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Monday, September 9, 2019

ANSWERS OF PEDIATRIC TOACS PUBLISHED ON 9/9/2019

ANSWERS OF PEDIATRIC TOACS PUBLISHED ON 9/9/2019


STATION# 01

1. Acanthocytosis
2. Abetalipoproteinemia
3. Eye (Retinitis pigmentosa)


STATION# 02

1. Three generation pedigree chart showing
All  daughters of the affected males have the disease
Sons of the affected males are normal
Affected females affect ½ of the males and ½ of the daughters
2. X-linked dominant inheritance
3. Hypophosphatemic rickets (Vitamin D resistant )
   Incontinentia pigmenti
   Oro-facial digital syndrome
   Rett syndrome


STATION# 03

1. The clavicles are absent.
2. Cleidocranial dysostosis. In this condition, the clavicle is either hypoplastic or absent and the ribs are short. The anterior fontanelle often closes late and there may be delayed eruption of teeth. There can be bossing of the forehead.
3. Autosomal dominant. It results from a mutation  in the CBFA1 gene, which
controls a key transcription factor in osteoblast differentiation. 


STATION#04

1. Typical profile reveals prominent occiput, micrognathia, and posteriorly 
rotated malformed auricles.
2. clenched hand showing typical pattern of overlapping fingers.
3. Rocker-bottom feet
4. Trisomy 18

STATION#05

1. Hypothyroidism
2. An endocrine cause of poor growth is likely when linear growth arrests but 
weight gain is either normal or increasing. 


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