Table 2

 Phenotypic features of the participating family members

PatientEyesArmsEarsHearingKidneysFeetHeartOther
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.1NBilat AT, HPLH L, AR L, HPLR + HPLU RNNNNRNR
II.1Bilat DABilat AT, AR, HPLUNNNNRNWhite hairlock, hyper/depigmented skin patches
II.3Bilat DABilat AT+AR, HPLU, HPLH, HPL deltoid muscleNNNNRN
III.1NRBilat radial ray defectsNRNRNRNRNR
Family 2
I.2DA R, struct anomBilat AT + AR, HPLUNNRNNRNRThalidomide exposure of mother
II.1DA L, struct anomAT L + HPLT RNBilat CHLPC dilat L, VURNRNR
Family 3
I.1Bilat DABilat AR, AU + ATNNPelvic kidney LNR
II.1NBilat ATNNNRNRNR
II.3Bilat DAR: HPLT, HPL metacarp I + thenar L: ATNNHS kidneyNRNRTemporo-mandibular joint instability
Family 4
II.1Bilat DAL: AT, R: HPLT, bilat HPLRNNHPLK RBilat talipesNRBilat epicanthic folds, hypertelorism, low hCG (PSS)
Family 5
II.2Bilat DABilat AT + HPLRNNRNRNRNRHip dislocation
III.2Bilat DABilat AT + HPLRNMild HL LPelvic kidney R, HN LNRNSubluxated hip L, disloc shoulder, lumbo-sacral meningocele
III.3Bilat DABilat AT + HPLRNRNRNRTibial hemimeliaNR
Family 6
II.2Bilat DABilat HPLR, PRPD LBilat dysplBilat SNHLNRNRNR