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J M Graham

Publications and source records attributed to J M Graham.

336 records · Page 19Linked to original sources
PubMedDate not supplied

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.

This article reviews the newly described biochemical (type I and II collagen) abnormalities and specific gene defects in the skeletal dysplasias. The model of the collagen molecule is described and how collagen is processed from procollagen, where and how abnormalities occur, and the types of abnormalities produced (quantitative and qualitative). The only known type I collagen defects producing skeletal dysplasias--osteogenesis imperfecta, as well as the 'family' of established type II collagen disorders--achondrogenesis type II, hypochondrogenesis and spondyloepiphyseal dysplasia congenita are discussed. Finally, using case presentations, the practical approach to these disorders is shown. The importance of these investigations and the subsequent reevaluation of the clinical and radiological findings of specifically delineated skeletal dysplasias are discussed.

Adolescent↗
PubMedDate not supplied

Evaluation of neonates born with intrauterine growth retardation: review and practice guidelines.

Intrauterine growth retardation affects approximately 10% of live-born infants. Causes of intrauterine growth retardation are heterogeneous, and frequently the care of these infants poses a diagnostic and therapeutic challenge. Diagnosis of impaired fetal growth is an area in which close collaboration among the obstetrician, pediatrician, and dysmorphologist is essential for proper care of these newborns. It is axiomatic that the best way to care for these infants is to establish an accurate diagnosis prenatally or soon after birth and to manage on that basis. An algorithm for evaluation and management of intrauterine growth retardation that is based on available empiric data is presented. These guidelines are intended to guide medical practice and not to replace clinical judgment.

Female↗