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D Sillence

Publications and source records attributed to D Sillence.

49 records · Page 3Linked to original sources
PubMed1987

Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes.

Thirteen newborns with lethal short rib-polydactyly (SRP) have been reviewed, 11 with SRP type III (Verma-Naumoff) and 2 with SRP type II (Majewski). In the former group there were three sets of siblings. The excess of males with SRP type III (Verma-Naumoff) is confirmed in this present study. A high frequency of phenotypic females including sex-reversed constitutional males with SRP type I (Saldino-Noonan) is in marked contrast to these findings in SRP type III. Possible hypotheses include variable expressivity in non-Majewski short rib-polydactyly syndromes with sex-reversed and constitutional female cases tending to show more severe phenotypic expression both in terms of major anomalies and skeletal dysplastic effects.

Bone and Bones↗
PubMed1986

A new type of achondrogenesis.

A new type of neonatal death dwarfism, resembling the achondrogenesis syndromes on clinical examination but presenting distinctive radiographic and microscopic features has been described. It presents another, new form of achondrogenesis.

Achondroplasia↗
PubMed1986

Prenatal screening.

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Congenital Abnormalities↗
PubMed1985

Dyssegmental dysplasia (report of two cases with a review of the literature).

Two cases of dyssegmental dysplasia, a rare lethal skeletal dysplasia in the newborn, are reported. Two different forms of dyssegmental dysplasia can be distinguished--the lethal Silverman type and the less severe Rolland-Desbuquois type. In this report, both cases are of the Silverman type. Histopathology of chondro-osseous tissue confirms the similarity in pathologic findings to Kniest dysplasia.

Female↗
PubMed1985

Boomerang dysplasia.

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Abnormalities, Multiple↗
PubMed1981

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

Skin fibroblasts of human males affected with adrenoleukodystrophy (ALD) have previously been shown to be abnormal with respect to C26 fatty acid content. Skin fibroblast clones from heterozygotes in three families segregating this mutation have been analyzed and are of two types: clones with normal ratios of C26 to C22 fatty acids and clones with an excess of C26 fatty acids similar to that found in cells of affected males. This indicates not only that the locus is X linked but also that it is subject to inactivation. In most of the heterozygotes there were significantly more clones of abnormal type than those expressing the normal allele, indicating a proliferative advantage in vitro for skin fibroblasts of mutant type. The increased levels of fatty acids in plasma in most heterozygotes and the phenotype of blood cells of women heterozygous for both ALD and glucose-6-phosphate dehydrogenase (G6PD) in one family are evidence that selection favoring the mutant allele may occur in vivo as well as in vitro and may explain why many heterozygotes manifest clinical symptoms of the disease. These studies have also revealed the close linkage between ALD and G6PD loci, because there are no recombinants among 18 informative offspring of doubly heterozygous mothers. Therefore, the ALD locus can be mapped on the human X chromosome near the G6PD locus at Xq28.

Adrenal Insufficiency↗
PubMed1981

Diastrophic dysplasia: the death of a variant.

Diastrophic dysplasia is a distinct autosomal recessive disorder originally described in 1960. Since that time, a number of patients with similar but less severe involvement have been diagnosed as having a "diastrophic variant" disorder. This study reviews the radiological features of classic diastrophic dysplasia and compares them with the radiological findings in 26 patients with the diastrophic variant disorder. It is concluded that there is a wide variability in the phenotypic expression of diastrophic dysplasia even within sibships, and that cases of diastrophic variant disorder are actually mild forms of diastrophic dysplasia.

Adolescent↗
PubMed1981

Osteogenesis imperfecta: an expanding panorama of variants.

Our concept of osteogenesis imperfecta (OI) has expanded considerably in the last decade. Both clinical and genetic studies on the one hand and biochemical studies on the other suggest considerable pathogenetic heterogeneity. Clinically, four broad groups can be distinguished. Two groups are characterized by dominant inheritance of osseous fragility with further heterogeneity determined by the presence or absence of opalescent dentin in families. A further two groups are characterized by autosomal recessive inheritance of severe or extreme bone fragility. An X-linked variety of OI also seems likely and a number of unique variants have been reported. These clinically defined groups are likely to represent classes of molecular defects. While there is evidence for disturbed regulation of collagen synthesis in some groups, it is possible that the primary defect in some cases may be in glycosaminoglycan/proteoglycan metabolism or even in skeletal cell metabolism leading to defective skeletal organization. Insight into the pathogenesis of these disorders will eventually permit specific therapy, prenatal diagnosis and more accurate genetic counseling for the osteogenesis imperfecta syndromes.

Adult↗
PubMed1980

An embedding method for histochemical studies of undecalcified skeletal growth plate.

We have used glycol methacrylate to study undecalcified skeletal growth plate and subchondral bone. Minor modifications of the original technique including dehydration in glycol methacrylate vacuum infiltration and polymerization in the cold make it quite suitable for embedding of such tisssues. Moreover, specimens can be processed quickly and the morphologic and biochemical integrity of the tissue retained so that histochemical procedures can be readily applied. Collagen, glycosaminoglycan, glycogen, lipid, calcium and the activity of alkaline and acid phosphatase were localized. This technique appears to be very useful for studying skeletal tissues.

Acid Phosphatase↗
PubMedDate not supplied

Spondylo-metaphyseal dysplasia corner fracture type (a cautionary tale).

Spondylo-metaphyseal dysplasia Sutcliffe type is a rare disease characterised by oval vertebral bodies, coxa vara and metaphyseal irregularities. It was named spondylo-metaphyseal dysplasia corner fracture type by Langer et al. as corner fractures are a constant feature later in life. We report 3 further cases of spondylo-metaphyseal dysplasia Sutcliffe type; one without coxa vara and 2 bone dysplasias with distinctive radiographic features--different from spondylo-metaphyseal dysplasia Sutcliffe type, for diagnosis. Both of the latter showed corner fractures. Corner fractures are a characteristic but not diagnostic feature of spondylo-metaphyseal dysplasia Sutcliffe type.

Adolescent↗