Table 2

Phenotypic effects

Family No Sex Age Lymphoedema (age onset in years) Distichiasis TOF/ heart defect Cleft palate Webbed neck Other clinical features
1M2-150 42+ (12)+−−−−
M2-150 14−−−−−Healthy, no mutation
M2-150 13++−−−−
F2-150 a+Hydrops fetalis,
cystic hygroma
F2-150 aHydrops fetalis
2Md++−−−−
F2-150 55+ (30)+−−−−
F2-150 34+ (17)+−−−−
F14+−−−−
M2-150 6+++−Photophobia,
cystic hygroma,
arachnoid cysts
3F2-151 82−+−−−−
F39−+−−+Photophobia
M2-150 19−+−−+
F2-151 69++−−−Cellulitis
F2-151 57+ (12)+−−−−
M2-150 28++−+−−
M2-150 2-151 56+ (12)+−−+Ectropion, photophobia,
torus mandibularis,
blepharospasm
M2-150 33+−−−−
M2-150 24++−−−Torus mandibularis
M2-150 2-151 50+ (12)+−−+Ectropion, elephantiasis
M2-151 50+ (10)+−−+−
M2-150 23++−−−−
M2-150 23++−−−−
4M2-150 41+ (12)++−−−
F2-150 35−−−−−Healthy, no mutation
M2-150 13+ (12)+−−−Ptosis, nasal speech
F2-150 11−−−−−Healthy, no mutation
M2-150 8+−−−Ptosis, velopharyngeal insufficiency
F2-150 4+ (neonatal)++−−Periorbital oedema,
velopharyngeal insufficiency
5F2-150 26+−+−−
F2-150 3 mth+−+−−
6Md+?−−−Elephantiasis
Fd (93)+ (puberty)+−−−Photophobia
Fd+ (puberty)?−−−−
F2-150 81+ (puberty)+−−−Photophobia, narcolepsy
Md (38)+++−−−
Fd+ (puberty)+−−−−
M+ (puberty)+−−−−
7M2-150 14+ (6 wk)+−++−
8F2-150 28+ (16)+−−−−
M2-150 12−−−−−Healthy, no mutation
M2-150 28−−−−−Healthy, no mutation
M2-150 6−+−−−Exotropia, bilateral optic
nerve hypoplasia
9F61+ (puberty)+−−−−
F28+ (23)+−−−−

  • ↵2-150 Mutation analysis performed.

  • ↵2-151 Initially described by Falls and Kertesz.5

  • TOF = tetralogy of Fallot, a = abortion, d = dead.