Discussion in 'Spot Diagnosis' started by neo_star, Jan 9, 2013.
Identify the syndrome
Given the disproportionately small thorax, I would say this is "Jeune syndrome" also known as asphyxiating thoracic dystrophy
Pectum excavatus. ATD.
Ans: Asphyxiating thoracic dysplasia or Jeune syndrome
This condition is a 'ciliopathy'.
Other famous ciliopathies - Kartagener syndrome, Bradet-Biedl syndrome, Alstorm syndrome, Situs inversus and Polycystic kidney disease.
-short, horizontally running rib with widening of the costochondral connections; distally emphasized shortened and thickened long bones; three point configuration of the lower edge of the pelvis. Horizontal acetabula; early ossification of the femur head epiphyses
-cystic tubular dysplasia; renal insufficiency with proteinuria and arterial hypertension; Nephronophtisis, polycystic kidney, usually starting in grade school.
P.S : Also there is Pectus excavatum as pointed by Dr. E M Mike
Other causes of narrow chest are - Ellis-van Creveld syndrome and Thantotropic dysplasia
Credit to Dr. kangourou and Dr. E M Mike for solving the challenge.
Separate names with a comma.