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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance

Figure 1

Pedigree of the affected family with some clinical phenotypes of some members. (A) Pedigree showing consanguinity in all branches of the family. There are four affected members in branch I and one affected in branch III. (B) Facial appearance of IV-1 at 12 years of age. Note macrocephaly, frontal bossing with depressed nasal bridge. (C) Facial appearance of IV-4. Note macrocephaly, frontal bossing, depressed nasal bridge and low set ears. (D) and (E) Elbow joint and hands of IV-2. Note prominent elbow joint and wrist joint with spindle shaped fingers.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172