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J M Opitz

Publications and source records attributed to J M Opitz.

At least 127 records · Page 7Linked to original sources
PubMed1987

The developmental field concept in pediatric pathology--especially with respect to fibular a/hypoplasia and the DiGeorge anomaly.

Identical anomalies produced by different causes such as aneuploidy, gene mutation, teratogenic chemicals, and certain surgical procedures are a clear indication that embryonic primordia respond as units in the production of developmental anomalies of anatomic structure. Hence, they must also act as units during normal ontogeny. The presence of identical malformations in different mammalian species identifies developmental and anatomic homology by virtue of descent from a common ancestor. These dys- and orthomorphogenetically reactive units are the equivalents of the classic experimental embryologist's epimorphic fields, which are those units of the embryo in which the development of complex structures appropriate to the species is determined and controlled in a spatially coordinated, temporarily synchronous, and epimorphically hierarchical manner that expresses both species-nonspecific (that is, phylogenetic) and species-specific genetically coded developmental information. Thus, it is as important for pathologists as it is for clinical geneticists to steep themselves in the art and science of phenotype analysis and to be able to do all of those studies, including anthropometry, dermatoglyphics, and growth analysis, that are required to arrive at inferences of cause and pathogenesis from the phenotype. There is probably one other incentive besides the ethical and intellectual ones to do this and to do it as well as possible, namely, the medico-legal consequences. If pathologists fail to illuminate the causal genesis of a given case to aid in preventing recurrence, then, in short order, they might be held equally as liable as clinicians for missing high recurrence risk genetic diagnoses. These depressing considerations aside, it is important to close on a positive note. As at the outset, we want to emphasize once more that, without question, this is the most exciting time to be working in the field of developmental pathology. In this specialty a marriage is occurring of several types of investigational methods, ranging from humble morphologic studies to metabolic analysis to the most sophisticated designs of molecular biology, to produce new interdisciplinary approaches to the solution of the oldest intellectual problem confronting medicine--how does the "fabric of the human body" (in the immortal words of Vesalius) come about?(ABSTRACT TRUNCATED AT 250 WORDS)

Aneuploidy↗
PubMed1986

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.

Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio-Facio-Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices. The hair was usually sparse and friable. Skin changes varied from patchy hyperkeratosis to a severe generalized ichthyosis-like condition. All cases were sporadic in occurrence, there was no family history of consanguinity, and chromosomes were normal. Although presumed to be genetic, the cause of the CFC syndrome remains unknown.

Abnormalities, Multiple↗
PubMed1986

The DiGeorge anomaly as a developmental field defect.

The DiGeorge "syndrome" is a characteristic malformation pattern involving craniofacial, cardiac, thymic, and parathyroid structures. Evidence is accumulating that the DiGeorge "syndrome" is actually not a syndrome, but a polytopic developmental field defect. We present evidence of causal heterogeneity of the DiGeorge anomaly. This heterogeneity will be discussed in the light of recent findings that indicate that the dysmorphogenetically reactive unit responsible for the phenotype of the DiGeorge anomaly is a population of cephalic neural crest cells.

DiGeorge Syndrome↗
PubMed1986

A new autosomal dominant acrofacial dysostosis syndrome.

We report on a family in which a previously undescribed acrofacial dysostosis syndrome is segregating as an autosomal dominant trait. Craniofacial manifestations are those of mild mandibulofacial dysostosis and are quite constant among affected relatives. The acral abnormalities are quite variable, affecting predominantly the radial ray. Variability extends from thumb duplication in one patient to mild hypoplasia of the first metacarpal and first proximal phalanx in most affected individuals. Mandibulofacial dysostosis is a causally nonspecific malformation and as such represents an apparently monotopic developmental field defect. Its occurrence with acral anomalies in several conditions of different cause represents a polytopic developmental field defect.

Adult↗
PubMed1986

Ulnar ray a/hypoplasia: evidence for a developmental field defect on the basis of genetic heterogeneity. Report of three Brazilian families.

We report on five Brazilian patients from three unrelated families with congenital anomalies of the upper limbs. Ulnar aplasia/hypoplasia was the main reason for examining these patients. Evidence for existence of an ulnar developmental field is based on genetic heterogeneity. Clinical and genetic aspects of the ulnar ray defects are discussed.

Adult↗
PubMed1986

Fibular a/hypoplasia: review and documentation of the fibular developmental field.

Fibular aplasia and/or hypoplasia is documented as a developmental field defect and the extent of the fibular developmental field is delineated. The term fibular a/hypoplasia denotes the clinical spectrum of fibular deficiency in different patients and also implies that aplasia can be present in one limb and hypoplasia in the other. Causal heterogeneity of fibular a/hypoplasia is demonstrated, thereby defining it as a developmental field defect. Most cases of fibular a/hypoplasia are isolated, sporadic events. An autosomal dominant form of isolated fibular a/hypoplasia with ankle joint anomaly is reviewed. Fibular a/hypoplasia may be part of more complex sporadic dysostoses; sporadic syndromes, an aneuploidy syndrome; several autosomal dominant and autosomal recessive conditions. Fibular a/hypoplasia is also postulated to occur as a result of disruption or teratogenic insult; in animals, fibular development can be disturbed by radiation, busulfan, and retinoic acid. Clinical data allow evaluation of the extent of the fibular developmental field of the lower limb. This appears to include the pubic portion of the pelvis, proximal femur (distal half being apparent tibial developmental territory), patella, anterior cruciate ligament, and lateral and/or axial foot rays (but "never" the hallux and almost never associated with polydactyly). The rare cases of fibuloulnar dimelia allow confirmation of the well known homology of mesomelic limb segments responsible for concordant ulnar and fibular (and radial and tibial) defect, if both upper and lower limbs are involved in a given condition. Because fibular a/hypoplasia is the commonest of the mesomelic paraxial hemimelias, is usually nonsyndromal, and in most cases is apparently nongenetic (ie, with negligible recurrence risk), we propose that in humans, as in several other tetrapods, the fibula is undergoing regressive evolution and hence is developmentally especially labile.

Female↗
PubMed1986

Two sporadic cases of amelia/phocomelia with similar phenotype: rare and unusually symmetrical form of FFU dysostosis or separate entity?

We report on two infants born at term with amelia/phocomelia and a striking appearance with facial hemangiomas and micrognathia. The upper limbs were absent and the lower limbs were extremely short, containing only a tibia; the phocomelic feet lacked one to four lateral rays. There was no known teratogen exposure and the infants were born in different regions of the USA. This may be considered an unusually symmetrical and rare form of FFU dysostosis, or a separate entity.

Ectromelia↗
PubMed1986

Severe short-limb dwarfism resembling Grebe chondrodysplasia.

A severe, nonlethal short-limb bone dysplasia is described in two unrelated patients. The disorder is characterized by a peculiar facial appearance, rib anomalies and severe shortness and distortion of individual long bones, notably the humeri, tibiae, fibulae, metapodia and phalanges with marked irregularity and asymmetry of bone changes. The condition is differentiated from other bone dysplasias with extreme limb shortness, in particular Grebe chondrodysplasia.

Achondroplasia↗