Connective Tissue Dx

Question 1

Contractural Arachnodactyly:

Answer 1

AD, FBN2
arachnodactyly, flexion contractures, marfanoid habitus, prominent crumpled ears

Question 2

Ehlers-Danlos Classic type:

Answer 2

AD, COL5A1/2
skin elasticity, widened scars, hypermobility, velvety skin, joint dislocations, hypotonia,
aortic root dilation less common

Question 3

Ehlers-Danlos Hypermobility type:

Answer 3

unk gene
Joint hypermobility, velvety skin, joint dislocations, limb pain
absence of skin fragility

Question 4

Ehlers-Danlos Vascular type:

Answer 4

AD, COL3A1
Major crit: arterial rupture, intestinal/uterine rupture, fhx of vEDS
Minor: thin translucent skin, easy bruising, thin lips, small joint hypermobility, pneumothorax, hip dislocation, club foot
Tx: minimize weight lifting, no contact sports, minimize surgical exploration

Question 5

Ehlers-Danlos kyphoscoliotic type:

Answer 5

AR, PLOD1
Major: stretchy skin, thin scars, easy bruising, joint laxity, hypotonia, kyphoscoliosis
Minor: widened scars, marfanoid habitus

Question 6

Loeys-Dietz syndrome:

Answer 6

AD, TGFBR1/2, SMAD3, TGFB2
Aneurysms/dissections & skeletal findings (pectus, joint laxity, arachnodactyly, clubfoot)
Type 1(75%) includes facial features: hypertelorism, cleft palate, craniosynostosis
Type 2 (25%) includes velvety skin, easy bruising, wideded scars
Tx: beta blockers for aortic root dilation

Question 7

Marfan syndrome:

Answer 7

AD, FBN1
Tall, hyperextensible joints, long fingers, pectus anomalies, subluxation of lens (ectopia lentis)
Aortic dilation/aneurysm is most critical
recurrent pneumothorax
striae are horizontal- wrong direction
ghent criteria: FBN1 alone isnt enough for diagnosis; need 2 out of aortic root dilation, ectopia lentis, FBN1 mutation
differences w/ homocysteinuria: that has rigid joints, vaso-occlusive clots,
tx: beta blockers