Figure 1.
Clinical Findings, Pedigrees, and MASP1 Mutations
(A) Phenotypic findings in affected individuals. Note hypertelorism, blepharoptosis, telecanthus, downslanting palpebral fissures, arched eyebrows, and supraumbilical depression in all three patients. Bifid nasal tip and limitation of upward gaze are seen in individual 1-102 of family 1 and individual 2-101 of family 2. A coccygeal skin appendage with a groove, characteristics of Malpuech syndrome, and high nasal bridge with posteriorly rotated ear are seen in individual 2-101 of family 2.
(B) Family 1 pedigree and longest autozygous run at chromosome 3q27 that cosegregates with the phenotype.
(C) Family 2 pedigree and haplotypes flanking the MASP1 gene.
(D) Confirmation of mutations in the MASP1 gene in families 1 and 2.