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Biomedical subjects

D O Sillence

Publications and source records attributed to D O Sillence.

16 recordsLinked to original sources
PubMed1992

Congenital synspondylism.

We present 3 patients with a specific pattern of congenital familial extensive vertebral anomalies (CFEVA) with vertebral and carpal coalition. It is proposed that these patients and two previously reported cases have a vertebral disorder akin to symphalangism in the fingers. The name synspondylism is proposed. Two instances of sib recurrence point to Mendelian segregation in some instances of synspondylism. The syndromes and associations encompassed by CEFVA are reviewed. The clinical and radiographic manifestations of congenital synspondylism are discussed in the perspective of the possible pathogenesis of segmentation disorders of the spine.

Abnormalities, Multiple↗
PubMed1992

Cardiofaciocutaneous syndrome.

A boy aged 6 years 10 months with dysmorphic features of the cardiofaciocutaneous syndrome is reported. This patient had early total alopecia, persistent hypotrichosis and an inflammatory hyperkeratotic dermatosis with psoriasiform features occurring predominantly on the scalp, extensor surfaces of limbs and trunk. Bilateral progressive femoral valgus deformity culminated in unilateral hip subluxation. Previously undescribed neuro-ophthalmologic findings are reported.

Abnormalities, Multiple↗
PubMed1992

Agnathia-holoprosencephaly with tetramelia.

Agnathia is a rare malformation which may occur in isolation or with holoprosencephaly, situs inversus or visceral anomalies. A fetus is described with the lethal malformation complex of agnathia-holoprosencephaly in whom tetramelia was also present.

Abnormalities, Multiple↗
PubMed1991

Fibrochondrogenesis in male twins at 24 weeks gestation.

Fibrochondrogenesis is a rare lethal chondrodysplasia. Only 5 cases have been reported. We report on a pair of affected twins diagnosed at 24 weeks of gestation. Occurrence in sibs and consanguinity in the parents in a previous report support autosomal recessive transmission.

Alkaline Phosphatase↗
PubMed1991

Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele.

The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha 1(III) mRNA and the deletion of 36 amino acids from glycine775 to lysine810 of the triple helical domain of alpha 1(III) chains of type III collagen. The amount of type III collagen in the dermis was only about 11% of normal. The child had the acrogeric form of EDS IV. He had the characteristic facies with a pinched nose, thin lips, and prominent eyes. These facial features, his aesthenic build, thin skin, prominent subcutaneous veins, and aged hands produced a 'cachectic' appearance. These features were evident in early childhood and worsened up to 12 1/2 years when he was last reviewed. Spontaneous bruising, bleeding from the large bowel, constipation, and delayed gastric emptying were other features. In cross section, the dermal collagen fibrils were round and measured 93.3 +/- 11.5 nm in diameter which was not significantly different from control values of 102.5 +/- 13.4 nm. The serum type III procollagen amino-terminal propeptide level of 25.5 ng/ml was within the normal age matched values of 15.5 +/- 7.7 ng/ml despite the low production of type III collagen by cultured fibroblasts. The child probably had a spontaneous new mutation in one COL3A1 allele as only normal sequences were obtained from the corresponding amplified region of the parent's leucocyte DNA.

Adult↗
PubMed1991

Axenfeld anomaly in association with hypomelanosis of Ito.

Hypomelanosis of Ito is a rare neurocutaneous disorder with associated ocular, facial, dental and skeletal abnormalities. The authors describe a case of hypomelanosis of Ito occurring with anterior segment mesenchymal dysgenesis of the Axenfeld type. An attempt is made to explain many of the major features of hypomelanosis of Ito in terms of neural crest origin, and to classify the disease as a neurocristopathy.

Abnormalities, Multiple↗
PubMed1979

Genetic heterogeneity in osteogenesis imperfecta.

An epidemiological and genetical study of osteogenesis imperfecta (OI) in Victoria, Australia confirmed that there are at least four distinct syndromes at present called OI. The largest group of patients showed autosomal dominant inheritance of osteoporosis leading to fractures and distinctly blue sclerae. A large proportion of adults had presenile deafness or a family history of presenile conductive hearing loss. A second group, who comprised the majority of newborns with neonatal fractures, all died before or soon after birth. These had characteristic broad, crumpled femora and beaded ribs in skeletal x-rays. Autosomal recessive inheritance was likely for some, if not all, of these cases. A third group, two thirds of whom had fractures at birth, showed severe progressive deformity of limbs and spine. The density of scleral blueness appeared less than that seen in the first group of patients and approximated that seen in normal children and adults. Moreover, the blueness appeared to decrease with age. All patients in this group were sporadic cases. The mode of inheritance was not resolved by the study, but it is likely that the group is heterogeneous with both dominant and recessive genotypes responsible for the syndrome. The fourth group of patients showed dominant inheritance of osteoporosis leading to fractures, with variable deformity of long bones, but normal sclerae.

Adolescent↗
PubMed1979

Morphologic studies in the skeletal dysplasias.

Considerable progress has been made in the delineation of the genetic skeletal dysplasias, a heterogeneous group of disorders, that consist of over 80 distinct conditions. Morphologic studies have added a further dimension to the delineation of these conditions, their diagnosis, and the investigation of their pathogenetic mechanisms. In certain diseases, the morphologic alterations are characteristic and pathognomonic. In others only nonspecific alterations are observed, whereas in still other disorders growth-plate structure is essentially normal. Histologic, histochemical, and electronmicroscopic studies of growth-plate cartilage have provided new insights into the complexity of morphogenetic events in normal growth through the demonstration of morphologic defects in the genetic disorders of skeletal growth. As yet, very little is known of the biochemical abnormalities underlying the morphologic abnormalities. However, the great variety of morphologic findings points to a number of different pathogenetic defects in the synthesis, release, and assembly of connective tissue macromolecules and in the cells involved in growth-plate metabolism.

Bone Diseases, Developmental↗
PubMed1978

Neonatal dwarfism.

We have not attempted to discuss the many forms of dwarfism with onset in childhood or adolescence, nor has it been possible to examine the many other causes of the small for gestational age infant, recently the subject of a review in this series. The evaluation of a child with a skeletal dysplasia requires a multidisciplinary approach utilizing clinical, genetic, radiographic, and morphologic findings. Because of the marked heterogeneity of this group of disorders, genetic and prognostic counseling should not be given until the physician is confident that he has made a definitive diagnosis.

Bone Diseases, Developmental↗