A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification

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Summary

An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented. The deformity is believed to be of autosomal recessive inheritance and caused by a disordered axial and longitudinal differentiation of the upper and lower extremities. The classical form is mainly characterised by a complete syndactyly of the hands. Malformations may also affect the bones of the forearm and, to a lesser extent, the lower limbs. We analysed clinical features and compared them with those previously described. According to our research of literature and our clinical findings there seem to exist two grossly different clinical phenotypes: spoon hand type and oligodactyly type. Typical constant clinical features such as carpal, metacarpal and digital synostoses, disorganisation of carpal bones, reduction of digital rays and syndactyly of toes are found in the reported cases. Inconstant features such as radio-ulnar synostosis, brachymesomelia, metatarsal synostoses and reduction of metatarsal rays may be present.

In our case, successful bilateral digital ray individualisation and tendon transfers were performed to construct a grip function of the grossly deformed hands.

Section snippets

Genesis, inheritance

Congenital fusion of the limb bones originate in the fifth week of embryonic life due to a disturbed induction of the digital rays.9 Little information is reported concerning the genetic background of CLS: Gene mapping and gene linkage are unknown.2 Reported cases originating from consanguineous unions2, 4, 6, 9 confirm the autosomal recessive inheritance, though De Smet6 assumes gonadal mosaicism due to an autosomal dominant gene.

Surgery

Very few cases with successful surgical intervention are reported. The reconstruction of an individualised finger out of the anarchic bone-mass was recommended, but the functional results of syndactyly release of the first web to construct an opposable digit for minimal pinch function are regarded as unsatisfactory.5 One of the recently published cases13 underwent an unsuccessful bilateral release of the first web.

Case report

The 18-month-old boy, who was born following an uneventful pregnancy, is the first child of parents who have no clinical or radiological abnormality of their extremities but are second cousins.

The hand and foot anomalies were almost symmetrical. The oligodactylous hands had three grossly deformed and shortened rays with nails (Fig. 1). The metacarpus was represented by two bony masses of which each may be composed of two metacarpals respectively. The radially lying metacarpal block was the

Discussion

Two main different phenotypes of CLS seem to exist: the ‘classic’ Cenani-Lenz type with total syndactyly and synostosis, and the variant with oligodactyly and partial syndactyly (see Table 1). Our patient's hand does not correspond to the classical cup-like hand described by Cenani in 19671 but is comparable to the hand anomalies described by other authors.7, 11, 12, 17

There is disagreement concerning the nomenclature of the different phenotypes. The various clinical features (total/incomplete

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