PHRCA Exam (274 Questions) And Answers 100% Verified
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PHRCA Exam (274 Questions) And Answers 100%
Verified
Which of the following is typically recommended for regular
management of children with achondroplasia?
A.) Referral to orthopedic surgery for limb lengthening procedure
B.) Referral for sleep study
C.) Referral to neurosurgery for deco...
PHRCA Exam (274 Questions) And Answers 100%
Verified
Which of the following is typically recommended for regular
management of children with achondroplasia?
A.) Referral to orthopedic surgery for limb lengthening procedure
B.) Referral for sleep study
C.) Referral to neurosurgery for decompression of the foramen
magnum
D.) Referral for brainstem auditory evoked responses (BAER)
E.) Referral to endocrine for growth hormone therapy - ANS-B.)
Referral for sleep study
Which of the following statements is true regarding prenatal
diagnosis for skeletal dysplasias?
A.) Fetuses with achondroplasia do not have any abnormalities
on fetal radiographs
B.) FGFR3 analysis via amniocentesis is clinically available for
diagnosis
C.) FGFR3 analysis via cell free fetal DNA is recommended for
diagnosis
D.) Fetal radiographs at 22 weeks gestation allow for definitive
diagnosis
E.) Fetal radiographs at 32 weeks gestation allow for definitive
diagnosis - ANS-B.) FGFR3 analysis via amniocentesis is
clinically available for diagnosis
Both members of a young couple carry a definite diagnosis of
achondroplasia. They are seen for pre-conception counseling.
Which of the following is a true statement?
A.) They are at 50% risk to have a child with typical stature
B.) They are at 50% risk to have a child with homozygous
achondroplasia
, C.) They are at 50% risk to have a child with heterozygous
achondroplasia
D.) They are at 50% risk to have a child with thanataphoric
dysplasia
E.) They are at 50% risk to have a child with hypochondroplasia -
ANS-C.) They are at 50% risk to have a child with heterozygous
achondroplasia
,You decide to offer molecular testing to your patient with the
presumptive diagnosis of Crouzon syndrome. Which type of
testing would you offer first?
A.) Whole exome sequencing
B.) Deletion/duplication of FGFR2
C.) Sequencing of exons 8 and 10 of FGFR2
D.) Targeted mutation analysis for a specific mutation in FGFR2
E.) Sequencing of the intron/exon boundaries of FGFR2 - ANS-
C.) Sequencing of exons 8 and 10 of FGFR2
1st step for both Crouzon and Pfeiffer
Your patient has craniosynostosis and "mitten hand" syndactyly
and you suspect a specific diagnosis. Which of the following
genes would you test to confirm your suspicion?
A.) FGFR1
B.) FGFR2
C.) FGFR3
D.) TWIST
E.) TGFBR1 - ANS-B.) FGFR2
Which of the following craniosynostosis conditions is not primarily
associated with a mutation in an FGFR gene?
A.) Muenke syndrome
B.) Crouzon syndrome
C.) Saethre-Chotzen syndrome
D.) Pfeiffer syndrome
E.) Apert syndrome - ANS-C.) Saethre-Chotzen syndrome is
caused by mutations in TWIST
You are taking a history of a patient with coronal
craniosynostosis. Which of the following pieces of information
might cause you to suspect that the craniosynostosis is
secondary (not primary)?
, A.) Involvement of other sutures in addition to the coronal suture
B.) Unilateral craniosynostosis
C.) Obstetrical history of uterine fibroids in mom
D.) Hearing loss in the patient
E.) Family history of sibling with Crouzon syndrome - ANS-C.)
Obstetrical history of uterine fibroids in mom
An infant presents with posterior plagiocephaly of unknown
etiology. Which of the following is most likely to be recommended
to normalize the head shape?
A.) Surgical correction
B.) Bracing
C.) Putting the child on his back to sleep
D.) Neurosurgery evaluation
E.) Helmet therapy - ANS-E.) Helmet therapy
A 1-month-old patient presents in clinic with unilateral coronal
craniosynostosis. There are no obvious digital anomalies although
the patient has not had radiographic studies. What condition is on
the top of your differential diagnosis?
A.) Apert syndrome
B.) Muenke syndrome
C.) Crouzon syndrome
D.) Loeys-Dietz syndrome
E.) Carpenter syndrome - ANS-B.) Muenke syndrome
A 4-year-old child is referred to the metabolic clinic by his
pediatrician for a suspected fatty acid oxidation defect. Your
review his newborn screen results of a recent acylcarnitine profile
and other laboratory studies that he has had. If the child did have
MCAD (multiple acyl-CoA dehydrogenase deficiency) in addition
to an abnormal acylcarnitine profile which of the following would
you expect to see during an acute metabolic crisis?
A.) Increased plasma free carnitine
B.) Elevated liver enzymes
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