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Biomedical subjects

J M Opitz

Publications and source records attributed to J M Opitz.

At least 163 records · Page 9Linked to original sources
PubMed1985

Growth analysis in clinical genetics.

The number of genetic and environmental determinants of human growth is very large and their interplay is responsible for the enormously complex phenomenon of prenatal and postnatal growth and simultaneous differentiation in function. Genetic factors participate substantially in determining size at birth, but become more and increasingly important in the realization of inherent potential after the age of two years. Thus, prenatal growth is determined by a greater number of environmental factors than postnatal growth, including parity, pregnancy spacing, maternal age, size, blood pressure, race, health, smoking, alcohol intake, twinning, intrauterine constraint, etc. Galilei's scale effect sets the upper limit of human size, and our surface area determines our metabolic rate and to some extent our life span. Age and rate of pubertal maturation varies with sex, race, and health of the individual, and may be dramatically influenced by numerous environmental and genetic disturbances. One of the most consistent and dramatic effects of autosomal aneuploidy on development is permanent reduction of growth rate, beginning very early in embryonic development. This effect on growth can be interpreted as an abnormality of developmental homeostasis or canalization. Reduced buffering or canalization of growth has been demonstrated in the DS and constitutes most elegant confirmation of the Waddington-Shapiro hypothesis; it ought to be demonstrable also in most if not all of the gonosomal aneuploidies. Thus, an ultrasonographic analysis of embryonic and fetal growth ought to be normal practice in all, not just high--risk pregnancies, and serve as valuable indicator of fetal developmental abnormality if IUGR is found. Because of difference in prognosis and possible difference in obstetric management, ultrasonographers ought to make a distinction in practice between (proportionate) IUGR and (disproportionate) CSOS. Depending on age of onset and severity, reduced prenatal movement can lead to the fetal akinesia sequence including growth retardation of all or part of the fetus. Neurohypotrophy shows that normal innervation is required for normal growth and function of limbs.

Aneuploidy↗
PubMed1984

Discovery of a connective tissue dysplasia in the Martin-Bell syndrome.

The fact that a connective tissue dysplasia is a component of the Martin-Bell syndrome was a fortuitous discovery. A 26-month-old developmentally delayed boy had many signs of a connective tissue dysplasia for which he was referred to a University center where he was found to be fragile (X)-positive without confirmation of a connective tissue problem. Sensitized by these events and observations, we were able to predict at a glance in an unrelated family the fragile (X)-positive status of 2 subsequently referred brothers with mental retardation and prominent manifestations of connective tissue dysplasia. Thus, the Martin-Bell syndrome is an incompletely recessive, pleiotropic trait involving CNS, testes and connective tissues. The characteristic facial appearance of affected males largely represents interaction of mental retardation, congenital CNS based muscle hypotonia and connective tissue dysplasia. At the 1983 NIH workshop on XLMR there was a general consensus that a connective tissue dysplasia is a component of the Martin-Bell syndrome, a fact since confirmed by others on the basis of objective measurements of finger joint hypermobility and frequent presence of mitral valve prolapse.

Abnormalities, Multiple↗
PubMed1984

The Golabi-Rosen syndrome--report of a second family.

Golabi and Rosen (1984) have reported on a new X-linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre- and postnatal overgrowth, characteristic "coarse" facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies. This was an incompletely recessive trait with some manifestations evident in an obligatory carrier. Here we report on a second family (studied at the University of Wisconsin for over 9 years) in which 3 males born to half-sisters and their mother were affected with the Golabi-Rosen syndrome (GRS). Overgrowth was not a prominent manifestation in these affected males. Presence of cystic kidneys, peculiar skin changes and hepatomegaly make it likely that the Golabi-Rosen syndrome is an X-linked MCA/dysplasia/MR syndrome. Its metabolic basis remains unknown. It seems to be an incompletely recessive trait.

Abnormalities, Multiple↗
PubMed1984

Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.

A newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31----35). The karyotype designation is 46,XY,dir dup(pter----31::p35----p31::p31----qter). The exact nature of the chromosome anomaly was clarified with use of several banding methods.

Abnormalities, Multiple↗
PubMed1984

Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome.

Three unrelated stillborn infants (cases 1-3) are presented here with a distinct constellation of multiple anomalies: namely, multiple pterygia involving chin-to-sternum, cervical, axillary, antecubital, crural and/or popliteal areas, flexion contractures of multiple joints, small chest, hydrops, characteristic abnormal facial appearance with hypertelorism, markedly flattened nasal bridge with hypoplastic nasal alae, cleft palate, micrognathia, apparently low-set malformed ears, short neck with a cystic hygroma at the back of the neck and head, and pulmonary and cardiac hypoplasia. Radiographic studies, in addition, showed scalp edema, microbrachycephaly, flattened mandibular angle, lack of normal curvature at the cervico-thoracic junction, marked bony fusion of posterior spinous processes of older fetuses (cases 1, 2), thin crowded ribs, markedly hypoplastic scapulae, hypoplastic iliac wings, ischia and pubic bones, undermodeling of tubular bones, and radio-ulnar synostosis. Histologic studies of the skeletal system showed cartilaginous and bony fusion of the spinous processes (cases 1, 2), fusion of epiphyseal cartilages of distal humerus and proximal ulna, a poorly developed joint space, an abnormal growth plate, and weak safranin staining of the resting cartilages (cases 1, 2). To the best of our knowledge, this pattern of anomalies constitutes a previously undescribed syndrome. Prenatal diagnosis of this entity is possible by ultrasonographic studies on the basis of nonimmune fetal hydrops, a cystic hygroma at the back of the head and neck, diminished fetal activity, short and fixed limbs, and/or maternal hydramnios. Three additional cases (cases 4-6) are also presented to show a possible heterogeneity of this syndrome.

Abnormalities, Multiple↗
PubMed1984

Apparent allelism of the Hurler, Scheie, and Hurler/Scheie syndromes.

The Hurler, Scheie, and Hurler/Scheie syndromes are clinically distinct disorders due to inherited deficiencies of lysosomal alpha-iduronidase activity. The genetic relationship of these disorders was investigated by complementation analysis using a heterokaryon enrichment procedure. Fusions between fibroblasts derived from Hurler, Scheie, or Hurler/Scheie subjects in any combination resulted in no detectable correction of alpha-iduronidase activity, indicating that they form a single complementation group. Control fusions between these fibroblasts and mucolipidosis II or III cells, which are also alpha-iduronidase deficient due to an enzyme processing defect, resulted in restoration of up to 57% of normal alpha-iduronidase activity. These results also suggest allelism of the Hurler, Scheie, and Hurler/Scheie syndromes. However, the genetic make-up of the Hurler/Scheie syndrome was not resolved.

Child↗
PubMed1984

The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.

We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.

Abnormalities, Multiple↗
PubMed1984

Sensorineural deafness in the FG syndrome: report on four new cases.

We report on four new cases of FG syndrome with typical manifestations of this X-linked inherited condition and note a hitherto undescribed sign, sensorineural deafness. The association between sensorineural deafness and imperforate anus is likely to represent more than a chance occurrence, given its presence also in the Townes-Brocks syndrome.

Abnormalities, Multiple↗
PubMed1984

Geleophysic dysplasia.

On the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good-natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.

Abnormalities, Multiple↗