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Answers: 2004 series -  March 2, 2004 Lecture 44 of 50  NEXT»

  girl with syndrome - seated   girl with syndrome - face   girl with syndrome - standing

This 12-year-old girl presents as shown above.  She has minimal lens opacities and visual acuity of OD 20/40 and OS 20/30 without correction. 

1.  The most likely diagnosis in this case is:

d -- 
This child has the unmistakable features of Hallermann-Streiff syndrome.  Hypertelorism is characterized by an increased inter-orbital distance.  Goldenhar syndrome is characterized by hypodevelopment of the jaw (hemifacial microsomia), pretragle skin tags, epibulbar dermoids and lid colobomas.  Treacher-Collins syndrome (mandibulofacial dysostosis) is characterized by anti-mongoloid palpebral fissure, deformity of external ear, hypoplasia of the malar bone, and coloboma of the lower lid.
 
2. 

This syndrome occurs: 

d --  This syndrome occurs sporadically. 

3.  In considering school placement, the child's mental ability should be considered as: 

a -- In spite of the remarkable appearance of children with Hallermann-Streiff syndrome, they have normal intelligence and can be expected to live a normal life span.
 


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