Novel spinal dysplasia in two generations.

We report on a father and son with a previously undescribed skeletal abnormality and severe short stature. Antenatal sonographic evaluation of the propositus (son), obtained due to maternal pre-eclampsia, suggested an abnormal spine. At birth, no congenital anomalies were noted and transition to extra-uterine life was smooth. Radiographs performed five days after birth showed spina bifida, hemivertebrae in the mid-thoracic region, and widened lumbar interpedicular distances. MRI of the lower thoracic and lumbar vertebrae documented crescent-shaped appearance of the affected vertebrae and abnormally narrow A-P diameter of the vertebral bodies. Intervertebral discs were small, and the posterior elements, as well as the spinous processes of the affected vertebrae, were markedly hypoplastic. However, there was no narrowness of the spinal canal, and the limbs were unaffected. CT scan with three-dimensional reformatting of the thoracic and lumbar vertebrae documented unusual sagittal clefting of all of the vertebral bodies, which has previously been undescribed. The father had severe kyphoscoliosis and a height of 131.6 cm (-7.5 S.D.). Radiographically, he was found to have multiple segmentation anomalies and diminished A-P diameter of his affected vertebral bodies. The multiple vertebral anomalies are the probable cause for the father's severe kyphoscoliosis. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition and that the father represents a de novo mutation. These radiographic abnormalities have not been described previously and represent a new form of vertebral spinal dysplasia.

Dysplasia epiphysealis hemimelica.

The historical aspects of dysplasia epiphysealis hemimelica are presented in this article along with three cases illustrating some of the problems of understanding and diagnosing a condition. A theoretical discussion of pathogenesis is attached as an example of the kind of argument often presented to Ben Felson when looking for help in understanding radiographic findings. He often indicated the directions for more work, but his knowledge, wisdom, and reasoning powers just as often hit upon a key concept that had eluded us. It is my loss that this article was not written and presented to Ben at a time when we had more available than a file of miscellaneous notes.

Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia.

Eight patients are presented who have a generalized bone dysplasia that resembles severe cleidocranial dysplasia but lacks the cranial and clavicular features of that well-defined condition. Vertebral-body ossification is markedly defective, and ossification centers of the tubular bones are grossly enlarged. These patients also differ from those with variant forms of cleidocranial dysplasia described in the literature. It is suggested that they constitute a separate entity sharing some features of cleidocranial dysplasia, and the descriptive term spondylo-megaepiphyseal-metaphyseal dysplasia is offered as a provisional term until it can be more specifically categorized. The condition appears to be transmitted as an autosomal recessive trait.

Lesions of the femoral neck in Legg-Perthes disease.

Focal destructive lesions of the femoral neck occur in some cases of Legg-Perthes disease and may indicate a potential for marked deformity when healing is complete. Moreover, interventional procedures may aggravate tendencies to final deformity. The lesions should not be confused with infectious or neoplastic destruction. Although their recognition began with the first descriptions of the disease, preoccupation with the changes in the femoral head has directed attention away from them. Five case reports and a review of the literature are presented, with emphasis on the radiographic appearance of these lesions.

Clinical and genetic aspects of Conradi-Hünermann disease. A report of three familial cases and review of the literature.

Most reported cases of Conradi-Hünermann disease are said to be sporadic. The diagnostic radiographic features present in early life tend to disappear with age. Skeletal deformities may persist but are not adequate for diagnosis. It is critical that the examiner look for nonskeletal manifestations of the disease, particularly eye and skin changes, in parents and relatives before assuming that the proband represents a sporadic case. Some of the sporadic cases may also be accounted for by the existence of environmental phenocopies. The proband's mother in the family described in this paper was recognized as a carrier of the gene only after careful eye and skin examination. This observation was particularly important because she was pregnant at the time. Her 16-week-old fetus is the earliest documented example of the disease. Autosomal dominant mode of inheritance is suggested by the familial cases, but the variability of expression could be the result of either genetic or clinical heterogeneity. Sex-influenced factors may account for the different severity of the disease in the two sexes.

Cerebro-costo-mandibular syndrome.

The cerebro-costo-mandibular syndrome is characterized by cerebral maldevelopment or malfunction or both, costal deficiencies, and micrognathia. Cleft palate and glossoptosis are frequently present and contribute to the common presenting sign, neonatal respiratory distress. Intrauterine and postnatal growth retardation are common. Familial cases are rare and the mode of transmission is uncertain. The deficiencies in the posterior portion of affected ribs are the sine qua non for diagnosis; roentgenographic confirmation is required. Since the first description of this pattern of prenatal growth defect in 1966, 19 patients who fulfill the criteria for diagnosis have been reported. We present three additional cases, one of which includes roentgenographic-pathologic correlations, and summarize the combinations of features present in previously described cases. Pulmonary complications incident to lack of thoracic cage support result in poor prognosis for survival.

Unusual roentgenographic presentation of a congenital cystic malformation of the lung.

We describe here an infant with a large, solitary, fluid-filled lung cyst and hyperinflation of adjacent lung tissue in the same lobe. The combination of a fluid-filled cyst and ectatic emphysema in the same lobe suggests bronchial collapse and airway obstruction as a contributory mechanism for this unusual roentgenographic presentation of a congenital cystic malformation of the lung.