Genetic and Metabolic Conditions Flashcards
(42 cards)
A 2-year-old male presents to his PCP for a check-up. Mom states that she is worried about her son because he seems clumsy and is constantly falling when walking. On exam you note that the child seems to have small calf muscles. When you ask him to walk to his mother you note that he crawls up his leg in order to stand. You immediately suspect? What genetic abnormality would you check for? What is the most likely cause of premature death in this child? What would you suspect if this patient had presented in his teens instead?
- Duchenne Muscular Dystrophy
- X-linked recessive dystrophin deficiency
- high output CHF
- Becker Muscular dystrophy from dystrophin protein abnormality
What is the most common cause of inherited intellectual disability?
Fragile X syndrome (X-linked CGG repeat)
What is the typical physical features seen in fragile x syndrome?
Large head, long face, large ears, large hands and feet, large testes
What typical conditions is Down Syndrome associated with?
- AV endocardial cushion defects
- Duodenal atresia
- Hirschsprung disease
- Congenital cataracts
- hypothyroidism
- ALL
- early onset dementia
Both Edwards syndrome and Patau’s syndrome present with microcephaly, MR, cardiac defects, and a short life expectancy. What clinical features allow you differentiate between these two conditions?
Edwards: Rocker bottom feet and overlapping fingers on a clenched fist
Patau: Midline defects, polydactyly, and absent ribs
A toddler presents to genetics clinic with widely spaced eyes, short stature, and hypotonia. When you begin the exam the child begins to cry and notice a high pitched, “cat like” cry. What genetic abnormality is there?
Cri-Du-Chat Syndrome from a deletion of the short arm of chromosome 5.
A “Happy Puppet” baby with hypotonia, seizures and inappropriate laughter has this abnormality?
Paternal 15th chromosome deletion. Only maternal chromosome remains.
What is the stereotypical body abnormality seen in Prader-Willi Syndrome (only has paternal chromosome 15)?
FTT at birth followed by severe obesity during childhood.
A newborn is noted to have periorbital fullness, a downturned lower lip, a stellate iris, and a systolic heart murmur. What is the likely genetic mutation in this child? What is the heart abnormality?
Williams Syndrome-microdeletion of 7q11.12
Supravalvular aortic stenosis
What are the components of WAGR syndrome (11p13 deletion)?
- Wilms tumor
- Anirdia
- GU malformations
- MR
A patient with Alagille Syndrome (AD mutation in JAG1) will likely present with?
Cholestasis, jaundice, and pruritus due to lack of bile ducts
What cardiac defect is associated with Alagille Syndrome?
Pulmonary valve stenosis
The mnemonic for DiGeorge Syndrome is CATCH 22: What does that include? What is the other large abnormality included in this?
- Cleft Palate
- Absent Thymus
- CHD (tet, VSD, interrupted aortic arch)
- 22q11 deletion
Hypocalcemia from parathyroid gland hypoplasia
A 14-year-old child is presenting for delayed puberty. He is 6’5”, has enlarged breast development, and small testes. What is the syndrome?
47 XXY- Klinefelter
What is an infant with Turner Syndrome likely to present with?
lymphedema
Why should you remove the steak ovaries of children with Turner Syndrome?
To prevent gonadoblastoma
What are the two heart conditions associated with Turner Syndrome?
- Bicuspid aortic valve
- Coarctation of aorta
Treacher-Collins Syndrome has these facial abnormalities?
- Mandibular and maxillary hypoplasia
- Zygomatic arch clefts
- Ear malformations
What is the cause of Achondroplasia?
advanced paternal age
What are the x-ray findings seen in achondroplasia?
- squared off iliac
- thick femoral necks
- ice cream scoop shaped femoral heads
What are the symptoms of osteogenesis imperfecta?
- Blue sclera
- delayed fontanelle closure
- hyperextensible joints
- multiple fractures
What heart abnormalities are associated with Marfan Syndrome?
- aortic root dilation
- MVP
In a patient with lens dislocation, how could differentiate between Marfan Syndrome and Homocystinuria?
Marfan Syndrome: Upward and Outward
Homocystinuria: Downward and Inward
NF1 is associated with these clinical findings?
- Cafe-au-lait spots
- Neurofibroms
- Adolescent axillary freckles
- optic gliomas
- sphenoid wing dysplasia
