Figure 4

Photographs of the six patients with MLS syndrome and a heterozygous HCCS mutation or Xp22 monosomy. A and B. Patient 2 died at the age of 4 months. She presented with microphthalmia and sclerocornea of the right eye and anophthalmia of the left eye (A). Linear skin defects were observed on her neck (B). C. In the 7-year-old patient 5, linear skin defects and small hemangiomas were noted. She showed microphthalmia and sclerocornea of the left eye and anophthalmia of the right eye. D. Microphthalmia and sclerocornea of both eyes were present in patient 1, while linear skin defects were absent. E. In patient 3 (age 11 months), microphthalmia and sclerocornea of the left eye were diagnosed. No linear skin defects were noted. F, G and H. Linear skin defects on the face of patient 4 were very prominent at birth (F, 4 days old), but healed with age (3 weeks old in G and 2 years old in H). Severe bilateral microphthalmia was observed in the patient. I. Bilateral microphthalmia and sclerocornea were observed in patient 6; she also had typical linear skin defects on her face (photographs submitted with written consent from the patients’ legal guardians for publication in print and online).