The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult.

We describe a mother and infant girl with the Jansen type of metaphyseal chondrodysplasia. The transmission of the syndrome from mother to daughter in this family establishes this as a dominant condition. Characteristic radiographic manifestations of the disorder were obvious at birth. The mother and infant illustrate the two extremes of age where the radiographic manifestations are less characteristic than in middle childhood, since the marked metaphyseal calcifications are absent.

Applications of the pattern variability index (sigma z) to the quantification of dysmorphogenesis in the hand.

We have generated percentiles for the pattern variability index (sigma z) of the hand in 1,088 normal infants, children, and adults and have analyzed pattern variability indices for 820 individuals representing 50 congenital malformation syndromes with respect to the normal percentiles. The majority of the affected individuals exhibited elevated sigma z values for the hand, some vastly in excess of normal, while such syndromes as Down, Turner, and the Prader-Willi syndrome were low rather than high in pattern variability of the hand.

Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies.

We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle phalanges of the second and fifth fingers, small feet, a gap between the first and second toes, and mild syndactyly of the toes or fingers. A characteristic radiologic finding in our family is thinning of the proximal end of the first metacarpal and shortening of that metacarpal. The severity of these findings was asymmetric in our patients. This syndrome is similar to patients described by Brunner and Winter [1991: J Med Genet 28: 389-394], Feingold [1975: Synd Ident 3:16-17, 1978: Hosp Prac 13:44-49], and König et al. [1990: Dysmorphol Clin Genet 4:83-86].

Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.

We describe a brother and sister and an unrelated boy with congenital cerebellar hypoplasia and endosteal sclerosis. All 3 children presented with ataxia and developmental delay, and were found to have microcephaly, short stature, oligodontia, strabismus, nystagmus, and congenital hip dislocation. A previously published case is reviewed. The disorder appears to represent a newly recognized autosomal recessive syndrome.

Torg osteolysis syndrome.

We describe a 9-year-old girl who initially presented at age 4 with evidence of arthritis in her hands, feet, and large joints. Although she had a partial response to anti-inflammatory medications and had some laboratory results consistent with inflammatory disease, radiographs showed carpal and tarsal osteolysis associated with interphalangeal joint erosions. There was also widening of the shafts of the metacarpals and metatarsals with thinning of the cortices. Based on both the clinical progression of her illness and the radiologic characteristics, this child most likely has the Torg syndrome.

Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker.

We describe a "new" mild malformation of the phalanx, which we call the "angel-shaped phalanx" (ASP) because of its resemblance to the little angels used for the decoration of Christmas trees. A particular middle phalangeal type of ASPs is found in a distinct variety of multiple epiphyseal dysplasia with marked retardation of bone age and severe coxarthrosis in adult life, previously reported as "hereditary peripheral dysostosis" [Bachman, 1967: Proc R Soc Med 60:21-22; Giedion, 1969: Fortschr Rontgenstr 110:507-524]. However, these authors overlooked the unique configuration of the middle phalanges. We renamed the condition "angel-shaped phalango-epiphyseal dysplasia (ASPED)", which may be transmitted in an autosomal-dominant manner. Six new patients are added, bringing the total to nine patients (two families and two isolated patients). ASPs were seen in five of six children. The ASPs grew into inconspicuous brachydactyly after physeal closure (3/3). The most important additional radiological finding is late and dysplastic development of both femoral heads (5/5), leading to Perthes-like and osteoarthritic changes and severe hip pain in the early thirties (2/2 adults, having reached this age). The marked retardation of carpal bone age may lead to unnecessary clinical evaluation for endocrine disorders. Less frequent clinical manifestations of ASPED are hyperextensibility of the interphalangeal joints (7/9) and hypodontia (4/7). Other types of ASPs are observed in brachyphalangy type C, spondylo-megepiphyseal-metaphyseal dysplasia, and other conditions. The concept of mild bone abnormalities as specific markers for genetic disease, as with cone-shaped epiphyses and now evident in ASPED, may also be useful for ASPs in general.

Previously undescribed syndrome of spondylometaphyseal dysplasia, osteocartilaginous metaplasia of long bones, and progressive osteolysis of distal phalanges.

We present the findings and clinical course of a Caucasian woman (now age 23 1/2) who has been treated since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal phalangeal osteolysis and soft tissue swelling. Despite extensive evaluations and attempts at effective treatment, the cause and pathogenesis of her unique musculoskeletal disorder remain elusive.

Radiological approaches in the evaluation of joint disease in children.

In summary, the newer technologies in radiology have allowed us to visualize more clearly the manifestation of joint disease in children. The presence of small erosions and cartilage damage can be seen much better with magnetic resonance imaging than with any other modality short of arthrography, a much more invasive examination. Joint effusion, although sometimes visualized with conventional radiography, is probably best recognized with ultrasound or magnetic resonance imaging, although it can be detected with computed tomography as well. For the evaluation of avascular necrosis that can be associated with steroid use in joint disease, bone scintigraphy is a simple, sensitive method. Magnetic resonance may be as or more sensitive and gives additional information as well. In the detection of change with time, conventional radiography probably will remain the standard as it is still the simplest, least expensive examination; however, it has many limitations in specific cases. Bone scintigraphy may be of value in selected cases. Although we have still not had enough experience with magnetic resonance imaging to use it as a way of evaluating progress of joint disease, it promises to be the most sensitive radiologic measure of evaluating progress as small anatomical changes can be detected within the cartilage, which cannot be done easily with other means.

CT evaluation of pediatric hip disorders.

CT plays an important role in the management of children with congenital dislocation of the hip and torsional abnormalities of the femur. In addition, CT is also useful in evaluating children with inflammatory, neoplastic, and traumatic abnormalities of the pelvis.

Respiratory insufficiency in newborns with abdominal wall defects.

Respiratory failure in newborns with abdominal wall defects has been attributed to increased intra-abdominal pressure and elevation of the diaphragm after closure. Despite surgical techniques designed to minimize intra-abdominal pressure, we have observed prolonged respiratory insufficiency in several such infants. We reviewed the charts of 108 infants from 1975 to 1982 who had abdominal wall defects: 53 with gastroschisis, 29 with small omphaloceles, 22 with liver-containing or giant omphaloceles (GO), and four with cloacal exstrophy. Nine infants with GO (41%) had prolonged respiratory insufficiency and five died. Infants with GO required longer periods of oxygenation and ventilation (P less than .001, ANOVA) than infants with other abdominal wall defects. Clinical observation suggested that infants with GO have a small, narrow thorax. We obtained detailed measurements from the chest radiographs of infants in all groups. After correction for birth weight, babies with GO had smaller chest widths (P less than .001) and lung areas (P less than .05) than infants with other abdominal wall defects. At autopsy, one newborn with GO was found to have severe pulmonary hypoplasia. Prolonged respiratory insufficiency in infants with GO may be explained by pulmonary hypoplasia and/or by a narrow chest deformity which limits lung expansion.

Useful measurements in the evaluation of hand radiographs.

Measurements are useful in the radiologic evaluation of the hand. They permit an objective evaluation of subtle alterations in the relative lengths of hand bones, which may be useful in the diagnosis of many congenital malformation syndromes. Evaluation of width of the carpus can be useful in the evaluation of juvenile rheumatoid arthritis as well as many bone dysplasias. Carpal angle measures, the relative position of the distal radius and ulna, as well as cortical measures of the second metacarpal have many clinical applications.

Evaluation of joint disease in the pediatric hand.

Juvenile rheumatoid arthritis, leukemia, hypertrophic osteoarthropathy, sickle cell disease, and child abuse can all be causes of joint disease in the child's hand. The role of radiology is to diagnose disease and follow disease progression so that therapy can be modified. Because much of the child's hand is unossified cartilage, measurements, bone mineralization, and maturation are important components of the radiologic evaluation.

Radiological approaches to pediatric joint disease.

With the recent advances that have become available with imaging, we are able to gain considerable information about joint diseases. Although conventional radiography still plays a very important part in the diagnosis of joint disease, ultrasound, computed tomography, magnetic resonance imaging, and nuclear medicine studies have all enhanced our ability to evaluate joint disorders. Each of these modalities need not be used in every patient but when chosen carefully, can efficiently provide useful information both for diagnosis and management. These various modalities are also extremely useful to rule out the mimics of joint disease. Magnetic resonance has recently been shown to be useful in evaluation of dermatomyositis and of vasculitides in the brain.

A simple approach to lightening an overexposed film with a blue ray copier.

It is sometimes necessary to have lighter versions of radiographs. Rather than re-expose a patient, a lighter radiograph frequently can be obtained by copying. This article describes a simple way to circumvent major internal alteration to the Blue Ray copier to permit an easy and effective lightening process.