FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.

Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type. This group of disorders has very characteristic clinical and radiologic features, which distinguish them from other skeletal dysplasias. They display a spectrum of severity in the skeletal findings, ranging from relatively mild hypochondroplasia to lethal thanatophoric dysplasia. We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN.

Thymoma with osseous metaplasia in an adolescent.

A 13-year-old girl was incidentally found to have a partially calcified anterior mediastinal mass during the work-up for a left humeral lesion. The resected specimen demonstrated a lymphocyte predominant World Health Organization type B1 thymoma with nodules of metaplastic bone consistent with osseous metaplasia. In addition, she had multiple osteochondromas, a periosteal chondroma of the humerus, a metaplastic osseous pseudotumor of the thigh, and other benign-appearing sclerotic foci, all manifestations of what is likely an autosomal dominant disorder.

Easier to swallow: pictorial review of structural findings of the pharynx at barium pharyngography.

Barium pharyngography remains an important diagnostic tool in the evaluation of patients with dysphagia. Pharyngography can not only help detect functional abnormalities but also help identify a wide spectrum of structural abnormalities in children and adults. These structural abnormalities may reflect malignant or nonmalignant oropharyngeal, hypopharyngeal, or laryngeal processes that deform or alter normal coated mucosal surfaces. Therefore, an understanding of the normal appearance of the pharynx at contrast material-enhanced imaging is necessary for accurate detection and interpretation of abnormal findings. Congenital malformations are more typically identified in the younger population; inflammatory and infiltrative diseases, trauma, foreign bodies, and laryngeal cysts can be seen in all age groups; and Zenker and Killian-Jamieson diverticula tend to occur in the older population. Squamous cell carcinoma is by far the most common malignant process, with contrast-enhanced imaging findings that depend on tumor location and morphology. Treatments of head and neck cancers include total laryngectomy and radiation therapy, both of which alter normal anatomy. Patients are usually evaluated immediately after laryngectomy to detect complications such as fistulas; later, pharyngography is useful for identifying and characterizing strictures. Deviation from the expected posttreatment appearance, such as irregular narrowing or mucosal nodularity, should prompt direct visualization to evaluate for recurrence. Contrast-enhanced imaging of the pharynx is commonly used in patients who present with dysphagia, and radiologists should be familiar with the barium pharyngographic appearance of the normal pharyngeal anatomy and of some of the processes that alter normal anatomy.

CT manifestations of ileal dysgenesis.

Ileal dysgenesis is an uncommon condition of unknown etiology occurring in the distal ileum in the region of the vitelline duct. The CT appearance of this lesion, although not previously described to our knowledge, is characteristic. We report a patient with ileal dysgenesis who had an abdominal CT scan to evaluate chronic iron deficiency anemia and protein-losing enteropathy. Recognition of this lesion by pediatric radiologists is important; so that surgical treatment, which is simple and effective, can be initiated quickly.

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.

Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts.