Search PubMed⌕ Search

Biomedical subjects

J Spranger

Publications and source records attributed to J Spranger.

At least 163 records · Page 9Linked to original sources
PubMed1976

A new familial intrauterine growth retardation syndrome the "3-M syndrome".

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.

Abnormalities, Multiple↗
PubMed1976

Heterogeneity of Dyggve-Melchior-Clausen dwarfism.

Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since the two conditions appear to breed true they seem to be genetically different. We propose to name the former "Smith-McCort dwarfism" to clearly distinguish it from the DMC syndrome in which mental retardation is a constituent part. Both conditions are inherited as autosomal recessive traits. Spinal cord compression due to atlantoaxial instability is a serious and preventable complication of both disorders.

Adult↗
PubMed1976

Prenatal diagnosis of mucolipidosis II (I-cell disease).

A pregnancy at risk for mucolipidosis II (I-cell disease) was monitored in which an affected fetus was predicted on the basis of the analyses of lysosomal hydrolases in amniotic fluid and cultured amniotic fluid cells, and by the demonstration of an excessive accumulation of [35S] sulfate-labeled glycosaminoglycans in cultured amniotic cells. This diagnosis was confirmed by performing enzyme assays and [35S] sulfate incorporation studies on material derived from the aborted fetus.

Amniotic Fluid↗
PubMed1976

The radiographic features of mannosidosis.

Skeletal changes seen in 12 patients with mannosidosis included thickened calvaria, ovoid configuration, flattening and hook-shaped deformity of the vertebral bodies, hypoplasia of the inferior portions of the ilia, and mild expansion of the short tubular bones of the hands. The pattern of skeletal changes is that of mild to moderate dysostosis multiplex with considerable intrafamilial variation. The skeletal abnormalities may decrease with age. Correlation of the skeletal abnormalities with clinical and biochemical findings is necessary for a specific diagnosis.

Adolescent↗
PubMed1976

[The metabolic basis of generalized skeletal dysplasia (author's transl)].

Numerous control systems are involved in the growth and differentiation of chondro-osseous tissue. Theoretically, the failure of each single step will result in a peculiar skeletal dysplasia. The resulting disorders are caused by errors in the metabolism of collagen, minerals, complex carbohydrates and the protein of the ground substance. Skeletal dysplasias with a known or probable metabolic base include osteogenesis imperfecta, osteoectasia with macrocranium, Menkes syndrome, the mucopolysaccharidoses and hypophosphatasia.

Adult↗
PubMed1976

[A new (brachymelic) type of primordial dwarfism (author's transl)].

Second report of an apparently new type of primordial dwarfism characterized by severe intrauterine and postnatal growth retardation, striking craniofacial deformities and a peculiar osteochondrodysplasia. The major clinical findings are microcephaly, hypotrichosis, bulging eyes, prominent nose, micrognathia and short extremities. The osteochondrodysplasia is characterized by short and bowed humeri and femora with absent ossification of the femoral necks, small and dysplastic iliac wings, strikingly retarded ossification of the epiphyses and shortened metacarpal I and middle phalanges II-V. Possible this condition is caused by the homozygous state of mutant gene. The brachymelic type of primordial dwarfism differs from other forms of primordial dwarfism (particularly from case I of Seckel) by its skeletal abnormalities. The cases described by Seckel (and sometimes referred to as Seckel or bird-headed dwarfism) are heterogenous: Seckel dwarfism apparently does not exist as a nosologic entity.

Abnormalities, Multiple↗
PubMed1976

[Ballooning mitral valve in tricho-rhino-phalangeal syndrome (author's transl)].

The ballooning mitral valve defect has been repeatedly found in hereditary disorders of connective tissue such as the Marfan syndrome, osteogenesis imperfecta and the Ullrich-Turner syndrome. The present report concerns a nine year old girl with tricho-rhino-phalangeal dysplasia type I and this peculiar anomaly of the mitral valve. Since a literature review disclosed two more cases with tricho-rhinophalangeal dysplasia I and mitral insufficiency, the association may be more than fortuitous. Apparently the mesenchymal changes in tricho-rhino-phalangeal dysplasia I are not limited to the skeletal system.

Abnormalities, Multiple↗
PubMed1976

[Generalized skeletal dysplasias (author's transl)].

Skeletal Dysplasias are an important cause of short stature. Their overall frequency is unknown; their individual number exceeds 80. Prognostic and genetic counseling depend on a correct diagnosis of the specific bone dysplasia. Specific radiographic diagnoses are also needed for the meaningful interpretation of forthcoming histological, ultrastructural and biochemical studies which will help to elucidate the pathogenesis of skeletal dysplasias as prerequisite for a causal therapy.

Adult↗
PubMed1976

[Vater or Vacterl syndrome (author's transl)].

Analysis of malformations in 65 newborns with limb anomalies, 39 with esophageal atresia with tracheoesophageal fistula, and 41 with anal atresia confirmed the nonrandom tendency for the defects of the VATER or VACTERL syndrome to associate together. 11 new patients with 4 or more of these anomalies were compared with 41 previously reported cases. There was good agreement with reference to the frequency of the major malformations noted in the VACTERL association. While anal atresia was not so common in our patients, cardiac anomalies and radial limb dysplasia occurred somewhat more frequently. In accordance with previous findings we also emphasize a single umbilical artery as one of the malformations in the spectrum of the VACTERL association (V = vertebral defects and vascular anomalies). Because of the high incidence of rib anomalies in our patients and in earlier cases with complete medical records it is suggested that the scope of the VACTERL association should be enlarged by this malformation. Thus the R in VACTERL would stand not only for renal defects but als for rib anomalies. Furthermore, the spectrum of anomalies could be extended by auricular defects (A = anal atresia and auricular defects). When one of these VACTERL components is found attention should be drawn to the possibility of the presence of the other associated anomalies. The developmentally correlated malformations seen in the VACTERL syndrome are generally sporadically observed. At the present time the etiology is unknown but heterogeneity is suggested. Although a causal relationship between maternal intake of progesteron/estrogen during the vulnerable period of embryogenesis and the VACTERL syndrome has been suggested, none of the mothers of our patients were exposed to these hormones during early pregnancy. Cytogenetic investigation in one patient and his mother showed a so-called marker chromosome 9 (C9qh+ variant) which is difficult to interpret at the present time.

Abnormalities, Multiple↗
PubMed1975

The Dyggve-Melchior-Clausen syndrome.

The Dyggve-Melchior-Clausen syndrome is an inherited disorder of skeletal development characterized by short-trunked dwarfism, mental retardation, and a distinctive pattern of bone changes. The radiographic features seen in the 15 patients described in this report include platyspondyly with notched end plates of the vertebral bodies, small ilia with broad, frequently lacy crests, lateral displacement of the capital femoral epiphyses, and accessory ossification centers of the first metacarpals, proximal and middle phalanges. Cytological and biochemical data, notably a normal sulfate incorporation into acid mucopolysaccharides of cultured fibroblasts, indicate that the Dyggve-Melchior-Clausen syndrome is not a mucopolysaccharidosis as has been previously suggested.

Cervical Vertebrae↗