Figure 1.

Craniofacial and limb findings in P1 and P2. (a) Facial features of P1 at 5 months include down-slanting palpebral fissures, malar hypoplasia and micrognathia. (b) Floating left thumb of P1. (c, d) Upper limbs radiographs of P1 showing a mildly hypoplastic left radius with absent first metacarpo-phalangeal ray. (e, f) P1 at 3 years showing typical facial features of Nager syndrome. (g) Hypoplasia of right thumb in P1 (left thumb has been surgically removed). (h–j) Milder features of Nager syndrome in P2: asymmetric face, down-slanting palpebral fissures, malar hypoplasia, micrognathia and mild hypoplasia of the right thumb with no creases on its ventral surface.