2
Physical Examination

1. 2.1. An infant is noted to have physical examination findings consistent with ulnar deficiency. Based on these findings, which of the following syndromes is the infant most likely to have?
   1. CHARGE syndrome
   2. Cornelia de Lange syndrome
   3. Kabuki syndrome
   4. Pallister-Hall syndrome
2. 2.2. A patient undergoing examination has an occipito-frontal head circumference (OFC) at least two standard deviations below the mean (as adjusted for factors such as age and sex). What term describes this finding?
   1. Brachycephaly
   2. Dolicocephaly
   3. Macrocephaly
   4. Microcephaly
3. 2.3. What condition is most likely pictured in the photo below?

   Source: National Human Genome Research Institute: Elements of Morphology: Human Malformation Terminology [1].

   1. Achondroplasia
   2. Pfeiffer syndrome
   3. Stickler syndrome
   4. Van der Woude syndrome
4. 2.4. Which physical examination finding is NOT characteristic of fetal alcohol syndrome?
   1. Microcephaly
   2. Frontal bossing
   3. Short palpebral fissures
   4. Smooth philtrum
5. 2.5. Genetics is consulted because an infant is noted to have "puffy hands and feet." Based on this information, what genetic condition would likely be suspected?
   1. Alport syndrome
   2. Fragile X syndrome
   3. Joubert syndrome
   4. Turner syndrome
6. 2.6. An infant was slightly premature and is being taken care of in the NICU; on rounds, the team notes "puffiness" under the eyes, and that the calcium level has been high on routine blood chemistries. What genetic condition might be suspected based on this?
   1. 22q11.2 deletion syndrome
   2. Homocystinuria
   3. Marfan syndrome
   4. Williams syndrome
7. 2.7. A parent has the dental finding shown in the photo below. What associated condition might occur in this person's child?

   Source: National Human Genome Research Institute: Elements of Morphology: Human Malformation Terminology [1].

   1. Lissencephaly
   2. Holoprosencephaly
   3. Brachycephaly
   4. Trigonocephaly
8. 2.8. A child has craniosynostosis and is also noted to have syndactyly. Which craniosynostosis syndrome is most likely?
   1. Apert syndrome
   2. Beare-Stevenson
   3. Crouzon syndrome
   4. Pfeiffer syndrome
9. 2.9. A patient has Moebius sequence. On exam, one might expect to see signs of bilateral congenital paralysis of which cranial nerves?
   1. 1 and 2
   2. 5 and 10
   3. 6 and 7
   4. All cranial nerves
10. 2.10. An infant with Y-shaped 2-3 toe syndactyly might be suspected to have what condition?
    1. Adams-Oliver syndrome
    2. Silver-Russell syndrome
    3. Smith-Lemli-Opitz syndrome
    4. Trisomy 18
11. 2.11. What is the technical term for the appearance of the eyebrows in the photo shown below?

    Source: Hall et al. [2].

    1. Coloboma
    2. Epicanthus
    3. Ptosis
    4. Synophrys
12. 2.12. On physical exam, a child is noted to have unilateral leukocoria (the pupillary reflex appears white during the eye exam). Which condition might be suspected?
    1. Macular degeneration
    2. Retinitis pigmentosa
    3. Retinoblastoma
    4. Tay-Sachs disease
13. 2.13. What "biochemical" condition can have features on physical examination that resemble some of those seen in people with Marfan syndrome?
    1. Galactosemia
    2. Homocystinuria
    3. Maple syrup urine disease
    4. Phenylketonuria
14. 2.14. Which term refers to lateral curvature of a digit, as in the fifth finger in the image shown below?

    Source: Biesecker et al. [3].

    1. Brachydactyly
    2. Camptodactyly
    3. Clinodactyly
    4. Polydactyly
15. 2.15. What physical examination finding would most likely be observed in a person with Wilson disease?
    1. Coloboma
    2. Lisch nodules
    3. Kayser-Fleischer rings
    4. Xanthelasma
16. 2.16. An infant has multiple congenital contractures affecting more than one different area of the body. Which term describes this finding?
    1. Arthritis
    2. Arthrogryposis
    3. Hypochondrogenesis
    4. Talipes equinovarus
17. 2.17. On examination, an infant has the findings shown in the image below. Which condition might be considered?

    Source: Mussa et al. [4].

    1. Beckwith-Wiedemann syndrome
    2. Down syndrome
    3. Prader-Willi syndrome
    4. Trisomy 18
18. 2.18. What condition includes physical examination findings including aplasia cutis congenita of the scalp and terminal transverse limb defects?
    1. Adams-Oliver syndrome
    2. Baller-Gerold syndrome
    3. Chediak-Higashi syndrome
    4. Donnai-Barrow syndrome
19. 2.19. Which facial feature affecting the nose would likely be observed in a person with Rubinstein-Taybi syndrome?
    1. Absent nose
    2. Anteverted nares
    3. Bifid nasal tip
    4. Low hanging columella
20. 2.20. People with Robin (Pierre-Robin) sequence frequently have which finding noted on physical examination?
    1. Amelia
    2. Cleft palate
    3. Mirror movements
    4. Omphalocele
21. 2.21. Which part of the body is most commonly affected by amniotic bands?
    1. Abdomen
    2. Face
    3. Heart
    4. Limbs
22. 2.22. A "two-vessel cord," which may be identified during the immediate neonatal exam or prenatally, typically refers to what arrangement for the blood vessels in the umbilical cord?
    1. 1 artery, 1 vein
    2. 2 arteries
    3. 2 arteries, 1 vein
    4. 2 veins
23. 2.23. On examination, a girl is noted to have coarse facial features, hepatosplenomegaly, short stature, corneal clouding, developmental delay and limited range of motion of the joints. Which condition is most likely?
    1. Hunter syndrome
    2. Hurler syndrome
    3. Morquio syndrome
    4. Rett syndrome
24. 2.24. An infant has polydactyly and a midline cleft lip. What trisomy would be most likely?
    1. Trisomy 1
    2. Trisomy 13
    3. Trisomy 18
    4. Trisomy 21
25. 2.25. A patient has a family history of sudden death. The patient's hands look like the image shown below. What condition is most likely?

    Source: Biesecker et al. [3].

    1. Fanconi anemia
    2. Holt-Oram syndrome
    3. Marfan syndrome
    4. Short QT syndrome
26. 2.26. On neurological exam, a patient is noted to have involuntary movements affecting the hands on one side of the body, which copy intentional movements on the other side. What is the term for this?
    1. Dystonia
    2. Mirror movements
    3. Seizures
    4. Tics
27. 2.27. A toddler with a history of developmental delay and seizures is noted to have hypopigmented streaks following the lines of Blaschko. What condition might be considered as likely?
    1. Hypomelanosis of Ito
    2. Klippel-Trenaunay syndrome
    3. Neurofibromatosis type 2
    4. McCune-Albright syndrome
28. 2.28. What eye finding might be noted in a person with Tay-Sachs disease?
    1. Anophthalmia
    2. Cherry-red spot
    3. Coloboma
    4. Lisch nodules
29. 2.29. An infant boy is noted to have a congenital anomaly in which there is ventral and proximal displacement of the urethral meatus from the tip of the glans penis. Which term best describes this finding?
    1. Epispadias
    2. Hydrocele
    3. Hypospadias
    4. Müllerian aplasia
30. 2.30. Which feature on physical examination may be expected to be observed in individuals with Russell-Silver syndrome?
    1. Coarse features
    2. Macrosomia
    3. Tall stature
    4. Triangular facies
31. 2.31. Which "scoring system" or scale is used on physical examination to assess joint hypermobility, as in the assessment of a person with possible Ehlers-Danlos syndrome?
    1. Amsterdam
    2. Beighton
    3. Ghent
    4. Vanderbilt
32. 2.32. A neonate has an abdominal wall defect lateral to the umbilicus; there is no protective membrane around the herniated abdominal contents. What type of congenital anomaly is this?
    1. Gastroschisis
    2. Hydrocele
    3. Omphalocele
    4. Situs inversus
33. 2.33. On examination, a 10-year-old child and her father...