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Biomedical subjects

R Lachman

Publications and source records attributed to R Lachman.

At least 55 records · Page 3Linked to original sources
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↗
PubMed1980

The acardiac monster.

Two cases of acardiac fetuses are presented. Pathological data in 61 cases are tabulated. Cliassification, terminology and patho-physiological findings are discussed. The Acardiac Monster is a form of monozygotic multiple gestation lacking a physiological heart and resulting in a bizarre fetal malformation which is sustained in utero by parasitic anastomoses to the circulation of a normal twin fetus. The precise etiology of this phenomenon is still obscure and suggestions are made for the future evaluation of the acardiac fetus.

Abnormalities, Severe Teratoid↗
PubMed1979

The determination of bone age in the elbow as compared to the hand. A study in 390 children.

In a prospective study, bone age (BA) from both hand and elbow was assessed in 390 children, aged 6-15 years, in order to determine: (a) whether or not BA assessment from the hand and from the elbow give comparable results, and (b) whether the accuracy of predicting skeletal age from the hand may be improved by the additional BA determination in the elbow. BA assessment in the hand was performed according to the method of Greulich and Pyle while the standards of Schinz and Baensch were used for the elbow. Statistical analysis of data was carried out according to age groups as well as according to groups of clinical diagnoses. With only one exception in the group of so-called "healthy individuals", there was no difference between "hand age" and "elbow age". Thus, except in a very small group of subjects, both methods of BA assessment were found to be equivalent in predicting skeletal age in children between 6-15 years. Equivocal results were obtained regarding the question of whether the accuracy of BA assessment in the hand may be improved by the simultaneous BA determination from the elbow. Until further studies on larger statistical material provide more conclusive information in this matter, we feel that the combined determination of BA in the hand and elbow is not warranted for clinical purposes.

Adolescent↗
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↗
PubMed1977

Yersinia colitis.

A 2-year-old child with a febrile, non-bloody diarrheal illness of acute onset with repeatedly negative stool and blood cultures for pathogenic bacteria is presented. Sigmoidoscopic and roentgenographic studies revealed an inflammatory colitis. Unfortunately, diagnostic perserverance and a high index of suspicion resulted in a positive stool culture for Yersinia enterocolitica. Serologic study and clinical course provided data consistent with the diagnosis of an infectious colitis due to Yersinia enterocolitica. This case demonstrates the necessity to consider Yersinia enterocolitica in the radiographic differential diagnosis of Crohn's disease of the colon or ulcerative colitis, as well as intractable diarrhea of childhood.

Biopsy↗
PubMed1976

Heterogeneity in the campomelic syndromes. Long-and short-bone varieties.

Analysis of 9 cases of bilateral bent limbs (campomelia) and dwarfism, as well as a review of the literature, indicate that campomelic syndrome appears to be a well-defined distinct disorder which the authors call long-limbed campomelic syndrome. Other neonates with congenital bent-limbed dwarfism can be classified as having short-limbed campomelic syndrome, and among these at least two distinct forms have been delineated--the craniosynostotic and the normocephalic form. Congenital bent bones also occur in a variety of generalized disorders of ossification that must be distinguished from these well-defined types of campomelic dwarfism.

Abnormalities, Multiple↗
PubMed1974

The kidney in tuberous sclerosis.

Tuberous sclerosis is essentially a hereditary disease dominated by hamartomas in various organs. Symptoms of the disease are referable to expanding growth of these hamartomas, especially in the kidney where these benign lesions most often present with pyuria, hematuria or pain from bleeding. They are apt to be erroneously diagnosed as malignant both clinically and microscopically. Renal symptomatology is most often to be found in the adult patient.

Adolescent↗