Table 1
Clinical and molecular data in the RHS and EEC families
| Family | Patient | Gender | Diagnosis | Clinical signs | Mutation |
|---|---|---|---|---|---|
| RHS, Rapp–Hodgkin syndrome; AEC, ankyloblepharon-ectodermal dysplasia-cleft; EEC, ectodermal dysplasia, ectrodactyly, cleft lip / palate; E, ectodermal dysplasia (anhidrosis, no tears, sparse hair, pili torti / canaliculi, tooth hypoplasia, dysplastic nails); C, cleft; S, syndactyly. | |||||
| A | I-2 | Female | RHS or AEC | C palate, E, slight ankyloblepharon on right eye | 1859 Del A |
| A | II-1 | Female | RHS | E | 1859 Del A |
| A | II-3 | Female | RHS | C lip/palate, E | 1859 Del A |
| B | II-5 | Female | EEC | Bilateral C lip/palate, left hand S IV/V and absent II/III, right hand S II/V with absent III/IV and clinodactyly I, both feet S III/IV and absent II | R279C |
| B | III-5 | Male | EEC | C lip/palate, obstructed lacrimal ducts, left hand S I/II and absent III, right hand S I/II, left foot S III/IV and absent II, right foot absent II/III | R279C |
| C | I-2 | Female | EEC | Bilateral C lip/palate, sparse eye lashes and eyebrows, obstructed lacrimal ducts, bilateral clinodactyly V, hypoplastic nails | R304Q |
| C | II-1 | Female | EEC | C lip/palate, hypoplastic nails, sparse hair, obstructed lacrimal ducts, right hand preaxial polydactyly, left foot postaxial polydactyly, right foot cutaneous S II/III | R304Q |
| C | II-2 | Female | EEC | Bilateral C, hypoplastic nails, obstructed lacrimal ducts, right hand short distal phalanges III/IV, preaxial polydactyly, left hand absent distal phalanges, right foot cutaneous S III/IV, left foot preaxial polydactyly | R304Q |
| C | II-3 | Male | EEC | Bilateral C lip/palate, hypoplastic nails, obstructed lacrimal ducts, right hand cutaneous S II/III and IV/V | R304Q |
| C | II-4 | Male | EEC | Bilateral C lip/palate, hypoplastic nails, obstructed lacrimal ducts, bilateral hand and foot ectrodactyly, left hand cutaneous SI/II and IV/V, bilateral foot rudimentary II and III and cutaneous S III/IV | R304Q |
