Table 3

Clinical findings in individuals with LZTR1 variants

Clinical findingsBrazil F3Brazil F4
Age11 years 5 months45 years69 years14 years38 years16 years15 years12 years3 years 6 months
Perinatal data
 Gestational ageTermTermTermTermTerm
 BW, g22702750285028502790
 Length, cm454646
Typical facial features+++++++++
Current height131.5 cm147 cm156 cm146 cm151 cm158 cm153 cm135 cm (11 years)79 cm (3 years)
 Height SDS for WHO-standard−2.1−2.5−2.9−1.8−1.9−0.7−1.8−1.2−3.8
 Height SDS for NS-standard0.4−−1.0
Short/webbed neck++++
Pectus deformity++++
Cardiac abnormalityPVS/ASDMVPMVPPVSND
GU abnormality
 Renal abnormality
Abnormal hemostasis++ND
 Prolonged ATTP+
 Factor XI deficiency+
Ophthalmological abnormality+
 Prominent corneal nerves+
Ectodermal findings++
 Curly hair++
 Sparse eyebrows+
 Hyperkeratosis pilaris+
 Ulerythema ophriogenes
Developmental delay
Learning disabilityNA
Other findingsLacrimal duct obstructionNeviNeviHemangioma
Mutation (NM_006767.3)c.742G>A; p.G248Rc.850C>T; p.R284C
Clinical findingsBrazil F5Brazil F6Poland F1
Age16 years 1 month30 years18 years53 years
Perinatal data
Gestational age35 weeksTermTerm
 BW, g213039304000
 Length, cm475253
Typical facial features++++
Current height, cm172.6164183153
 Height SDS for WHO-standard0.30.11.0−1.6
 Height SDS for NS-standard3.
Short/webbed neck++
Pectus deformity+
Cardiac abnormalityPVS/ASDLVHMVIAoCo
GU abnormality
 Renal abnormality
Abnormal hemostasis+
 Prolonged APTT+
 Factor XI deficiency
Ophthalmological abnormality+Hyperopia
 Prominent corneal nerves+
Ectodermal findings+
 Curly hair+
 Sparse eyebrows
 Hyperkeratosis pilaris
 Ulerythema ophriogenes
Developmental delay++
Learning disability++
Other findingsLymphedema, varicose veins
 Mutation (NM_006767.3)c.859C>T; p.H287+c.356A>G; p.+119Cc.740C>A; p.S247N
  • *Neurinomas of right hand and forearm, lipoma of thorax.

  • AoCo, aorta coarctation; APTT, activated partial thromboplastin time; ASD, atrial septal defect; BW, birth weight; GU, genitourinary; LVH, left ventricular hypertrophy; MVI, mitral valve insufficiency; MVP, mitral valve prolapse; NA, not applicable; ND, not done; NS, Noonan syndrome; PVS, pulmonary valve stenosis; SDS, SD score.