Table 1.

Phenotypes

	Ocular Phenotype		Articular Phenotype		AuralPhenotype	Orofacial Phenotypea
Familyand Subject	Myopiab	RhegmatogenousRetinalDetachmentc	JointLaxityd	RadiologicalJointAbnormality	HearingLosse	MidfacialHypoplasia	AbnormalNasalDevelopment	MidlineCleftingf
MS12:
II-1	+++	NA	3	0	+ (S)	++	+	0
MS16:
II-1	+++	1	3	+	++ (M)	+	++	++
MS25:
II-1	++	2	0	0	+ (S)	0	0	0
II-3	+++	NA	0	+	0	+	0	0
II-5	+++	2	0	0	+ (S)	0	0	0
III-1	+++	2	0	0	0	0	+	0
III-3	+++	1	0	0	0	0	0	++
III-5	+++	NA	2	0	+ (S)	0	0	++
III-7	+++	0	0	0	0	++	0	0
III-10	+++	NA	0	0	0	+	0	0
IV-2	+++	NA	2	0	0	0	+	0

^aAssessed according to age/sex-matched control (Hall et al. 1989)

^b++ = −5 to −10D and +++ = >−10D.

^c0 = no retinal detachment; 1 = single eye; 2 = both eyes; NA = not applicable because of prophylactic treatment.

^dBeighton score = 1, 2, or ⩾3 more than that in age/sex-matched controls (Beighton 1993).

^e+ = Mild (30 dB); ++ = moderate (30–60 dB); and +++ severe = (>60 dB), compared with age/sex matched controls (data not shown). S = sensorineural; M = mixed.

^f+ = Bifid uvula; ++ = high-arch palate; +++ = cleft-palate repair.