Connective tissue disorders

Question 1

• Marfan-like appearnce
• slender long fingers and toes
• large crumpled ears
• joint contractures (large joints)
• muscular hypoplasia

Answer 1

• Congenital contractural arachnodactyly
• FBN2
• Contractures usually improve with time.
• Kyphosis/scoliosis is present in about half of all affected individuals.
• Dilatation of the aorta is occasionally present.
• severe/lethal form characterized by multiple cardiovascular and gastrointestinal anomalies in addition to the typical skeletal findings.

Question 2

what is the disease mechanism of EDS classic type 1 and 2

Answer 2

• Dominant negative effect
• Abnormal collagen alpha-1 or alpha 2 (V) chains
• interfere with utillization of normal protien

Question 3

Genes responsible for the following condition

Answer 3

• COL5A1
• COL5A2
• Classic Ehlers-Danlos syndrome (cEDS) is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft and doughy to the touch, and hyperextensible, extending easily and snapping back after release (unlike lax, redundant skin, as in cutis laxa).

Question 4

EDS hypermobility type III, can rarely be mistaken for this deficiency.

Answer 4

Tenascin X deficiency

Question 5

what are the major diagnositic criteria for vascular EDS?

Answer 5

• Aortic anuerysms, disection and rupture
• Intestinal rupture during pregnancy
• Uterine rupture
• Family history of vEDS

Question 6

What is the mechanism of disease for vEDS?

Answer 6

Responsible gene: COL3A1

• alterations in type III procologen*
• secretion, intracellular retension, decreased mobility*

Question 7

EDS type associated with kyphoscoliosis, globe rupture, scleral fragility

Answer 7

type VI

EDS Kyphoscoliotic type

Question 8

Findings in the urine of patients with EDS type VI

Answer 8

• Crosslinked telopeptides
• increased deoxypyridinoline to pyridinoline ratio

Question 9

How does type I Loeys Diez Syndrome differ from type 2

Answer 9

• Type I: Craniofacial manifestations : ocular hypertelorism, bifid uvula/cleft palate, craniosynostosis
• Type II: Cutaneous manifestations: velvety translucent skin, atrophic scras, easy bruising

Question 10

Genes associated with Loeys Dietz syndrome

Answer 10

• TGFBR1
• TGFBR2
• TGFB2
• SMAD3

Question 11

Name the findings and the syndrome seen in the pictures

Answer 11

• positive Thumb sign
• Ectopia lentis
• Pectus excavatum
• Marfan syndrome
• FBN1