Table 1

Clinical features of the ATS patients

FamilyIndividualAgeArterial anomaliesSkinHerniaJoint laxityArachno dactylyPectus deformityOther findings
TortuosityArterial stenosis
HES, hyperextensibility of the skin; m, months; y, years.
Pedigree 1IV–218 y+HES++Long face, high palate
IV–318 y++Soft++Long face, high palate
IV–417 y+Redundant+Long face, micrognathia, cleft palate
IV–517 m++
IV–99 y+Cutis laxa++Micrognathia, high palate
IV–108 y+Cutis laxa++Micrognathia, cleft palate
Pedigree 2V–32 m+HES++++Micrognathia, cleft palate, blepharophimosis, arterial aneurysm
Pedigree 3IV–121 y+Soft++Soft nasal cartilage, micrognathia, hypothyroidism
IV–216 y+Soft++Soft nasal cartilage, micrognathia, keratoconus, hypothyroidism
IV–421 y++Laxity+Soft nasal cartilage, micrognathia
IV–519 y++Laxity+Soft nasal cartilage, micrognathia