Re: A new type of Ehlers-Danlos syndrome associated with tortuous

[Guest guest]

I tried to find some pictures of the terms they used here. I could find

nothing on what " tortuous systemic arteries " were -- I am guessing arteries

that loop over themselves (?) or perhaps the combined effect of those listed

below (?)

Micrognathia

http://www.epub.org.br/ojdom/vol04n02/caso24/ancil_e.htm

bifid pulmonary artery

divided into two lobes

http://www.cdirad.com/cdi/tectrix/program/content/133/132.php

stenosis of the right and/or left pulmonary artery

artery narrowing

http://www.med.umich.edu/rad/mribody/portal/images/234/234.html

aortic knuckle

The contour of the aortic arch protruding from the mediastinal

silhouette in an anteroposterior (AP) radiograph of the chest.

http://www.voxar.com/clinical/heart-repair-anterior.htm

laryngo-tracheomalacia

Laryngotracheomalacia refers to floppiness of the larynx

On 8/27/03 5:34 AM, " ceda " <ceda > wrote:

> Subject: A new type of Ehlers-Danlos syndrome associated with tortuous

> systemic arteries in a large kindred from Qatar

>

> http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids

> =12801113 & dopt=Abstract

>

> A new type of Ehlers-Danlos syndrome associated with tortuous systemic

> arteries in a large kindred from Qatar.

>

> Abdul Wahab A, Janahi IA, Eltohami A, Zeid A, Ul Haque NF, Teebi AS.

>

> Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

> atiqa@...

>

> AIM: To describe the clinical spectrum of anomalies of a new type of

> Ehlers-Danlos syndrome in 32 patients from a large inter-related extended

> family in Qatar. METHODS: Among the 32 patients (from 22 families), there

> were 6 affected pairs of siblings and 2 families with 3 affected siblings.

> The male to female ratio was 2:1, ages ranging from birth to 18 y (mean 7.4

> y). RESULTS: Anomalies included a variable degree of skin

> hyperextensibility, hypermobility of small and large joints, and tortuous

> systemic arteries. Peculiar facial features included epicanthic folds, flat

> saggy cheeks, elongated faces and micrognathia. The combination of an

> elongated aortic arch and tortuous brachiocephalic arteries was seen in 30

> patients (93.8%), aneurysm of the ascending aorta in 3 patients (9.4%),

> bifid pulmonary artery in 27 patients (84.4%) and multiple severe peripheral

> stenosis of the right and/or left pulmonary artery in 7 patients (21.9%). A

> prominent aortic knuckle was observed on the chest roentgenograms of 30

> patients (93.8%); inguinal hernia in 11 patients (34%), diaphragmatic hernia

> and/or hiatus hernia in 7 patients (21.9%); and laryngo-tracheomalacia in 2

> patients (6.3%). Generalized muscle hypotonia was found in 15 neonates

> (46.9%). Parental consanguinity involved in all the patients was traced to a

> common ancestor from a large Bedouin tribe in Qatar. These patients are at

> risk for potentially catastrophic arterial rupture. Linkage to the major

> loci involved in Ehlers-Danlos syndrome and other connective tissue

> disorders, such as Cutis Laxa, Familial Aneurysm, and Osteogenesis

> imperfecta, was excluded by using specific DNA markers, confirming the

> uniqueness of this disorder. CONCLUSION: The study describes a large cohort

> of patients from the same closely related family, sharing peculiar

> dysmorphisim and consistent radiological and echocardiographic features

> different from known types of Ehlers-Danlos syndrome. As known loci involved

> in Ehlers-Danlos syndrome and other connective tissue disorders were

> excluded by specific DNA markers, this appears to be a new type of

> Ehlers-Danlos syndrome or even a new syndrome.

>

> PMID: 12801113 [PubMed - indexed for MEDLINE]

>

[Guest guest]

AJ,

I could not find anything either. I find this article interesting. I

wonder if they are Marfan's people and they just are not seeing it or

something like that. They have too many symptoms to be mosaic. It is a

true mystery - maybe a new Ehlers-Danlos type or a new mutation type?? This

has happened in FAP or they never recognized it and just made them and us

suffer all this time.....who knows??

Love Whole Bunches of Another EDS Type We Can All Fall Under, Carole

[Guest guest]

I was thinking that the doctors who found it had probably worked with the

family for years, and seen those problems with veins in assorted locations

under x-ray in the family. The small chin is sometimes seen with sticklers

syndrome; but I don¹t think they have many vein problems.

On 8/28/03 4:44 AM, " ceda " <ceda > wrote:

>

> Subject: Re: A new type of Ehlers-Danlos syndrome associated with tortuous

>

> AJ,

>

> I could not find anything either. I find this article interesting. I

> wonder if they are Marfan's people and they just are not seeing it or

> something like that. They have too many symptoms to be mosaic. It is a

> true mystery - maybe a new Ehlers-Danlos type or a new mutation type?? This

> has happened in FAP or they never recognized it and just made them and us

> suffer all this time.....who knows??

>

> Love Whole Bunches of Another EDS Type We Can All Fall Under, Carole

>