A technique of examining the infant hip joint with real-time ulfrasound is described. Since the cartilaginous femoral head is clearly imaged by ultrasound, anatomical structures and their relationships can be accurately determined. Dislocated hips are easily detected and subluxations also can be visualised. We report our experience with 131 examinations in 104 patients, comprising 259 single hip studies. Of 83 patients who were previously untreated, there were 178 hip studies with three false-negative and four falsepositive ulfrasound results. No dislocations were missed. Twenty-seven patients who were already being treated were examined to assess hip location, comprising a total of 81 hip studies. In some cases the patients were examined while in an abduction device, cast, or Pavlik harness. In one case a disloction was not detected. The method of examination using real-time ultrasound is considered to be reliable, accurate, and a useful adjunct to radiography. The advantages are that it is non-invasive, portable, and involves no exposure to radiation. The diagnosis of instability and dysplasia in the hip of the newborn infant remains difficult. Although clinical
A male fetus with decreased calvarial mineralization and suspected omphalocele was identified prenatally in a woman with oligohydramnios and Melnick-Needles syndrome (MNS). At autopsy, exophthalmos, prune belly sequence with urethal atresia and megacystis, tetralogy of Fallot, atrioventricular canal defect, and complete malrotation of the gut were identified. Mandibular hypoplasia and delicate, bowed, irregular, long bones and ribs with widening and deep cupping of the metaphyses were found radiographically. In addition, we review 3 previously reported cases of males with similar, lethal malformations, all born to mothers with MNS. It is our conclusion that these anomalies characterize the male MNS phenotype. A review of all reported viable individuals with MNS identified 2 distinct entities: a mild form found only in females, compatible with normal life expectancy in most cases and inherited in an X-linked dominant male lethal or sex limited autosomal dominant pattern, and a different, more severe disorder, termed precocious osteodysplasty, found in both males and females and inherited as an autosomal recessive trait.
Further delineation of a generalized bone dysplasia which we call spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type is presented. This dwarfing condition has several serious complications, with the most common cause of death being spinal cord damage secondary to atlantoaxial instability. It is a heritable condition with an autosomal recessive mode of transmission. Radiologic diagnostic criteria are developed on the basis of studies in 8 patients with the oldest being between 4 and 5 years old. The condition is clinically and radiographically apparent neonatally or in early infancy, and it is probable that all or almost all affected individuals will come to medical attention in the age range screened by this study.
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