Wolf-Hirschhorn syndrome and a split-hand malformation

Abstract

Ectrodactyly has not previously been reported in children with Wolf-Hirschhorn syndrome (WHS). Based on this premise and the identification of an unbalanced translocation between chromosomes 4p15 and 10q25 in a fetus with ectrodactyly and hemimelia, a second locus for dominantly inherited split hand/foot malformation (SHFM3) was mapped to chromosome 10q24-q25. We present the clinical findings of an infant with WHS and SHFM and suggest that the presence of additional loci on 4p which modify/cause SHFM cannot be excluded.

Hip displacement in Wolf–Hirschhorn syndrome: Report on three cases and review of associated musculoskeletal pathologies

“…Foot defects include congenital talipes equinovarus (Subrt, Blehova, & Sedlackova, 1969) and pes cavus (Coffin, 1968). Hand anomalies have been shown to display variable penetrance (Battaglia et al, 2015), ranging from the minor (clinodactyly, campodactyly, polydactyly) (Battaglia et al, 1999) to the medically significant (ectrodactyly) (Bamshad, O'Quinn, & Carey, 1998; Shanske, Yachelevich, Ala‐Kokko, Leonard, & Levy, 2010).…”

Prenatal diagnosis of partial trisomy 4q26-qter and monosomy for the Wolf-Hirschhorn critical region in a fetus with split hand malformation

“…Based on the previous reports and supported by the current observations it can be proposed that partial trisomy of 4q26-qter is associated with skeletal anomalies of the lower arms and hand anomalies such as ®nger-like thumbs (Mikelsaar et al, 1996) and when in combination with WHS a more severe manifestation like split hand formation, as well as ear and renal malformations, might be observed. But it should be mentioned that renal hypoplasia can be found in WHS and a few reports suggest a potential association with ectrodactyly/split hand formation in WHS also (Bamshad et al, 1998). However, microtia or aortic coarctation are not characteristic for either WHS or trisomy 4q, where in particular rather large ears were reported (Schinzel, 1984).…”

Wolf–Hirschhorn syndrome and ectrodactyly: New findings and a review of the literature

“…The severe phenotypes are most often associated with the less common clinical manifestations including ectrodactyly, hemangiomas, and sacral dimples. Ectrodactyly in a patient with WHS has been reported only four times in the past [Nunes et al, 1995; Bamshad et al, 1998; Petek et al, 2000; Chen et al, 2008]. We have recently evaluated an infant with a large deletion of the distal region of 4p.…”

“…Indeed, Nunes et al 1995 suggested that the occurrence of hemimelia with SHFM in his case with the t(4;10) might be the result of genes on 4p15.1‐pter. The second case was a child with WHS confirmed by karyotype, del(4)(p16), who had a right split‐hand malformation with a median cleft separating digits 1 and 3 from 4 and 5 who also had a sacral dimple [Bamshad et al, 1998; Battaglia et al, 1999]. The authors concluded that the SHFM phenotype in their patient might be secondary to the loss of genes on distal 4p.…”