Fig. 1: Clinical and radiological features.
From: A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant
Facial appearance of the patient at six (a), 10 (b), and 11 months of age (c). Hypertelorism, a prominent forehead, full cheeks, low-set and posteriorly rotated ears, a broad nasal bridge, anteverted nares, and a long philtrum were noted. Chest radiographs taken at 1 d of age show cardiomegaly, thoracic vertebral hypoplasia, and thoracic hypoplasia (d). Computed tomography examination at 1 d of age and chest radiography at 19 days of age show extensive fusion at C6–T1 and T2–10 (e, f). Longitudinal growth of the thorax was also inhibited at 21 months of age (g).
