to get the hang of sucking.” She thinks he is
probably just “lazy,” and she describes him as feeling like a “rag doll” when she holds him. She
has noticed that he has “a lot of skin” at the back of his neck, and his fifth fingers are “crooked”
. She thinks his penis is small. You suggest that she alert the baby’s physician to
her concerns.
Of the following, the MOST likely diagnosis is
A. 22q11 deletion
B. achondroplasia
C. cri-du-chat syndrome
D. Down syndrome
E. Prader-Willi syndrome
Copyright
Answer
D
The hypotonia, poor feeding, excess nuchal skin, incurving (clinodactyly) of the fifth fingers, and
questionably small phallus described for the infant in the vignette are consistent with Down
syndrome (DS). Hypotonia and excess nuchal skin are present in 80% of newborns who have
DS, fifth finger clinodactyly is present in approximately 50% (Item C136A), and a relatively small
penis with reduced testicular volume occurs frequently.
Answer
B
The behavioral and physical features described for the girl in the vignette are most consistent
with fetal alcohol syndrome (FAS). FAS is at one end of a spectrum of abnormalities associated
with prenatal exposure to alcohol termed “fetal alcohol spectrum disorders” (FASD)
Children who have FAS typically have height, weight, and occipitofrontal circumference
(OFC) below the 10th percentile from birth and continue to grow slowly. Characteristic facial
features include midface hypoplasia (including flat nasal bridge and epicanthal folds), short
palpebral fissures, relatively smooth philtrum, and a narrow upper lip that has a poorly defined
“cupid’s bow” (Item C40A). Psychomotor development is delayed, and there is a typical pattern
of both cognitive and behavioral abnormalities, including poor impulse control and poor judgment.
An FASD diagnosis should be ascertained as early as possible to ensure the best possible
outcome for affected children. Management issues include parent education, careful physical
examination (with attention to vision, hearing, the heart, the kidneys, and the musculoskeletal
system), appropriate referrals, neuropsychological testing with proper school placement, and
anticipatory guidance
------------
Q 2
A neighbor approaches you regarding her concerns about her newborn grandson. Her 23-year old
daughter, the mother of the baby, had an uneventful pregnancy, labor, and delivery, and “all
of her prenatal tests were normal.” The baby has been in the normal newborn nursery for 3
days, and he is feeding poorly. He “just can’t seem to get the hang of sucking.” She thinks he is
probably just “lazy,” and she describes him as feeling like a “rag doll” when she holds him. She
has noticed that he has “a lot of skin” at the back of his neck, and his fifth fingers are “crooked”
. She thinks his penis is small. You suggest that she alert the baby’s physician to
her concerns.
Of the following, the MOST likely diagnosis is
A. 22q11 deletion
B. achondroplasia
C. cri-du-chat syndrome
D. Down syndrome
E. Prader-Willi syndrome
Copyright
Answer
D
The hypotonia, poor feeding, excess nuchal skin, incurving (clinodactyly) of the fifth fingers, and
questionably small phallus described for the infant in the vignette are consistent with Down
syndrome (DS). Hypotonia and excess nuchal skin are present in 80% of newborns who have
DS, fifth finger clinodactyly is present in approximately 50% (Item C136A), and a relatively small
penis with reduced testicular volume occurs frequently.
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