Search PubMed⌕ Search

Biomedical subjects

J M Opitz

Publications and source records attributed to J M Opitz.

At least 19 recordsLinked to original sources
PubMed2001

Megacystis-microcolon-intestinal hypoperistalsis syndrome and aganglionosis in trisomy 18.

Ultrasonography at 23 weeks of gestation documented the presence of megacystis with horseshoe kidney, microcolon, intestinal malrotation, and decreased amniotic fluid volume. After pregnancy termination, an autopsy was performed. The external phenotype was diagnostic of the trisomy 18 syndrome confirmed by chromosome examination. The fetus also had a massively distended bladder with parchment-thin wall, microcolon, intestinal malrotation but no urethral obstruction or hydronephrosis. No ganglion cells were present in the colon or bladder. This has not been mentioned in other reported cases and, therefore, suggests pathogenic heterogeneity. The megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare autosomal recessive condition of unknown pathogenesis whose genes map to 15q24. Thus, its previously undescribed presence in trisomy 18 further suggests etiologic heterogeneity.

Abnormalities, Multiple↗
PubMed2001

Meier-Gorlin syndrome: report of eight additional cases and review.

The Meier-Gorlin syndrome or ear, patella, short stature syndrome (MIM 224690) is a rare autosomal recessive disorder, characterized by the association of bilateral microtia, aplasia/hypoplasia of the patellae, and severe pre- and postnatal growth retardation. Twenty-one cases have been reported in literature thus far. Here we report on eight patients from seven families and compare them with previously described cases. One of the present cases had previously undescribed genital anomalies. There is a difference in facial characteristics between patients reported in early infancy and those described at older age; follow-up of patients is needed to substantiate this changing facial phenotype. We recommend radiographic survey of the patellae in patients at older age to investigate the weight of absent or hypoplastic patellae in the diagnosis of the syndrome.

Abnormalities, Multiple↗
PubMed2001

Comments on biological asymmetry.

Gross forms of asymmetry of biological structure, hence of development, are generally considered abnormalities of conformation with "perfect" symmetry, whether bilateral or radial, being regarded as the "ideal" form. This notion, primarily a cultural deceit of neo-Platonic origin, can easily be shown to be wrong or at best only skin-deep by any student of anatomy or surgery who finds the heart not in the midline but, most of the time on the left, liver on the right, gut coiled and disposed in a certain direction with appendix in the right lower quadrant, and so forth. Indeed, since the beginning of Amphioxus, a major effect of evolutionary developmental modification has been the abolition of the visceral symmetry which characterized this cephalochordate with introduction of a specific pattern of asymmetry called laterality determination. This embryonic process, which is beginning to yield its universal molecular basis, is probably not responsible for another type of biological phenomenon designated fluctuating asymmetry well known to anthropologists (on the basis of quantitative studies of morphometric traits of teeth, appendicular skeleton, dermatoglyphics) and well-known to the ancients who in their most beautiful Hellenistic sculptures introduced deliberate asymmetries into facial structure and expression. Photographic images constructed of 2 right or 2 left facial halves may differ to a starling degree from the authentic face (Fig. 1). The relatively random nature of fluctuating asymmetry makes it less likely to be under strong natural selection. 1 Middle panel: Frontal view of face of a normal man. Left panel: "Artificial" face constructed out of two right halves of the same face. Right panel: Face constructed out of two left halves. A careful study of the right and left panels makes it easier to appreciate the actual degree of asymmetry present in the unaltered middle image/face. However, in addition to laterality determination and fluctuating asymmetry, there are additional forms of biological asymmetry which have other biological bases such as Lyonization, somatic/clonal mosaicism, mosaic aneuploidy/polyploidy, chimaerism, and developmental "resistance" seen with especial clarity in virtually every hereditary limb malformation. In this paper we will attempt to enumerate the causal forms and bases of biological asymmetry.

Aneuploidy↗
PubMed2001

Evidence for the "midline" hypothesis in associated defects of laterality formation and multiple midline anomalies.

A male infant was liveborn at 38 weeks of gestation to a G4P1AB2, 22-year-old, mother. Polyhydramnios and multiple congenital anomalies were noted by ultrasonography; the infant died 5 min after birth. At autopsy, the infant had multiple defects of blastogenesis including midline anomalies with asplenia and abnormalities of laterality formation. The laterality defects were unusual in that they combined asplenia with hypoplastic, symmetrically unilobate lungs and bilateral hyparterial bronchi more consistent with polysplenia, abdominal situs inversus with midline stomach, symmetric liver, and left gallbladder. No intracardiac abnormalities were present, but there was azygous continuation of the inferior vena cava. Additional multiple midline defects included bronchoesophageal fistula, duodenal atresia, absence of posterior leaf of diaphragm; horseshoe adrenal gland; microcephaly; Dandy-Walker anomaly with agenesis of cerebellar vermis and occipital encephalocele; holoprosencephaly with orbital encephalocele, midline defect of the orbital plate of the skull, bilateral anophthalmia, double proboscis with bilateral choanal atresia, midline upper lip and palatal cleft; single-lobed thyroid; hypoplastic external genitalia with midline cleft of scrotum, long tapering fingers, and defects of the cranium at the sites of orbital and occipital encephaloceles. Defects of laterality frequently are associated with other complex midline anomalies, which both result from a disturbance of pattern formation during blastogenesis, i.e., the induction of the progenitor fields. The latter are the result of the establishment of upstream expression domains of growth and transcription factors and other morphogens. Many of these and other genetic systems, expressed asymmetrically around the midline, are responsible for laterality formation and are the result of upstream and subsequent downstream gene expression cascades through the expression of genes such as HOX genes; bFGF; transforming growth factor beta/activins/BMP4; WNT-1,8; and SHH.

Abnormalities, Multiple↗
PubMed2001

Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection.

A genetic theory of "multifactorial" malformations, i.e., anomalies of blastogenesis or organogenesis, involving polygenic predisposition with morphogenetic threshold effect, was developed by Sewall Wright in the 1920s and remains an essential basis of birth defects biology. Because of the phenomenon of universality, i.e., the deployment of identical inductive, or pattern-forming, upstream molecular mechanisms during the earliest stages of mammalian morphogenesis, Wright's work on guinea pig otocephaly is highly pertinent to "corresponding," i.e., homologous malformations in humans. This concept is illustrated on the hand of a human fetus in the Vilnius (Lithuania) Pathological Museum with anotocephaly, i.e., anencephaly and otocephaly so severe as to correspond to Wright's guinea pig otocephaly grade 11 or 12. The observation also supports our apology for old museums and old books as repositories for anomalies, no less important for their rarity.

Anencephaly↗
PubMed2001

Klippel-Feil anomaly with Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease changes: novel association or syndrome?

We report on a family with Klippel-Feil anomaly (KF), Sprengel anomaly, omovertebral bone, thumb abnormalities, and flexion-crease abnormalities. This combination of abnormalities does not fit into Holt-Oram syndrome, Wildervanck syndrome, oculo-auriculo-vertebral (Goldenhar) anomaly, or the VATER complex. Clinical aspects of a KF classification are discussed. The state of molecular research on KF is briefly reported. We conclude that this set of anomalies is a novel combination, probably representing pleiotropy of a single Mendelian gene.

Abnormalities, Multiple↗
PubMed2000

Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in Proteus syndrome.

Because clinical evidence suggests that Proteus syndrome may be caused by a somatic mutation during early development, resulting in mosaicism, the possible types of abnormalities and their clinical distributions are highly variable. Here, we report on an unusual patient with Proteus syndrome. Manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular, maxillary, and auditory canal hyperostoses, epidermal nevi, and mental deficiency. The limbs were proportionate, and the hands and feet were normal.

Adult↗
PubMed2000

Behold the CHILD.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed2000

Sixty years of X-linked mental retardation: a historical footnote.

X-linked mental retardation (XLMR) is a most exciting field of modern medical genetics. It made spectacular advances over the last twenty years, after the advent of molecular genetics. The discovery of the FMR1 gene unraveled the cause of the most common form of heritable mental retardation and provided the prototype of dynamic mutations. New genes continue to be mapped to the X chromosome and more and more are being cloned and characterized, clarifying the nosology of XLMR and, more importantly, adding to our understanding of the mechanisms of intellectual development, normal and abnormal. Looking back to a more or less recent past may provide clues for future discoveries.

Chromosome Mapping↗
PubMed2000

Wolf-Hirschhorn syndrome (WHS): a history in pictures.

The Wolf-Hirschhorn syndrome (WHS) is a well known chromosomal disorder, due to a deletion of distal chromosome 4p. The classical gestalt is striking and poses few diagnostic problems. However, due to the difficulty of detecting very small deletions by standard cytogenetics, diagnosis can be sometimes very difficult, particularly in older patients. In this paper we show the changes, occurring over time, in facial appearance of affected individuals, to improve insight into the evolution of the phenotype, and to increase its diagnostic potential.

Abnormalities, Multiple↗
PubMed1999

Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism.

Results of repeated peripheral blood chromosome studies were normal in a boy with intrauterine growth retardation, short stature, moderate mental retardation, and multiple minor anomalies. At age 9 years it was recognized that the swirls of pigmentation/depigmentation on his trunk, linear streaks on his limbs, and body asymmetry were suggestive of chromosomal mosaicism. Four skin biopsies were obtained under anesthesia during a dental procedure. All showed mosaicism for a normal cell line, a line with an extra chromosome 7, and a cell line with an extra small ring. In one biopsy, there was a fourth cell line with an extra chromosome 7 and the ring. Fluorescence in situ hybridization (FISH) with a chromosome 7 paint confirmed trisomy 7 and the chromosome 7 derivation of the ring. This young man's intra-uterine and postnatal growth retardation is an aneuploidy effect, whereas his asymmetry reflects a mosaicism effect that should have aroused suspicion of tissue-limited mosaicism before the development of obvious Blaschkolinear skin pigmentary dysplasia.

Abnormalities, Multiple↗
PubMed1999

Polytopic anomalies with agenesis of the lower vertebral column.

We describe clinical, pathological and radiological findings in 15 cases of sporadic and familial lower spine agenesis with additional anomalies of the axial skeleton and internal organs and speculate about the cause and pathogenesis of this malformation complex. We show that all of these findings are defects of blastogenesis, originate in the primary developmental field and/or the progenitor fields, thus representing polytopic field defects. This concept appears applicable in our cases and makes such terms such as "caudal regression syndrome" or "axial mesodermal dysplasia spectrum" redundant.

Abnormalities, Multiple↗