Discussion in 'Spot Diagnosis' started by neo_star, Jan 11, 2013.
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Ellis–van Creveld Syndrome
Ellis–van Creveld syndrome.
Ellis–van Creveld syndrome
Ans: Ellis–van Creveld syndrome aka chondroectodermal dysplasia or mesoectodermal dysplasia
Apart from the features shown in the image, the other gross feature that distinguishes this condition from Achondroplasia is the narrow thorax.
Other conditions with a disproportionately narrow thorax is - Jeune syndrome and Thanotropic dysplasia.
To summarise - It involves numerous anomalies including post-axial polydactyly, congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals), pre-natal tooth eruption, fingernail dysplasia, short-limbed dwarfism, short ribs, cleft palate, and malformation of the wrist bones (fusion of the hamate and capitate bones).
Also, unlike Achondroplasia which is Autosomal Dominant, this condition is autosomal recessive.
Full credit to Dr. Mishary almalkey for clinching the diagnosis first.
Another condition which is charecterised by ' short limb - dwarfism ' is ' Metatropic Dysplasia '
[FONT=&]but they have progressive kyphoscoliosis and joint restriction; they may also have cervical instability.
Separate names with a comma.