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Biomedical subjects

J V Higgins

Publications and source records attributed to J V Higgins.

At least 37 records · Page 2Linked to original sources
PubMed1989

Renal tubular dysgenesis: delayed onset of oligohydramnios.

Two premature sibs had Potter sequence and died of respiratory failure within the first day. Ultrasonography at 26 weeks during the earlier of the two pregnancies showed complete absence of amniotic fluid, and the urinary bladder was not visualized. Ultrasound examinations during the second pregnancy showed adequate amniotic fluid at 16 and 20 weeks, with a subsequent reduction in fluid volume. Two older sibs had also died of respiratory failure shortly after birth. Postmortem histopathologic studies showed all four sibs to have severely deficient renal tubular development. However, the presence of numerous glomeruli indicated prolific nephrogenesis. Most of the tubules in sections of cortex had the lectin-binding and immunohistochemical characteristics of collecting ducts; proximal tubules were not identified by lectin-binding. Electron-microscopic examination showed a general absence of differentiated characteristics in cortical tubular epithelium, except that rare tubules contained rudimentary proximal tubular brush borders. Three of the sibs were boys, one a girl. The three children that were studied had normal chromosomes. Two unaffected sibs are alive and well. Neither parent has any clinical evidence of renal disease. These studies support the interpretation that renal tubular dysgenesis is autosomal recessive with pleiotropy. However, the relatively late appearance of oligohydramnios makes early diagnosis difficult, even when the condition is suspected.

Amniotic Fluid↗
PubMed1988

Acute lymphoblastic leukemia with a unique rearrangement between chromosomes 4 and 11.

A case of pre-B cell acute lymphoblastic leukemia (pre-B ALL) with a dir ins(11;4)(q23;q21q31) chromosome rearrangement is presented. The patient's clinical findings and history were similar to those described for the t(4;11)(q21;q23) subgroup of childhood ALL. These findings suggest that the interfacing of the distal breakpoint at band 4q21 to the proximal breakpoint of band 11q23 represents the primary cytogenetic change observed in this subgroup of ALL.

B-Lymphocytes↗
PubMed1987

Menkes syndrome in a girl with X-autosome translocation.

We report on a girl with Menkes syndrome (M.S.) and X-2 reciprocal translocation. We conclude that the probable locus for M.S. gene is at band Xq13. This case and other previous case reports of X-linked disorders in females suggest that chromosome analysis is indicated in all females who present with manifestations of a known X-linked lethal condition in order to detect a possible associated balanced X-autosome translocation.

Brain Diseases, Metabolic↗
PubMed1986

Double minute chromosomes. A bone marrow indicator of neuroblastoma metastasis and relapse: two case reports.

Two cases of childhood neuroblastoma are presented. Case 1 was diagnosed as Stage IV with metastasis to the bone marrow. During remission, histologic studies of bone marrow aspirate and biopsy showed a normocellular marrow with no evidence of malignant cells. Concurrent cytogenetic studies of the bone marrow showed the majority of the cells to contain double minute chromosomes (DM). The chromosome findings indicated the presence of neuroblastoma cells in the marrow prior to histologic evidence of relapse. Case 2 was diagnosed as Stage I neuroblastoma with no metastasis to the bone marrow. Subsequent cytogenetic studies showed DM present in a small number of cells and a deletion of chromosome 1 (1p-) in a single cell. The chromosome findings indicated an advanced stage of malignancy which was not evident with histologic techniques. These findings suggest that cytogenetic analysis of bone marrow can be a valuable aid to the early diagnosis, prognosis, and treatment of neuroblastoma.

Bone Marrow↗
PubMed1986

Sibs with the polyasplenia developmental field defect.

We report on two brothers each with absent spleen, multiple cardiac defects, and varying degrees of situs inversus. One brother also had omphalocele; the other also had annular pancreas. These findings are consistent with a diagnosis of polyasplenia, a complex developmental field defect affecting visceral and cardiac situs, with associated spleen and heart defects. We also discuss familial cases from a developmental field perspective.

Abnormalities, Multiple↗
PubMed1986

Isolated diaphragmatic defect in three sibs.

We describe three sisters with unilateral agenesis of the diaphragm. No other anomalies were present. As a developmental field defect, diaphragmatic defect is, by definition, causally heterogeneous, and may be seen in several syndromes. Whereas most isolated diaphragmatic defects are likely multifactorially determined, monogenic forms seem to exist.

Congenital Abnormalities↗
PubMed1986

A practical metaphase marker of the inactive X chromosome.

It is paradoxical that the inactivated X is the only chromosome that can be identified in the interphase nucleus, yet in metaphase, it is indistinguishable from its genetically active homolog unless special culture and staining procedures are employed. A specific inactivation-associated fold in proximal Xq resolves that paradox. We describe here how the fold in the proximal long arm can be used as a simple and reliable marker to identify the inactivated X in G-, Q-, or R-banded preparations. Several examples are given, including localization of the inactivation center to band Xq13 or q21.1, identification of nonrandom inactivation in X-chromosome rearrangements, identification of multiple active X chromosomes in tumor cell lines, analysis of X-inactivation patterns in female carriers of the fragile site at Xq27, and comparison of X-inactivation patterns among primate species.

Chromosome Banding↗
PubMed1985

Possible causal heterogeneity in spina bifida cystica.

A study was performed to determine whether causal heterogeneity can be demonstrated among the nonsyndromal spina bifida cysticas based on the vertebral level of the defect. Two groups were compared, probands with defects at or above T 11, likely representing defects of neuralization, and probands with defects at or below T 12, likely defects of canalization. Differences between the two groups were found with respect to reproductive history and occurrence of other malformations. A high degree of concordance for the type of defect among affected sib pairs was also observed. These findings indicate that there is probably heterogeneity within the spina bifida cysticas based on the level of the defect.

Abnormalities, Multiple↗
PubMed1985

Pulmonary and diaphragmatic agenesis: report of affected sibs.

We report on two sibs with pulmonary and diaphragmatic agenesis, a rare combination of malformations. We conclude that this represents a previously undescribed autosomal recessive condition affecting either multiple developmental fields or a single complex polytopic field.

Abnormalities, Multiple↗
PubMed1985

Familial occurrence of a developmental defect of the medial nasal processes.

We report on a family in which the propositus and two distant relatives have a wide nose, broad philtrum, and short columella, a fusion defect of the medial nasal processes. This anomaly resembles potato nose [Benjamins and Stibbe, Acta Otolaryngol 11:274-284, 1927] and bifid nose [Anyane-Yeboa et al, Am J Med Genet 17:561-563, 1984], which are also fusion anomalies of the medial nasal processes. Potato nose is an autosomal dominant trait, whereas bifid nose is likely heterogeneous. In this family autosomal recessive inheritance is likely, therefore suggesting that anomalies of the medial nasal processes are causally heterogeneous and represent a developmental field defect.

Adult↗
PubMed1985

X-linked syndrome of branchial arch and other defects.

We report on two brothers and their maternal first cousin who have branchial arch defects and other anomalies. Similar physical findings in all three include microcephaly, downslanting palpebral fissures, highly arched palate, apparently lowset, protruding ears, bilateral hearing loss, slightly webbed neck, and mild short stature. In addition, two boys had cryptorchidism, and one had subvalvar pulmonic stenosis and body asymmetry. We suggest that these cousins have an X-linked syndrome of which branchial arch defects are a component. Other pleiotropic manifestations of the mutant gene include microcephaly and cryptorchidism; body asymmetry and relatively short stature may be components as well.

Abnormalities, Multiple↗
PubMed1985

X-linked midline defects.

Opitz and Gilbert [Am J Med Genet 12:443-455, 1982] have postulated that the midline may be a kind of developmental field. Although developmental field defects (primary malformations) usually occur sporadically, in some instances they can be caused by a single gene mutation. We report on a family in which the occurrence of midline defects was consistent with X-linked inheritance. Anomalies present in the family include hydrocephalus, anencephaly, cleft lip, congenital heart defect, renal agenesis, and hypospadias.

Abnormalities, Multiple↗
PubMed1985

Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?

Pena and Shokeir [J Pediatr 85:373-375. 1974] first described a syndrome characterized by multiple ankyloses, camptodactyly, facial anomalies, and pulmonary hypoplasia, which was later termed Pena-Shokeir I syndrome. Recent evidence suggests that a more accurate designation for this condition is the fetal akinesia sequence, which is almost certainly a heterogeneous entity. We describe sibs who were diagnosed as having Pena-Shokeir I syndrome but who did not have the muscular or anterior horn cell changes characteristic of other infants with the fetal akinesia sequence. In addition, both sibs had fetal edema, the first sib had coarctation of the aorta, and the second had polydactyly and thyroid hypoplasia. We suggest that this case provides further evidence for heterogeneity in the fetal akinesia sequence and may represent a provisionally unique syndrome.

Abnormalities, Multiple↗
PubMed1985

Report of a case and further delineation of the SHORT syndrome.

We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.

Abnormalities, Multiple↗
PubMed1983

Brief clinical report: ring-11 chromosome: phenotype-karyotype correlation with deletions of 11q.

The cytogenetic evaluation of a female infant with congenital anomalies led to the identification of the second reported case of a ring-11 chromosome. Unlike the previously described case, in which the patient had only minimal clinical findings and no demonstrable loss of material from the ring, our patient had numerous anomalies that were associated with a substantial deficiency of 11q material. The different phenotypes in these two cases represent variation in the amount and location of the chromosomal material lost during the genesis of the ring. The manifestations of this patient and the deletion of region q24 leads to qter from the ring-11 identify a specific chromosome deletion syndrome referred to as del (11q) syndrome.

Abnormalities, Multiple↗
PubMed1983

Occurrence of neural tube defects among first-, second-, and third-degree relatives of probands: results of a United States study.

Data on the occurrence of neural tube defects in first-, second-, and third-degree relatives of probands were collected in a United States study. The proportions of affected individuals were 3.2%, 0.5%, and 0.17% respectively. These findings are compared to those from other recent North American studies, and differences are discussed. It is pointed out that accurate recurrence risk figures may not be available, and that caution should be used when counseling families with relatives who are affected with NTD.

Cleft Lip↗