Thymic-renal-anal-lung dysplasia in sibs: a new autosomal recessive error of early morphogenesis.

We report on 3 sisters with a syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR). Two of the 3 infants had a unilobed lung and imperforate anus. Recurrence was detected prenatally by the presence of progressive oligohydramnios and IUGR, a unilateral echogenic cystic mass in the renal fossa, and low amniotic fluid disaccharidases in association with an imperforate anus. Several genetic mechanisms can be invoked to explain this occurrence including autosomal recessive inheritance and an unrecognized chromosome imbalance.

Changes at the base of skull and cervical spine in Down syndrome.

Lateral films of the skull base and upper cervical spine in flexion, extension, and neutral positions in 165 patients with Down syndrome, ranging in age from 16 to 60 years, were analyzed. There is a 20% incidence of atlantoaxial subluxation with a marked preponderance in men (24% incidence compared to 15% in women). In addition, there is a high incidence of degenerative changes at the C2-3 and C3-4 cervical interspaces, especially in patients over 37 years of age; these are unusual sites when compared to the normal population in which the degenerative changes are most often at the C5-6 and C6-7 levels. Four patients demonstrated subluxation at cervical interspaces other than C1-2 and six had congenital fusion of either vertebral bodies or facets in the cervical region. Several patients also had flattening of cervical vertebrae; 20% of patients had nonaeration of the sphenoid sinus and 46% had partial aeration.

Fibromatosis of bone in children.

Radiographs, computed tomograms, and radionuclide bone scans were obtained preoperatively in three children with fibromatosis involving the bones and soft tissues of the extremities. Two of the children had identical scar-like bone lesions of the proximal tibia, which, to the authors' knowledge, have not been reported before in this disease. The lesions recurred in two children.

Childhood choledochal cyst with intrahepatic enlarged cyst-like bile ducts.

A five-year-old boy was investigated for intermittent, crampy abdominal pain over several months. His abdomen was distended. Hepatomegaly and cystic masses were demonstrated in both lobes of the liver on ultrasound and computed tomographic examinations. An operative cholangiogram revealed a choledochal cyst of the cystic duct with massive dilatation of intrahepatic and extrahepatic bile ducts. After resection of the choledochal cyst and anastomosis of the jejunum to the common bile duct, the hepatic ducts have become near normal.

Osteofibrous dysplasia.

Osteofibrous dysplasia is a benign, slowly progressive lesion which generally involves one tibia of an infant or young child, and presents as anterior bowing associated with a painless mass. Surgical intervention is usually not indicated but, when carried out, recurrences are common. Osteofibrous dysplasia is readily distinguished histologically from fibrous dysplasia by fibrous stroma, containing bone trabeculae which are rimmed by osteoblasts, and by a "zonal architecture." The radiographic appearance is that of a benign, lucent, intracortical lesion which is expansile and produces bowing of the tibia. Four patients with this condition are presented.