A variant of Cenani-Lenz syndactyly (CLS): review of the literature and attempt of classification
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
References (18)
- et al.
Totale Syndaktylie und totale radioulnare Synostose bei zwei Brüdern. Ein Beitrag zur Genetik der Syndaktylien
Zeitschrift für Kinderheilkunde
(1967) - et al.
- et al.
Cenani-Lenz syndrome with renal hypoplasia is not linked to FORMIN or GREMLIN
Clin Genet
(2001) - et al.
Cenani-Lenz type of syndactyly: a complex type of syndactyly with multiple synostoses
Genet Couns
(1992) - et al.
Cenani-Lenz syndrome in father and daughter
Genet Couns
(1996) Oligodactyly and multiple synostoses of the extremities: two cases in sibs. A variant of Cenani-Lenz syndactyly
Human Genet
(1979)- et al.
Totale Syndaktylie mit mesomeler Armverkürzung, radioulnaren und metacarpalen Synostosen und Disorganisation der Phalangen (‘Cenani-Syndaktylie’)
Klinische Paediatrie
(1976) - et al.
Dermatoglyphics in patients with Cenani-Lenz type syndactyly: studies in a new case
Am J Med Genet
(1997)