Figure 1.

Identification of a Neurodevelopmental Phenotype with Variable Eye and Heart Involvement in Four Families

(A) Pedigrees of the four study families. The genotype of each tested individual is also shown (+/+ homozygous, +/− carrier, −/− wildtype).

(B and C) Ultrasonographic image of individual 1_II:3, showing micrognathia (B) and widened cavum septum pellucidum (C).

(D) Frontal view of individual 2_II:7, showing a prominent nose and nasolabial folds and large ears.

(E) Frontal view of individual 2_II:1, showing a prominent nose.

(F and G) Frontal and profile views of individual 3_II:2, showing microcephaly, a prominent nose and nasolabial folds, large ears, and strabismus.

(H and I) Frontal and profile views of individual 3_II:3, showing an underbite, a prominent nose and nasolabial folds, large ears, and hyperpigmented skin.

(J and K) Frontal and profile views of individual 3_II:5, showing a prominent nose and nasolabial folds and medial flaring of the eyebrows.

(L and M) Frontal and profile views of individual 4_II:1, showing a bulbous nose and upslanting palpebral fissures.

(N and O) Frontal and profile views of individual 4_II:2, showing a depressed nasal bridge and abnormal configuration of the antihelix.