Biomedical subjects
Publications and source records attributed to J Spranger.
A rapid and comprehensive urinary screening programme is presented by which most of the "heteroglycanoses" can be identified. The diagnoses obtained on a total of 44 patients with different storage disorders shows the usefulness of the method.
A retrospective review of 39 cases of hypochondroplasia revealed consistent but variable degrees of clinical and radiological features sufficient to allow differentiation from other well-established metaphyseal chondrodysplasias. Macrocephaly was noted in approximately half the cases. This contradicts a finding of normocephaly in previous studies.
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Case report of arthrogryposis multiplex congenita with histologically proved neutrogene atrophy of muscles. The also existing reduction deformities of the limbs, showing aplasia and hypoplasia of phalanges may hypothetically be of neuropathic origin.
On the basis of 3 personal observations and of 6 cases from the literature, two peculiar types of enchondromatosis are delineated: 1. Enchondromatosis with generalized, irregular vertebral lesions, and 2. Generalized enchondromatosis with mild platyspondyly.
Clinically visible corneal opacities were observed in a patient with an extremely severe form of mucopolysaccharidosis II. In a second patient with an unusually mild form of mucopolysaccharidosis II, discrete corneal opacities were detected by slit-lamp examination. Thus clear corneae can no longer be regarded as a hallmark of mucopolysaccharidosis II.
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To determine the relationship between so-called "diastrophic variant" and diastrophic dysplasia, four patients considered to have the variant condition were studied in detail and compared to 67 patients (including 17 sets of affected sibs) considered to have classical diastrophic dysplasia. Analysis of the combined clinical, radiographic, histologic, and genetic data indicates that there is wide variability in the phenotypic expression of diastrophic dysplasia, even within sibships, and that those individuals previously labeled as having "diastrophic variant" appear to have mild diastrophic dysplasia.
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Chondrodysplasiae with mesomelic predominance, that is with an elective defect of the middle segment of the limbs, constitute a complex group. The authors pronose to divide it into two types according to the presence or the absence of lesions in bones of the hand. The chondrodysplasiae without impairment of hands and feet include dyschondrosteosis, the type with cubitus and fibula hypoplasia described by Langer, Reinhardt and Pfeiffer's type with dominant transmissions, as well as the types with a relative elongation of fibula. The group of dysplasias in which hands and feet are concerned includes the dyschondrosteosis with shortness of hand, the acromesomelic dwarfism with impairment of phalanxes, described by Campailla and Martinelli, Nivegelt's syndrome, and the dwarfism with disorder in the vertebral segmentation, described by Robinow.
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Two pairs of siblings are described with proportionate dwarfism due to skeletal hypoplasia of prenatal onset. The head size was normal for age and disproportionately large for height. The patients had a characteristic face different from that seen in the Silver-Russell syndrome. The family data are in accordance with autosomal recessive inheritance. In spite of some similarities, the bulk of clinical and genetic evidence suggests that the described intrauterine growth retardation syndrome is different from the Silver-Russell syndrome and presents an apparently "new" entity which has been designated 3-M syndrome.