John M Opitz
Affiliation: University of Utah
- Scott Rogers on dinosaur behavior, in: the annals of morphologyJohn M Opitz
Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 134:357-8. 2005
- The RSH/"Smith-Lemli-Opitz" syndrome: historical footnoteJohn M Opitz
American Journal of Medical Genetics, University of Utah, 419 Wakara Way, Ste 213, Salt Lake City, UT 84108, USA
Am J Med Genet C Semin Med Genet 160:242-9. 2012..The discovery of the role of cholesterol in the synthesis of the morphogen sonic hedgehog has greatly advanced our understanding of mammalian development...
- Opitz trigonocephaly syndrome presenting with sudden unexplained death in the operating room: a case reportLaura Travan
Neonatal Intensive Care Unit, Institute for Maternal and Child Health Burlo Garofolo, Via dell Istria 65 1, 34100, Trieste, Italy
J Med Case Reports 5:222. 2011..OTCS is associated with a high mortality rate...
- Goethe's bone and the beginnings of morphologyJohn M Opitz
Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, University of Utah, Salt Lake City 84132, USA
Am J Med Genet A 126:1-8. 2004....
- Invited editorial comment: further reflections on gastroschisisJohn M Opitz
School of Medicine, University of Utah, 50 N, Mario Capecchi Drive, Salt Lake City, UT, USA
Am J Med Genet C Semin Med Genet 148:192-8. 2008
- A chicken consultation with ramificationsJohn M Opitz
Pediatrics Medical Genetics, Human Genetics, Pathology, Obstetrics and Gynecology, University of Utah, Salt Lake City, Utah, USA
Am J Med Genet A 134:117-28. 2005....
- Development: clinical and evolutionary considerationsJohn M Opitz
Department of Pediatrics Division of Medical Genetics, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
Am J Med Genet A 143:2853-61. 2007..It is inconceivable how such an understanding can allow anyone to deny the reality of evolution and its implications for the antiquity of the earth, and its biosphere and the vulnerability of all species, humans included, for extinction...
- Invited comment: gastroschisisJohn M Opitz
Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, Pathology, School of Medicine, University of Utah, Salt Lake City, UT 84132, USA
Am J Med Genet A 143:635-8. 2007
- Mortality and pathological findings in C (Opitz trigonocephaly) syndromeJohn M Opitz
Pediatrics Medical Genetics, Pathology, Obstetrics and Gynecology, and Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA
Fetal Pediatr Pathol 25:211-31. 2006..g., mice) to further understanding of pathogenesis...
- Colophon: vere dignum et justum est ... an unedited MSJohn M Opitz
Pediatrics Medical Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA
Am J Med Genet A 140:2150-4. 2006
- The FG syndromes (Online Mendelian Inheritance in Man 305450): perspective in 2008John M Opitz
University of Utah, Salt Lake City, UT 84132, USA
Adv Pediatr 55:123-70. 2008..As they say in baseball, it is time at long last for the professionals "to step up to the plate."..
- Comments on biological asymmetryJ M Opitz
Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, University of Utah, Salt Lake City, 84132, USA
Am J Med Genet 101:359-69. 2001..In this paper we will attempt to enumerate the causal forms and bases of biological asymmetry...
- Meckel on developmental pathologyJohn M Opitz
Pediatrics Medical Genetics, Human Genetics, Obstetrics and Gynecology, and Pathology, University of Utah, Salt Lake City, Utah 84132, USA
Am J Med Genet A 140:115-28. 2006..In that case, Darwin and Haeckel might have even had the courtesy of a tip-of-the-hat in Meckel's direction...
- Cholesterol and development: the RSH ("Smith-Lemli-Opitz") syndrome and related conditionsJohn M Opitz
Pediatrics Division of Medical Genetics, University of Utah, Salt Lake City, 84132, USA
Pediatr Pathol Mol Med 21:153-81. 2002..Thus, developmental pathology plays an integral, vital role in preventive medicine...
- Prenatal death in Fraser syndromeJessica M Comstock
Department of Pathology, University of Utah, Salt Lake City, 84132, USA
Fetal Pediatr Pathol 24:223-38. 2005..Older (mostly German) publications, some dating to the 19th century, provide a fascinating historical insight into the process of syndrome delineation...
- Genitourinary anomalies of pediatric FG syndromeJames F Smith
Division of Urology, University of Utah, Salt Lake City, Utah, USA
J Urol 178:656-9. 2007..This report may help elucidate the pathogenic mechanisms responsible for the disorder. Also, we provide a simple checklist for urologists that will help guide referrals for genetics and other specialty consultations...
- Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?Enid Gilbert-Barness
Department of Pathology, University of South Florida School of Medicine and Tampa General Hospital, Davis Island, Florida, USA
Fetal Pediatr Pathol 24:331-45. 2005..There also is some overlap with lumbosacral agenesis but different from the autosomal recessive entities Jarcho-Levin syndrome or spondylocostal dysostosis. To date, no associated heart defects have been noted...
- Congenital perineal hernia in a fetus with trisomy 18Thora S Steffensen
Department of Pathology, University of South Florida and Tampa General Hospital, Tampa, Florida 33606, USA
Fetal Pediatr Pathol 28:95-9. 2009..To our knowledge there are no reported cases of perineal hernia presenting antenatally nor are there reported cases of perineal hernia associated with trisomy 18...
- Cervical ribs are more prevalent in stillborn fetuses than in live-born infants and are strongly associated with fetal aneuploidyLarissa V Furtado
Department of Pathology, University of Utah Health Sciences Center, 50 North Medical Drive, Salt Lake City, UT, 84112 USA
Pediatr Dev Pathol 14:431-7. 2011..Our findings support the hypothesis that cervical ribs are markers for disadvantageous developmental events occurring during blastogenesis and have been subject to strong negative selection during evolution...
- Premature closure of the foramen ovale secondary to congenital aortic valvular stenosis in a stillbornLarissa V Furtado
University of Utah Health Sciences Center, Department of Pathology, Salt Lake City, Utah 84112, USA
Fetal Pediatr Pathol 31:43-9. 2012..To the best of our knowledge, this is only the second report on this rare constellation of complex congenital cardiac defects...
- Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicismJessica M Comstock
Division of Pediatric Pathology, Department of Pathology, University of Utah, Utah, USA
Am J Med Genet A 152:1822-4. 2010..Gly768Asp) in exon 33 of the COL2A1 gene. Although this mutation could not be proven by molecular studies in the first infant, identical findings in two affected pregnancies support germline mosaicism as the cause of ACG2 in this family...
- Unilateral sclerocornea and tracheal stenosis: unusual findings in a patient with Goldenhar anomalyLarissa V Furtado
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84112, USA
Fetal Pediatr Pathol 30:397-404. 2011..We report the pathologic findings in a 5-month-old boy with GA, tracheal stenosis, and left unilateral sclerocornea. To the best of our knowledge this is the first description of sclerocornea in a patient with GA...
- The syndromes of Sotos and Weaver: reports and reviewJ M Opitz
Department of Pediatrics, University of Utah, Salt Lake City, USA
Am J Med Genet 79:294-304. 1998..Nevertheless, the hypothesis of locus heterogeneity is testable; at the moment we are inclined to favor the hypothesis of allele heterogeneity. An international effort is required to map, isolate, and sequence the causal gene or genes...
- RSH (so-called Smith-Lemli-Opitz) syndromeJ M Opitz
2100 Primary Children s Medical Center, University of Utah, Salt Lake City 84112 1100, USA
Curr Opin Pediatr 11:353-62. 1999..Many other defects in this pathway remain to be discovered...
- Molecular inversion probe array for the genetic evaluation of stillbirth using formalin-fixed, paraffin-embedded tissueLeslie R Rowe
Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, UT 84108 1221, USA
J Mol Diagn 15:466-72. 2013..This study highlights the benefits of using MIP array analysis for identification of genomic alterations in FFPE stillbirth autopsy tissue. ..
- RE: Correspondence from Wieczorek & Gillessen-Kaesbach and Hing & ParisiJohn M Opitz
University of Utah, Salt Lake City, Utah
Am J Med Genet A 140:2385. 2006
- Splenogonadal fusion-limb defect "syndrome" and associated malformationsFiona McPherson
Department of Pathology, Tampa General Hospital, Tampa, Florida 33601, USA
Am J Med Genet A 120:518-22. 2003..We consider SGFLD a developmental field defect that originates during blastogenesis. Although the cause is unknown, the earlier its action, the more severe the involvement resulting in SGFLD; later action may result only in SGF...
- Apparent encephalocele in twin fetus papyraceus with twin-reversal arterial perfusionEnid Gilbert-Barness
Department of Pathology, University of South Florida, Tampa General Hospital, Tampa, Florida 33601, USA
Am J Med Genet A 116:352-5. 2003..All organs were hypoplastic and autolyzed. The hypoplastic heart had three chambers. The placenta was monochorionic and monoamniotic; barium injection showed a twin-reversal arterial perfusion and entanglement of the umbilical cords...
- Documentation of anomalies not previously described in Fryns syndromeSonya Rae Arnold
Department of Pathology, University of South Florida, and Tampa General Hospital, 33601, USA
Am J Med Genet A 116:179-82; discussion 183. 2003..These defects add to our knowledge of the phenotype of Fryns syndrome...
- Probable second fetus with Marles-Chudley syndrome: cardiac calcifications with ulnar deficiency and absent/hypoplastic thumbsDavid A Wada
Department of Pathology, University of Utah, Salt Lake City, Utah 84132, USA
Fetal Pediatr Pathol 23:159-70. 2004..This suggests that there exists a gene for autosomal recessive Marles-Chudley syndrome in the Poynesian population with pleiotropic effects on upper limb development and cardiac histogenesis...
- A deletion 13q34/duplication 14q32.2-14q32.33 syndrome diagnosed 50 years after neonatal presentation as infantile hypercalcemiaPhilip D Pallister
Department of Pediatrics and Pathology, ARUP Laboratories, University of Utah, Salt Lake City, Utah, USA
Am J Med Genet A 155:833-9. 2011..This "case" does underscore the importance of re-studying previously obscure but evidently genetic conditions, of long-term follow-up and documentation of natural history, and of providing, at last, a causal explanation to the family...
- Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in MZ twins due to a homozygous fibulin-4 mutationLance K Erickson
Department of Pathology, Primary Children s Medical Center and the University of Utah School of Medicine, Salt Lake City, UT, USA
Pediatr Dev Pathol 15:137-41. 2012....
- Fetus-in-fetu form of monozygotic twinning with retroperitoneal teratomaEnid Gilbert-Barness
Department of Pathology, University of South Florida, and Tampa General Hospital, 33601, USA
Am J Med Genet A 120:406-12. 2003..We report the third known instance of endoparasitic twinning associated with a benign teratoma at age 1. The host, twin, and teratoma were monozygotic by DNA analysis...
- Chiari I malformation in patients with FG syndromeOren N Gottfried
Department of Neurosurgery, University of Utah, USA
J Neurosurg 103:148-55. 2005..On magnetic resonance (MR) imaging, some patients have evidence of tonsillar ectopia. The authors describe the incidence of Chiari I malformation in patients with FGS and attempt to determine the optimal treatment of these patients...
- Defects of blastogenesisJohn M Opitz
University of Utah, 100 N Medical Drive, Suite 2100, Salt Lake City, UT 84113, USA
Am J Med Genet 115:269-86. 2002..If cause is unknown, the presumption of pleiotropy is less certain, and the fetus/infant may be said to have an "association" with low empiric recurrence risk...
- Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope
Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, 84112, USA
Am J Hum Genet 89:28-43. 2011..Here we provide evidence of a human genetic disorder resulting from direct impairment of N-terminal acetylation, one of the most common protein modifications in humans...
- CFC syndromeGiovanni Neri
Am J Med Genet A 116:410. 2003
- Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hairKlaus W Kjaer
Wilhelm Johannsen Centre for Functional Genome Research, The Panum Institute Building 24 4, Department of Medical Genetics, University of Copenhagen, Blegdamsvej 3b, 2200 Copenhagen N, Denmark
Am J Med Genet A 127:152-7. 2004..We provide an easy method for mutation detection by use of the restriction enzyme Nde1 and discuss possible pathogenetic mechanisms, arguing that loss of function cannot be excluded. This is the second article reporting ODDD mutations...
- FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]Sabine Dessay
Service de Genetique, CHU Bretonneau, Tours, France
Am J Med Genet 112:6-11. 2002..3. In this region, two potential candidate genes, VCX-A and PRKX, were excluded by sequence analysis of the coding region in patients of the two reported FG families. The search for new candidate genes is in progress...
- Two brothers with 22q13 deletion syndrome and features suggestive of the Clark-Baraitser syndromeElisabetta Tabolacci
Institute of Medical Genetics, Catholic University, Rome, Italy
Clin Dysmorphol 14:127-32. 2005..Thus, we describe the first familial case of 22q13 deletion and recommend that patients with a phenotype suggestive of the so-called Clark-Baraitser syndrome be tested for submicroscopic 22qter deletion...
- A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndromeHiba Risheg
Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
Nat Genet 39:451-3. 2007....
- Nuchal cystic hygroma in five fetuses from 1819 to 1826 in the Meckel-anatomical collections at the University of Halle, GermanyLuminita Göbbel
Department of Anatomy and Cell Biology, Martin Luther University Halle Wittenberg, Halle Saale, Germany
Am J Med Genet A 143:119-28. 2007..PCR-based sex determination tests on ancient DNA were used to determine the fetal gonosomal constitution. It is likely that the Meckel specimens are among the oldest fetuses in which Ullrich-Turner "phenotype" has been diagnosed...
- A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndromeMarcella Zollino
Istituto di Genetica Medica, Facolta di Medicina A Gemelli, UCSC, Roma, Italy
Eur J Hum Genet 12:797-804. 2004..It can be inferred that a double, cryptic chromosome imbalance is an important factor for phenotypic variability in WHS. It acts either by masking the actual deletion size or by doubling a quantitative change of the genome...
- An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndromeFernanda Sarquis Jehee
Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
Am J Med Genet A 139:221-6. 2005..We also discuss the involvement of other potential genes within the duplicated segment and its relationship with clinical symptoms of our patient, as well as the laboratory abnormalities found in his mother, a carrier of the duplication...
- The Helena syndromesGiovanni Neri
Istituto di Genetica Medica, Facolta di Medicina A Gemelli, Universita Cattolica del S Cuore, Roma, Italy
Am J Med Genet A 140:2007-12. 2006..These three conditions are briefly revisited with a critical perspective, made possible by the elapse of 20 years, since the time when the author became acquainted with them...
- Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxiaMaria Cristina Digilio
Medical Genetics, Bambino Gesu Hospital, Rome, Italy
Birth Defects Res A Clin Mol Teratol 67:149-53. 2003..CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated...
- HOXD13 polyalanine tract expansion in classical synpolydactyly type VordingborgKlaus Wilbrandt Kjaer
Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark
Am J Med Genet 110:116-21. 2002..The phenotypic spectrum in mutation carriers ranged from severe to inapparent bone malformations. In the latter case, only dermatoglyphics revealed the genetic status...
- Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARGKlaus W Kjaer
Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Panum Institute 24 4, Blegdamsvej 3, 2200 Copenhagen N, Denmark
Am J Med Genet A 137:148-52. 2005..However, it was located 83 bp from exon 2, suggesting it is a rare polymorphism which does not account for the phenotype. No other mutations were found. This suggests that another yet unknown gene is responsible for the condition...
- Restrictive dermopathy: report and reviewPawini Khanna
Pediatric Pathology, University of South Florida College of Medicine, Tampa, Florida, USA
Fetal Pediatr Pathol 27:105-18. 2008..The exact pathogenetic mechanisms are still not known. Fewer than 50 cases have been reported. We report on a case of restrictive dermopathy and discuss the differential diagnoses...
- XK-aprosencephaly and related entitiesG Renzetti
Department of Pediatrics, University of L Aquila, L Aquila, Italy
Am J Med Genet A 138:401-10. 2005..No evidence of an encephaloclastic process was found in the autopsied Utah infant...
- A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansionsKlaus W Kjaer
Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research, University of Copenhagen, Denmark
Am J Med Genet A 138:328-39. 2005..Thus, our data have added evidence to the phenotype-genotype correlation previously reported, which was further extended to include lesser involvement of bones in ray 1, 2, and 5...
- Prenatal death in Smith-Lemli-Opitz/RSH syndromeAngelica R Putnam
Am J Med Genet A 138:61-5. 2005
- Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutationsJoyce So
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 132:1-7. 2005..This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports...
- A case of Kabuki (Niikawa-Kuroki) syndrome associated with manifestations resembling C-trigonocephaly syndromeGrace David
Department of Clinical Genetics, The Children s Hospital, Westmead, Australia
Am J Med Genet A 130:389-92. 2004..However, as he grew older, his facial profile changed to that typical of Kabuki syndrome...
- Perrault syndrome: evidence for progressive nervous system involvementAgata Fiumara
Pediatric Neurology, Department of Pediatrics, University of Catania, Italy
Am J Med Genet A 128:246-9. 2004....
- Pseudoaminopterin syndrome and trisomy 9David A Stevenson
Am J Med Genet A 128:217-8. 2004
- Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndromeTadashi Kaname
Department of Medical Genetics, University of the Ryukyus Faculty of Medicine, Nishihara, Okinawa, Japan
Am J Hum Genet 81:835-41. 2007..Cells with mutated CD96 protein (T280M) lost adhesion and growth activities in vitro. These findings indicate that CD96 mutations may cause a form of the C syndrome by interfering with cell adhesion and growth...
- Mental retardation, Robin sequence, and brachydactyly: further confirmation of a new syndromeFiorella Gurrieri
Istituto di Genetica Medica, Universita Cattolica del S Cuore, Facolta di Medicina, Largo Francesco Vito 1, 00168 Rome, Italy
Am J Med Genet A 126:204-7. 2004..This new observation supports the existence of a new syndrome and expands the phenotypic spectrum of the condition...
- X-linked congenital ataxia: a new locus maps to Xq25-q27.1Ginevra Zanni
Institut Cochin, Universite Paris Descartes, CNRS UMR 8104 Paris, France
Am J Med Genet A 146:593-600. 2008..2000]; however, the newly identified locus does not overlap with the one defined previously, indicating that there are at least two genes responsible for this rare form of X-linked congenital cerebellar ataxia with normal intelligence...