Clinical findings | Brazil F3 | Brazil F4 | |||||||
---|---|---|---|---|---|---|---|---|---|
Br-3.1 | Br-3.2 | Br-3.3 | Br-4.1 | Br-4.2 | Br-4.3 | Br-4.4 | Br-4.5 | Br-4.6 | |
Proband | Mother | Grandfather | Proband | Mother | Half-sister | Brother | Sister | Half-sister | |
Sex | Female | Female | Male | Female | Female | Female | Male | Female | Female |
Age | 11 years 5 months | 45 years | 69 years | 14 years | 38 years | 16 years | 15 years | 12 years | 3 years 6 months |
Perinatal data | |||||||||
Gestational age | Term | Term | Term | Term | Term | ||||
BW, g | 2270 | 2750 | 2850 | 2850 | 2790 | ||||
Length, cm | 45 | 46 | 46 | ||||||
Typical facial features | + | + | + | + | + | + | + | + | + |
Current height | 131.5 cm | 147 cm | 156 cm | 146 cm | 151 cm | 158 cm | 153 cm | 135 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-standard | 0.4 | −0.1 | 0.2 | 1.7 | 0.5 | 2.6 | 1.6 | 1.3 | −1.0 |
Short/webbed neck | + | + | + | − | − | − | − | + | − |
Pectus deformity | + | + | + | + | − | − | − | − | − |
Cardiac abnormality | PVS/ASD | MVP | MVP | PVS | − | ND | − | − | − |
GU abnormality | |||||||||
Cryptorchidism | NA | NA | − | NA | − | NA | NA | ||
Renal abnormality | − | − | − | − | |||||
Abnormal hemostasis | − | − | + | + | − | − | ND | ||
Prolonged ATTP | + | ||||||||
Factor XI deficiency | + | − | |||||||
Ophthalmological abnormality | + | ||||||||
Funduscopy | − | ||||||||
Prominent corneal nerves | + | ||||||||
Ectodermal findings | − | − | − | − | − | − | + | + | − |
Curly hair | − | − | − | − | − | − | + | + | − |
Sparse eyebrows | − | − | − | − | − | − | + | − | − |
Hyperkeratosis pilaris | − | − | − | − | − | − | + | − | − |
Ulerythema ophriogenes | − | − | − | − | − | − | − | − | − |
Tumours | − | − | − | − | − | − | − | − | − |
Developmental delay | − | − | − | − | − | − | − | − | − |
Learning disability | − | − | − | − | − | − | − | − | NA |
Other findings | Lacrimal duct obstruction | Nevi | Nevi | Hemangioma | |||||
Mutation (NM_006767.3) | c.742G>A; p.G248R | c.850C>T; p.R284C |
Clinical findings | Brazil F5 | Brazil F6 | Poland F1 | |
---|---|---|---|---|
Br-5.1 | Br-5.1 | Po-1.1 | Po-1.2 | |
Proband | Proband | Proband | Mother | |
Sex | Male | Female | Male | Female |
Age | 16 years 1 month | 30 years | 18 years | 53 years |
Perinatal data | ||||
Gestational age | 35 weeks | Term | Term | |
BW, g | 2130 | 3930 | 4000 | |
Length, cm | 47 | 52 | 53 | |
Typical facial features | + | + | + | + |
Current height, cm | 172.6 | 164 | 183 | 153 |
Height SDS for WHO-standard | 0.3 | 0.1 | 1.0 | −1.6 |
Height SDS for NS-standard | 3.9 | 3.2 | 3.9 | 0.9 |
Short/webbed neck | − | − | + | + |
Pectus deformity | − | − | + | − |
Cardiac abnormality | PVS/ASD | LVH | MVI | AoCo |
GU abnormality | ||||
Cryptorchidism | + | NA | − | |
Renal abnormality | − | − | − | − |
Abnormal hemostasis | + | − | − | − |
Prolonged APTT | + | |||
Factor XI deficiency | − | |||
Ophthalmological abnormality | + | − | − | Hyperopia |
Funduscopy | − | − | − | |
Prominent corneal nerves | + | |||
Ectodermal findings | − | − | + | − |
Curly hair | − | − | + | − |
Sparse eyebrows | − | − | − | − |
Hyperkeratosis pilaris | − | − | − | − |
Ulerythema ophriogenes | − | − | − | − |
Tumours | − | − | − | +* |
Developmental delay | + | − | + | − |
Learning disability | + | − | + | − |
Other findings | Lymphedema, varicose veins | |||
Mutation (NM_006767.3) | c.859C>T; p.H287+ | c.356A>G; p.+119C | c.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.