Fig. 4

Clinical features. In the five-year old Indian patient (case A) the following features were noted: (a) flat face, telecanthus, orbital fullness, upslant of palpebral fissures, prominent nasolabial folds, (b) brachycephaly, midface retrusion and low-set ears, (e, f) mild brachydactyly and a deformed right thumb due to an unstable and lax interphalangeal joint, (g) broad and medially deviated great toes with sandal gap and flat feet and (c, d, h, i, j) extra skin folds and significant skin laxity. The proband of family B presented with (k, l) hypertelorism, pectus excavatum, clubfeet and hypermobile joints whereas the mother (III-2) demonstrated hypertelorism and joint hypermobility (m, n)