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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

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 1

Limb phenotypes and pedigrees of families 1 and 2. Family 1 is a non-consanguineous family from Poland with three affected individuals. All affected individuals showed split hands and feet in all four extremities. Hands (a-d) and feet (f-i) of the affected one-year-old son. No long bone involvement or other bone phenotype was reported. There was no history of hearing impairment in the family. Neurological and motor development was normal. Family 2 is a non-consanguineous German family with five affected individuals. All affected individuals showed SHFM in both hands and feet and severe hearing loss. The hands (e) and feet (j) of a 69-year-old affected female. No long bone involvement or other bone phenotype was reported. Neurological and motor development was normal in all family members.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172