pectus carinatum/excavatum/ Bernie; AJ

[Guest guest]

Bernie wrote, " ... my older brother has pectus excavatum....Strange to me

that my family has both types. Anyone heard of this or read any studies.

My hunch is there must be a relationship "

Laxity " was wondering how many other EDSers have pectus carinatum "

Pectus excavatum is much more common than pectus carinatum, but both kinds

of pectus deformities can be found in some of those with inherited

connective tissue disorders. Pectus excavatum is mentioned in medical papers

as a feature of EDS, but I haven't found one mentioning pectus carinatum (

it is mentioned in other hereditary connective tissue disorders such as

Marfan, Stickler & Shprintzen-Goldberg syndromes, as well as other genetic

disorders. See:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=omim ).

Our youngest daughter had developed pectus carinatum when about one year

old. Our son developed a mild pectus excavatum deformity during adolescence,

which thankfully hasn't worsened (now 17).

Myself, son & eldest daughter all have HEDS. It's now thought our youngest

daughter probably had this too, because of her pectus carinatum. Before dx I

wondered if we actually had EDS, because of our youngest daughter's pectus

carinatum. However, it all seems to make a bit more sense, when some Drs.

appreciate there can be an overlap between different types of connective

tissue disorders. Our son now has a dx of " Marfanoid EDS. " This isn't found

in the EDS nosology, but describes him perfectly; he looks as though he has

Marfan syndrome...nearly 6', only 126lbs, arm span greater than height, very

long fingers & toes etc. A geneticist that specialises in connective tissue

disorders dx him, & myself. He said we both have HEDS, but couldn't rule out

that our son had a defective fibrillin gene (as found in Marfan syndrome).

Not a medical paper, but this hospital's website mentions pectus carinatum

being found in EDS:

http://www.cincinnatichildrens.org/health/info/chest/diagnose/pectus-carinat

um.htm

Interesting....first mention of this, & EDS I've seen,

Gail

North Yorkshire, U.K.

HEDS

Eldest daughter: HEDS

Son: Marfanoid HEDS, Chiari 1 Malformation & syringomyelia

[Guest guest]

Sorry,

The links I sent don't appear to work. The first one will take you to the

OMIM site. Then type in " pectus carinatum " in the search " for " box.

The last link on pectus carinatum & EDS should be:

http://www.cincinnatichildrens.org/health/info/chest/diagnose/pectus-carinat

um.htm

Sorry the whole of this hyperlink didn't show,

Gail

[Guest guest]

Greetings Gail:

Thank you for your reply. Am very appreciative of the link and

information. Perhaps we are not that unusual having both. Have you had

contact with others who have had both type of pectus abnormality in the

family. I suspect my dtrs. pectus carinatum results from the mild

scoliosis. My brother does not have scoliosis and has lived a normal

life though the learning difficulty and social skill deficits have

caused lots of heartache for him as far as friends and relationships.

His children are healthy and 2 are very successful with one boy having

some ADD qualities but no physical problems. I have come to admire my

brother's perseverance and efforts over his life as he has struggled to

raise his family.....quite successfully without huge support I might

add, and despite the difficulties handed to him initially. It gives me

hope re what my daughter may yet achieve.

Kindest Regards,

Bernie, Canada

pectus carinatum/excavatum/ Bernie; AJ

Bernie wrote, " ... my older brother has pectus excavatum....Strange to

me that my family has both types. Anyone heard of this or read any

studies. My hunch is there must be a relationship "

Laxity " was wondering how many other EDSers have pectus carinatum "

Pectus excavatum is much more common than pectus carinatum, but both

kinds of pectus deformities can be found in some of those with inherited

connective tissue disorders. Pectus excavatum is mentioned in medical

papers as a feature of EDS, but I haven't found one mentioning pectus

carinatum ( it is mentioned in other hereditary connective tissue

disorders such as Marfan, Stickler & Shprintzen-Goldberg syndromes, as

well as other genetic disorders. See:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=omim ).

Our youngest daughter had developed pectus carinatum when about one year

old. Our son developed a mild pectus excavatum deformity during

adolescence, which thankfully hasn't worsened (now 17).

Myself, son & eldest daughter all have HEDS. It's now thought our

youngest daughter probably had this too, because of her pectus

carinatum. Before dx I wondered if we actually had EDS, because of our

youngest daughter's pectus carinatum. However, it all seems to make a

bit more sense, when some Drs. appreciate there can be an overlap

between different types of connective tissue disorders. Our son now has

a dx of " Marfanoid EDS. " This isn't found in the EDS nosology, but

describes him perfectly; he looks as though he has Marfan

syndrome...nearly 6', only 126lbs, arm span greater than height, very

long fingers & toes etc. A geneticist that specialises in connective

tissue disorders dx him, & myself. He said we both have HEDS, but

couldn't rule out that our son had a defective fibrillin gene (as found

in Marfan syndrome).

Not a medical paper, but this hospital's website mentions pectus

carinatum being found in EDS:

http://www.cincinnatichildrens.org/health/info/chest/diagnose/pectus-car

inat

um.htm

Interesting....first mention of this, & EDS I've seen,

Gail

North Yorkshire, U.K.

HEDS

Eldest daughter: HEDS

Son: Marfanoid HEDS, Chiari 1 Malformation & syringomyelia