Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia.

We recently reported two siblings, a sister and a brother, with intrauterine growth retardation, microcephaly, short stature, mental retardation, facial dysmorphism and multiple costovertebral malformations. These features fit most with the diagnosis of cerebrofaciothoracic dysplasia, or Pascual-Castroviejo syndrome. The second sibling, our index patient, presented also with cleft palate and growth hormone (GH) deficiency, suggesting that endocrinological assessment should be performed in short patients with this syndrome, especially if midline defects are present.

Chronic gastric volvulus and hypertrophic pyloric stenosis in an infant.

Chronic secondary mesenteroaxial gastric volvulus associated with hypertrophic pyloric stenosis has rarely been mentioned in the general medical literature. We report the case of a 2-month-old boy whose clinical symptoms, which included distension of the stomach and projectile vomiting, suggested the diagnosis of hypertrophic pyloric stenosis but who was later diagnosed with chronic secondary mesenteroaxial gastric volvulus. Sonographic examination revealed findings consistent with a rotated stomach, and subsequent plain chest radiography demonstrated a left diaphragmatic eventration.

Swyer-James (MacLeod's) syndrome following pertussis infection in an infant.

Pertussis is a potentially severe disease, especially in infancy. The case of an 8-month-old infant is described who presented the typical radiographic image of unilateral hyperlucent lung or Swyer-James (MacLeod's) syndrome. The infant suffered from pertussis at 20 d of age.