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

TitleCenani-Lenz syndactyly in a patient with features of Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2004
AuthorsElliott AM, Reed MH, Evans JA, Cross HG, Chudley AE
JournalClinical dysmorphology
Date Published2004 Jul

We report a 5 9/12-year-old male with Cenani-Lenz syndactylyi (CLS). He presented with three malformed digits on each hand and bilaterali 2,3 partial cutaneousi 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 phalangesi with some degree of syndactyly/oligodactyly, in addition to metacarpal and carpal fusions. Radioulnar synostosisi may be present. Cases lacking radioulnar synostosis may show proximal dislocation of the radial heads. The distali 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 posteriori subluxationi of the radial heads. Clinical examination revealed features suggestive of Kabuki syndrome including large, prominent ears, sparse, medially flared and arched eyebrows, wide palpebral fissuresi, long eyelashes, and oligodontiai with flat head 'screwdriver-shaped' incisorsi, 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 dysmorphismi 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 phenotypei.

Alternate JournalClin. Dysmorphol.
Citation Key15194949