Patient | Eyes | Arms | Ears | Hearing | Kidneys | Feet | Heart | Other |
---|---|---|---|---|---|---|---|---|
Structural eye anomalies in family 2 are bilateral segmented disc hypoplasia (I.2) and retinal coloboma on left, and right dysplastic disc with bilateral nystagmus (II.1). References: family 1, MacDermot K, Winter R. Am J Med Genet 1987;27:313–19; family 2, Becker K, et al, J Med Genet 2002;39:68–71. | ||||||||
AR, absent radius/radii; AT, absent thumb(s); Bilat, bilateral; CHL, conductive hearing loss; DA, Duane anomaly; dilat, dilatation; disloc, dislocated; HL, hearing loss; HN, hydronephrosis; HPL, hypoplasia; HPLH, humerus hypoplasia; HPLK, hypoplastic kidney; HPLR, radius hypoplasia; HPLU, ulna hypoplasia; HPLT, thumb hypoplasia; HS, horseshoe; L, left; N, normal; NR, no abnormality reported; PC, pelvicalceal; PRPD, preaxial polydactyly; PSS, prenatal serum screening; R, right; SNHL, sensorineural hearing loss; struct anom, structural anomaly. | ||||||||
Family 1 | ||||||||
I.1 | N | Bilat AT, HPLH L, AR L, HPLR + HPLU R | N | N | N | NR | NR | |
II.1 | Bilat DA | Bilat AT, AR, HPLU | N | N | N | NR | N | White hairlock, hyper/depigmented skin patches |
II.3 | Bilat DA | Bilat AT+AR, HPLU, HPLH, HPL deltoid muscle | N | N | N | NR | N | |
III.1 | NR | Bilat radial ray defects | NR | NR | NR | NR | NR | |
Family 2 | ||||||||
I.2 | DA R, struct anom | Bilat AT + AR, HPLU | N | NR | N | NR | NR | Thalidomide exposure of mother |
II.1 | DA L, struct anom | AT L + HPLT R | N | Bilat CHL | PC dilat L, VUR | NR | NR | |
Family 3 | ||||||||
I.1 | Bilat DA | Bilat AR, AU + AT | N | N | Pelvic kidney L | NR | ||
II.1 | N | Bilat AT | N | N | NR | NR | NR | |
II.3 | Bilat DA | R: HPLT, HPL metacarp I + thenar L: AT | N | N | HS kidney | NR | NR | Temporo-mandibular joint instability |
Family 4 | ||||||||
II.1 | Bilat DA | L: AT, R: HPLT, bilat HPLR | N | N | HPLK R | Bilat talipes | NR | Bilat epicanthic folds, hypertelorism, low hCG (PSS) |
Family 5 | ||||||||
II.2 | Bilat DA | Bilat AT + HPLR | N | NR | NR | NR | NR | Hip dislocation |
III.2 | Bilat DA | Bilat AT + HPLR | N | Mild HL L | Pelvic kidney R, HN L | NR | N | Subluxated hip L, disloc shoulder, lumbo-sacral meningocele |
III.3 | Bilat DA | Bilat AT + HPLR | NR | NR | NR | Tibial hemimelia | NR | |
Family 6 | ||||||||
II.2 | Bilat DA | Bilat HPLR, PRPD L | Bilat dyspl | Bilat SNHL | NR | NR | NR |