Cenani-Lenz syndactyly in a patient with features of Kabuki syndrome.

摘要

We report a 5 9/12-year-old male with Cenani-Lenz syndactyly (CLS). He presented with three malformed digits on each hand and bilateral 2,3 partial cutaneous toe syndactyly. The expression of this presumed autosomal recessive disorder is variable and has been confused with split hand foot malformation (SHFM). Not all CLS patients show the typical 'spoon hand' configuration originally described. Affected CLS patients show a disorganized appearance of the phalanges with some degree of syndactyly/oligodactyly, in addition to metacarpal and carpal fusions. Radioulnar synostosis may be present. Cases lacking radioulnar synostosis may show proximal dislocation of the radial heads. The distal limb anomalies seen in our patient resemble other reported CLS patients. Radiographic evaluation showed a disorganized appearance of the phalanges, a 'kissing delta phalanx' of one proximal phalanx, metacarpal fusions, carpal coalitions and posterior subluxation of the radial heads. Clinical examination revealed featuressuggestive of Kabuki syndrome including large, prominent ears, sparse, medially flared and arched eyebrows, wide palpebral fissures, long eyelashes, and oligodontia with flat head 'screwdriver-shaped' incisors, in addition to persistent finger and thumb-tip pads. The faces of CLS patients are rarely shown or described. However, some patients in published reports have large, prominent ears. A recent report suggested midfacial dysmorphism in two patients with CLS (). Although the findings of CLS with features of Kabuki syndrome in our patient may be coincidental, the faces of CLS patients need to be carefully evaluated and described to determine if there is a distinctive accompanying facial phenotype.