A family with whistling-face-syndrome.

A family with 7 persons affected with whistling-face-syndrome in 3 successive generations is described. The clinical variability of the syndrome within one family is demonstrated by means of examining particular characteristics of four daughters in the family. Six affected persons are female; the only male carrier died in early infancy because of the severity of symptoms. The known autosomal dominant inheritance combined with clinical variability and bias towards female manifestation is present in this family.

[The omovertebral bone--new possibility of preoperative examination by computed axial tomography (author's transl)]. / Das Os omovertebrale--neue diagnostische Möglichkeit: Die axiale Computertomographie.

After a brief review of literature a case of congenital high scapula with omovertebral bone is presented by conventional X-ray films (plain X-ray and a. p. tomography). The additional computed axial tomography is of great diagnostic value, giving the surgeon a good deal of preoperative information on the anatomy of the bony connection between cervical vertebrae and scapula. The possible pitfalls of this new diagnostic technique are discussed as well as its limitation.

The diagnosis of congenital spinal disorders in computed tomography (CT).

9 patients (8 girls, 1 boy) with dysraphic disorders of the spinal column were examined by CT. In 6 cases no diastematomyelia was established. Among the 8 girls, an intraspinal bony septum was identified in 7 instances and a splitting of the cord without identifiable septum was seen in 1 girl. In 6 patients with symptoms dysplastic changes of the cord independent of the segmental level could be identified, such as variable thickness and a heterogenous absorption pattern of the cord. Three girls with symptomless diastematomyelia showed no striking absorption pattern of the spinal cord. Asymptomatic diastematomyelia indicates that frequently concomitant orthopaedic and neurological disorders cannot be referred to a mechanically obstructed ascent of the cord alone, but infer complex etiologies, probably including abnormal medullary vascularization Dural sac and subarachnoid fixation of the spinal cord cannot be identified by CT. Unless there is a possibility of a low lumbar medullary conus or of spinal cord dysplasia or intraspinal lipoma, cyst or fistula, one can assume that the normal ascent of the cord is obstructed with subsequent pull on the cord elements. From our preliminary experience which takes into account conventional radiological procedures, the appropriate task of CT consists of identifying even a minimally calcified septum in radiologically suspected diastematomyelia. Further, with CT one can exclude a splitting of the cord without a calcified septum. CT provides a noninvasive method for assuring diagnosis of diastematomyelia at an early stage and enables one to make the differential diagnosis from pseudodiastematomyelia.