PMC5438966_01
Three photographs of our patient taken at the age of 4 years. Photograph (A) shows a low posterior hairline with low-set posteriorly rotated ears, microcephaly, and mild frontal bossing. Photograph (B) shows down-slanting palpebral fissures and mild ptosis. He has dental crowding and a narrow, high-arched palate (not shown). Photograph (C) shows lasting damage from his cerebral infarct: the right upper limb is flexed and there is reduced muscle tone of the thigh in comparison to the left lower limb. His neck appears broad, with a broad thorax and wide-spaced nipples. His spleen measures 12 cm and marginally distorts the appearance of the abdomen. His skin is soft and mottled and he has clinodactyly. He is <0.4th centile for height, weight, and head circumference, and developmentally he is predicted to have skills appropriate for a 21/2-3-year old. Noteworthy, during the antenatal period, marginal nuchal fold enlargement was documented but otherwise pregnancy and delivery were uneventful.
fped-05-00113-g001.jpg
PMC5438966_01_fped-05-00113-g001.jpg
F1
Examination at age 3 revealed dysmorphic features (Figure 1).