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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

Figure 2

Limb phenotypes and pedigree of family 3. Family 3 is a non-consanguineous family from Poland with six affected individuals (grandmother, two affected sisters and their brother, and two male offspring of the brother and one of the sisters). All patients showed SHFM in all for limbs with no long bone involvement. Hearing loss was not reported in this family. The proband shows bilateral SHFM of the hands (a) and feet (b). The father of the proband shows central ray deficiency of the hands (c) and right foot (d). The aunt of the proband presents milder phenotype on the left hand (e) and feet (f).

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