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The Opitz trigonocephaly syndrome. A case report.
This is the third report, to our knowledge, of a baby with Opitz trigonocephaly syndrome of multiple congenital abnormalities. The unusual facial and palatal abnormalities are diagnostic.
The reasons for failure in parathyroid operations.
Primary hyperparathyroidism occurs in about 1 in every 700 individuals. We analyzed our experience with 81 patients with persistent or recurrent hyperparathyroidism who were treated at the University of California, San Francisco, and the Veterans Administration Medical Center, San Francisco, from January 1979 through September 1988. In the 89 reoperations performed, the following six reasons or combination of reasons were responsible for the failed initial operation: (1) in 50 patients, there were multiple abnormal glands (30 hyperplastic and 20 second adenoma); (2) in 40 patients, the tumor was located in an ectopic position (22 mediastinal, 9 deep-seated cervical, 7 intrathyroidal, and 2 undescended); (3) in 17 patients, there were supernumerary parathyroid glands; (4) in 12 patients, the abnormal parathyroid glands were found in normal locations and the tumors were missed because of surgeon inexperience; (5) in 4 patients, failure was due to metastatic parathyroid cancer; and (6) in 4 patients, failure was due to errors on frozen section examinations. Preoperative localization studies usually identified the abnormal parathyroid tumor(s) prior to reoperations and were helpful in these patients. Knowledge of the reasons for failed parathyroid operations and the usual and unusual sites where parathyroid tumors are situated as well as a complete exploration should decrease the frequency of failed parathyroid operations. Localization studies are helpful for identifying these often elusive tumors.
Reoperation for persistent or recurrent primary hyperparathyroidism.
OBJECTIVE: To analyze the causes and outcomes of reoperation for persistent or recurrent primary hyperparathyroidism. DATA SOURCES: Medical records of 102 patients with persistent or recurrent primary hyperparathyroidism who underwent reoperation by 1 surgeon between 1985 and 1995. STUDY SELECTION: Only patients with persistent or recurrent primary hyperparathyroidism were selected; patients with secondary hyperparathyroidism, parathyroid cancer, familial hyperparathyroidism, and previous thyroid operations were omitted. DATA EXTRACTION: Performed by a single unblinded researcher. DATA SYNTHESIS: Reasons for failed parathyroid operations included tumor in ectopic position (53%), incomplete resection of multiple abnormal glands (37%), adenoma in normal position missed during previous surgery (7%), and regrowth of previously resected tumor (3%). Of the ectopic glands, 28% were paraesophageal, 26% in the mediastinum (nonthymic), 24% intrathymic, 11% intrathyroidal, 9% in the carotid sheath, and 2% in a high cervical position. Eighty-three percent of ectopic glands were accessible via cervical incision. The success rate of reoperations was 95%. One patient (1%) became permanently hypocalcemic after reoperation; 1 patient (1%) suffered permanent unilateral vocal cord paralysis. The sensitivities of preoperative localization studies were as follows: technetium Tc 99m sestamibi scan, 77%; magnetic resonance imaging, 77%; selective venous catheterization for intact parathyroid hormone, 77%; thallium-technetium scan, 68%; ultrasonography, 57%; and computed tomography, 42%. CONCLUSIONS: Repeated parathyroidectomy can be avoided in more than 95% of patients if an experienced surgeon performs bilateral cervical exploration during the initial parathyroid operation. For patients with persistent or recurrent primary hyperparathyroidism, preoperative localization studies and a focused surgical approach can result in a 95% success rate with minimum complications.
Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)].
We report on a terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-->qter)] in a female newborn infant who died 45 hours after delivery and had multiple congenital abnormalities including bilateral anophthalmia, congenital heart disease, and abnormal genitalia. The findings are compared to those of four previously reported cases with terminal del (3q).
Del(10)(q22.3q24.1) associated with juvenile polyposis.
Juvenile polyps are the most frequent gastrointestinal polyps with a malignant potential for which the genetic basis is unknown. Juvenile polyps, with a normal epithelium but hypertrophic lamina propria, are histologically quite distinct from adenomatous polyps which have dysplastic changes in epithelial nuclei. Furthermore, the adenomatous polyposis coli (APC) gene on Chr 5, mutated somatically in adenomatous polyps and mutated in the germline of patients with familial adenomatous polyposis, is not linked to hereditary juvenile polyposis. We provide the first report indicating that a tumor suppressor gene associated with juvenile polyposis may be located at 10q22.3q24.1. Cytogenetic studies of a patient with juvenile polyposis and multiple congenital abnormalities of the head, extremities, and abdomen revealed a de novo interstitial deletion of Chr 10 as the only defect, del(10)(10q22.3q24.1).
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndrome.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities. Biochemically, the disorder is caused by deficient activity of 7-dehydrocholesterol reductase, which catalyzes the reduction of the Delta7 double bond of 7-dehydrocholesterol to produce cholesterol. Recently, mutations in the gene encoding 7-dehydrocholesterol reductase (7DHCR) were found to cause SLOS. We report the first molecular characterization of an Italian SLOS patient. Interestingly, his paternal 7DHCR allele, of Arab origin, harbored a novel P329L mutation which in combination with a maternal splice-site (IVS8-1 G>C) mutation resulted in a relatively milder phenotype.
Smith-Lemli-Opitz syndrome presenting with persisting nuchal oedema and non-immune hydrops.
Smith-Lemli-Opitz syndrome (SLO) is a recognized clinical entity with distinctive anomalies. Recently it has been shown that a specific defect in cholesterol metabolism, 7-dehydroxycholesterol reductase deficiency, causes the multiple abnormalities seen in SLO. There have been two reports of first-trimester nuchal translucency associated with SLO. We report two cases of SLO in the third trimester, one with persisting nuchal oedema and the other presenting with hydrops. These findings may explain a proportion of the perinatal loss associated with this syndrome.
Apparent confined placental mosaicism of trisomy 16 and multiple fetal anomalies: case report.
Trisomy 16 is frequently found confined to the placenta (confined placental mosaicism (CPM)), with a structurally normal fetus. In some cases of trisomy 16, the fetus has uniparental disomy for chromosome 16 (UPD16) which is associated with intrauterine growth restriction (IUGR) and fetal anomalies. We report a case of apparent confined placental mosaicism for trisomy 16, using standard cytogenetic techniques, but with multiple fetal abnormalities including congenital diaphragmatic hernia in which there was no evidence of UPD in the disomic tissues examined. Subsequent examination of fetal tissues using fluorescent in situ hybridization (FISH) demonstrated low levels of mosaicism for trisomy 16 in all the tissues examined. The use of FISH permits identification of mosaicism which conventional techniques may not identify.
Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.
A nine-month-old boy, with functional disomy for Xq26-qter and multiple congenital abnormalities, is reported. The boy had severe pre- and postnatal growth retardation, profound developmental delay, hypotonia, microcephaly, agenesis of the corpus callosum, dysmorphic facial features, cryptorchidism, and left multidysplastic kidney. He developed feeding difficulties and infantile spasms. G-banding analysis of his chromosomes showed additional material on the short arm of chromosome 21. His parents refused to submit to chromosome analysis. Analysis with chromosome microdissection followed by reverse and forward chromosome painting indicated his karyotype as 46,XY,der(21)t(X;21)(q26;p11.2). This is the first description of pure functional disomy for Xq26-qter due to an unbalanced X-autosome translocation.
A unique malignant T-cell lymphoproliferative disorder with neutropenia simulating hairy cell leukemia.
The association of neutropenia with an indolent chronic T-suppressor cell lymphoproliferative disorder (LPD) has been well documented. The morphologic features and course suggest that this is a benign disorder. The authors studied a 58-year-old man with a chronic T-cell LPD, splenomegaly, and neutropenia. Chromosomal analysis revealed multiple abnormalities which progressively increased in number as the marrow lymphocytosis became more prominent. Subsequently he developed small bowel infiltration. A splenectomy resulted in only brief improvement in the neutropenia. Immunopathologic examination of the spleen was consistent with a well-differentiated lymphocytic lymphoma of a mature peripheral T-cell type without subset specific markers. Granulocyte-monocyte colony (CFU-GM) formation from the patient's marrow was normal and not augmented by T-cell depletion. Neither the patient's splenic T-cells nor serum suppressed granulopoiesis. In contrast to previous T-LPD with neutropenia whose malignant nature has been questioned, the clinical, cytogenetic, and pathologic features and course in this case indicate a malignant lymphoid process which was effectively treated with chemotherapy. Although the histologic pattern of red pulp involvement simulated hairy cell leukemia, that diagnosis was excluded by this patient's clinical, morphologic, and cytochemical features.
Embryonal malignancies of unknown primary origin in children.
BACKGROUND: Little is known about embryonal malignancies of unknown primary origin in children. All such cases referred to a pediatric cancer center over a 30-year period were reviewed to delineate their clinical and prognostic features and to develop recommendations for evaluation and therapy. METHODS: Seventeen patients with embryonal malignancies of unknown primary origin were identified by reviewing the institutional solid tumor database. The medical records, imaging studies, laboratory records, and pathology reports for each patient were reviewed and tabulated. RESULTS: Pathology review confirmed the original histologic diagnosis in 15 of the cases. Final diagnoses after review were rhabdomyosarcoma (n = 9), neuroblastoma (n = 7), and Ewing's sarcoma (n = 1). At initial evaluation, an extensive array of radiologic studies revealed multiple abnormalities in 16 cases. Bone marrow sampling and urinary catecholamine analysis were valuable diagnostic tools. A primary site of origin was identified in five patients: by interval assessments during treatment in two cases, and at autopsy in three. Although the median survival was only 6 months, 3 patients are alive at 12, 15 and 17 years after diagnosis. CONCLUSIONS: An exhaustive search for a primary lesion appears unwarranted in children with disseminated embryonal malignancies. Tumor sampling should be adequate for the pathologic work-up to determine the definitive diagnosis. Although the chances of cure are slight, tumor specific therapy may improve the interval of disease control, the quality of life, and the possibility of long term survival.
Cancer genetics.
Cancer is a genetic disease of somatic cells. Tumor karyotypes are rarely normal, and most show multiple abnormalities of both number and structure. The first direct evidence for this concept of cancer came from studies of tumor-specific translocations in leukemias and lymphomas, revealing the importance of oncogenes and the regulation of gene transcription in cancer. A second major source of information about human cancer genes is hereditary cancer. Genetic predisposition of the autosomal dominant type imposes a high relative risk for one or more kinds of cancer. In the past decade or so, more than 30 mutant genes for such hereditary cancers have been cloned. Penetrance depends upon additional, somatic, mutations. A few of the genes are oncogenes or DNA repair genes, but most are tumor suppressor genes. Some tumor suppressors regulate transcription, while others operate in signal transduction pathways that are involved in regulating processes of cell birth, differentiation, and death. The knowledge gained is stimulating new approaches to the treatment and prevention of cancer.
An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a female.
We report on a female infant with short stature and mesomelic limb shortening, multiple congenital abnormalities, developmental delay, and Rieger anomaly. Cytogenetic analysis revealed a complex rearrangement of the sex chromosomes in this patient. In addition to a normal X chromosome, a derivative Y [der(Y)] chromosome composed of X and Y material and a ring X [r(X)] were present. Consistent with the fact that this infant had normal female genitalia, the SRY gene was not detected in the Y chromosome portion of the der(Y). By fluorescence in situ hybridization (FISH), XIST was present on the normal X and the r(X), but not on the der(Y). The normal X was late replicating (inactive) and the r(X) early replicating (active) in all lymphocyte metaphases examined. As the X chromosome material on the der(Y) cannot be inactivated, the unusual skew of activation toward the r(X) presumably resulted in the least amount of functional disomy of X-linked genes in the cells of this patient. Deletion of one copy of the SHOX gene was detected in this patient. Haploinsufficiency of this gene is known to be correlated with short stature and mesomelic limb shortening.
Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome?
We describe a 14-month-old female infant with absence of corpus callosum, atrophy of optic nerve, peculiar face, complex polydactyly, multiple joint abnormalities, and femoral shortness. The similarities to and differences from previously reported cases of this kind suggest that our patient has a new type of acrocallosal syndrome.
Additive congenital anomaly patterns.
A family study was conducted on 1,038 index patients with unidentified multiple congenital abnormality (MCA) patterns in the population-based material of the Hungarian Congenital Malformation Registry (HCMR). Congenital abnormalities (CAs) were detected in 5.1% of fathers and in 4.2% of mothers, respectively. Two fathers had an MCA pattern similar to that in their affected child. One component CA of multimalformed index children occurred in 55.1% of fathers and 52.3% of mothers. Thus, in more than half of affected parent-child pairs, there may be a causal connection between the observed anomalies. The combination of CAs of different parental origin in index patients is called "additive CA pattern." This group of patients may represent about 5% of unidentified MCA patterns and about 50% of affected parent-child pairs.
Double chromosome anomaly: interstitial deletion 5q and reciprocal translocation (1;11)(p22;q21).
We describe a girl with multiple congenital abnormalities and developmental delay; her karyotype showed an apparently balanced translocation between the short arm of chromosome 1 and the long arm of chromosome 11, and an interstitial deletion of the long arm of chromosome 5 (q15q31). The clinical findings are compared with those described in other cases of 5q deletion, and the origin of the chromosome rearrangements is briefly discussed.
Syndrome of a craniofacial dysostosis, limb malformation, and omphalocele.
We describe an infant with a unique combination of a severe craniofacial dysostosis and a very distinctive facies, severe limb defects, a thoracic deformity, and an omphalocele as the major anomalies. We propose that this represents a "new" syndrome of multiple congenital abnormalities.