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Is Larsen Syndrome A Congenital Disorder?

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Posted on Mon, 1 Aug 2016
Question: 2 Years Old Female diagnosed to have Larsen Syndrome, Congenital Vertical Talus, Arthrogryposis Multiplex Congenita, Developmental Dysplasia of the Hip. Diagnosed to have AMC 3rd Post natal day, baby was splinted for both knees from 20th day, hip dislocation was also diagnosed. Kindly opine whether this deformity is visible to necked eye and can it be termed as Congenital external defect.
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Answered by Dr. Diptanshu Das (38 minutes later)
Brief Answer:
These are essentially congenital i.e. present since birth.

Detailed Answer:
Thanks for asking on HealthcareMagic.

I am sorry to hear about the mentioned child. I do not exactly understand what you mean by 'visible to naked eye'. Seeing and interpreting are two different things. All the features of the mentioned problems are something that a doctor can make out using simple tests and observations, without even using investigations like X rays. However, X ray and other investigations would subsequently be used for confirmation, to back up the clinical findings. What might be apparent to the trained (naked) eyes of the doctor are not likely to be visible (for interpretation) by the naked eyes of a lay person.

About the use of congenital external defect, once again, I do not understand what guides such a 'diagnosis'. These are necessarily congenital (present at birth) problems. Many of the features are evident externally. However, the problem is essentially internal (like everything else) and involves the internal organs eg. the femoral head and the acetabular cavity (none of which are visible externally).

I hope I have been able to clarify. Feel free to write back in case of further queries and I would definitely guide you further.

Regards
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Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
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Dr. Diptanshu Das

Pediatrician

Practicing since :2005

Answered : 3877 Questions

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Is Larsen Syndrome A Congenital Disorder?

Brief Answer: These are essentially congenital i.e. present since birth. Detailed Answer: Thanks for asking on HealthcareMagic. I am sorry to hear about the mentioned child. I do not exactly understand what you mean by 'visible to naked eye'. Seeing and interpreting are two different things. All the features of the mentioned problems are something that a doctor can make out using simple tests and observations, without even using investigations like X rays. However, X ray and other investigations would subsequently be used for confirmation, to back up the clinical findings. What might be apparent to the trained (naked) eyes of the doctor are not likely to be visible (for interpretation) by the naked eyes of a lay person. About the use of congenital external defect, once again, I do not understand what guides such a 'diagnosis'. These are necessarily congenital (present at birth) problems. Many of the features are evident externally. However, the problem is essentially internal (like everything else) and involves the internal organs eg. the femoral head and the acetabular cavity (none of which are visible externally). I hope I have been able to clarify. Feel free to write back in case of further queries and I would definitely guide you further. Regards