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Biomedical subjects

R S Wilroy

Publications and source records attributed to R S Wilroy.

At least 55 records · Page 3Linked to original sources
PubMed1983

Anterior sacral defects: an autosomal dominantly inherited condition.

Anterior sacral meningoceles and presacral teratomas are rare congenital malformations associated with a sacrococcygeal bony defect. The inheritance of anterior sacral meningoceles has been proposed to be X-linked dominant, whereas presacral teratomas have been reported to be autosomal dominantly inherited. Anterior meningoceles and teratomas may occur independently or in combination. We report a family in whom at least 11 individuals of three generations have partial sacral agenesis and have had either anterior sacral meningoceles, teratomas, or both. Male-to-male transmission has been documented. Although the existing literature differentiates the inheritance of anterior meningoceles from that of the teratomas, the pleiotropic effects of the gene causing these anterior sacral defects in this family is evident and is consistent with autosomal-dominant inheritance.

Adolescent↗
PubMed1983

Diploid-triploid mosaicism: delineation of the syndrome.

Two unrelated infants with multiple anomalies and diploid-triploid mosaicism are reported. A comparison of their clinical features with those of twelve published reports with 2n/3n karyotype is provided. The data reveal that 2n/3n mosaicism is a clinically recognizable syndrome.

Abnormalities, Multiple↗
PubMed1982

Cystic kidneys in a patient with oral-facial-digital syndrome type I.

A cystic renal lesion is described in a girl with oral-facial-digital syndrome, type I. Excretory urography was normal at 1 yr of age; however, flank masses, hypertension, and renal failure were discovered at 11 yr of age. Bilateral nephrectomies were performed prior to renal transplantation. The renal cortex was replaced by large cysts. The cysts were lined by flattened nondescript epithelium and many contained glomerular tufts. Twenty renal cysts were aspirated, and the cyst fluid analyzed for sodium, potassium, creatinine, and osmolality. The concentration of solutes in the cyst fluid was comparable to plasma values. The pathologic features and pattern of cyst solute concentration appear to distinguish the cystic renal lesion in oral-facial-digital syndrome from the more common adult-type polycystic kidney disease.

Abnormalities, Multiple↗
PubMed1980

The Dubowitz syndrome: the psychological status of ten cases at follow-up.

We report the psychological status of ten people with the Dubowitz syndrome, an autosomal recessive condition characterized by intrauterine and postnatal growth retardation, microcephaly, and high-pitched hoarse voice. Results indicate that the level of intellectual functioning among children with Dubowitz syndrome varies from severe retardation to average intelligence. Our patients have delays in the development of memory, reasoning, expressive vocabulary, fine motor development, and receptive vocabulary, in order of ascending frequency. Data regarding growth status, level of adaptive functioning, and presence of behavioral deficits are also presented.

Child↗
PubMed1979

Duplication 6q syndrome.

Duplication (partial trisomy) of the long arm of chromosome 6 has been described in 5 children [Robertson et al, 1975, Chen et al, 1976, Clark, 1977]. We wish to report here an additional case due to a familial translocation in which the proband's karyotype is 46,XX,der(3),rcp(3;6)(p25;q21)mat. The phenotypes of the 6 children with duplication 6q are strikingly similar. Each child has duplication involving approximately the distal 1/3 to 1/2 of the long arm of chromosome 6. Distinctive features present in all 6 children include microcephaly, acrocephaly, prominent forehead, flat facial profile, depressed nasal bridge, flat malar areas, "carp" mouth, micrognathia and mental retardation. The phenotype of the duplication 6q syndrome is distinctive enough to be clinically recognizable.

Abnormalities, Multiple↗
PubMed1979

Prune perineum.

An infant, born to unrelated parents, who had a rugated perineal mass which measured 17 cm in diameter is reported. No external genitalia or anal orifice was identified although the infant voided from a 5 mm crevice on the caudal surface of the mass. The patient died at four weeks of age. The perineal mass was made up of two separate sacs. The anterior sac resembled a urinary bladder in which two ureteral and a single vaginal orifice were identified. The posterior sac was continuous with the peritoneal cavity and contained bowel, left ovary, uterus and right kidney. The left kidney was small, polycystic and the right gonad a streak.

Abnormalities, Multiple↗
PubMed1979

Strychnine therapy in nonketotic hyperglycinemia.

Nonketotic hyperglycinemia is an inborn error of metabolism resulting from a defect in the glycine cleavage enzyme system. It is characterized biochemically by elevated concentrations of glycine in blood, spinal fluid, and urine. Previous therapies which have been directed toward reducing the glycine concentration in plasma and CSF have not been successful in preventing neurological deterioration, which may be the result of the role of glycine as an inhibitory neurotransmitter. Strychnine treatment was initiated because it is a specific antagonist of glycine at postsynaptic membranes. The patient reported here has shown clinical and EEG improvement while taking strychnine in conjunction with sodium benzoate.

Benzoates↗
PubMed1978

The Dubowitz syndrome.

The Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance, high-pitched hoarse voice, and borderline intelligence or mild mental retardation. Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects. The 13 cases reported in the European literature and eight personally examined patients are reviewed.

Abnormalities, Multiple↗
PubMed1977

Tissue limited mosaicism for unbalanced autosomal translocation in a child with congenital anomalies and mental retardation.

We studied a patient with a sporadic mental retardation/multiple congenital anomalies syndrome. Chromosome analysis showed a 46,XX, inv(9)(p 11;q13) karyotype in all lymphocytes. Fibroblasts from two separate skin biopsies revealed a mosaic karyotype. Some 22.5% of fibroblasts had a karyotype like that of the lymphocytes, while 77.5% of fibroblasts had a karyotype 46,XX,inv(9)(p11;q13),der(12),t(12;?)(P13;?). The data in this case emphasize the drawbacks of confining cytogenetic analysis to lymphocytes.

Abnormalities, Multiple↗
PubMed1977

Apparently balanced de novo translocations in patients with abnormal phenotypes: report of 6 cases.

Six patients have been ascertained because of abnormal phenotypes but with apparently balanced de novo translocations. Five of them were mentally retarded with multiple congenital anomalies. The sixth patient had normal mental development but revealed ambiguous genitalia and multiple congenital anomalies. No syndromal diagnosis was possible in any of the six cases. The appearance of apparently balanced reciprocal translocations in association with abnormal phenotype may be coincidental, or the two may be causally related. If the latter is true, the causal relationship may be based upon: 1) a submicroscopic chromosomal loss, 2) position effect, or 3) a mutation at the site of the break in one or both translocated chromosomes.

Abnormalities, Multiple↗
PubMed1977

Partial monosomy and partial trisomy for different segments of chromosome 13 in several individuals of the same family.

A reciprocal translocation, 46,XX,rcp(13;17)(q13;p13), was found to be segregating in a family. Two children have duplication of the distal portion of the long arm of chromosome 13, 46,XX,der(17),rcp(13;17)(q13;p13)mat. They are mentally retarded, have long philtra and postaxial hexadactyly. A maternal half-uncle has a duplication of the short arm and proximal portion of the long arm of chromosome 13, 47,XY,+der(13),rcp (13;17)(q13;p13)mat. He is mentally retarded, has scalp and skull defects and a very short philtrum. A fetus was found, on analysis of amniotic fluid cells, to have a deletion of the distal portion of the long arm of chromosome 13, 46,XX,der,(13),rcp(13;17)(q13;p13)mat. The fetus had multiple internal abnormalities and only 4 fingers on each hand.

Adult↗
PubMed1977

Familial gingival fibromatosis associated with progressive deafness in five generations of a family.

Gingival hyperplasia may be inherited in a variety of ways, usually in an autosomal dominant or autosomal recessive manner. Additional phenotypic abnormalities are frequently associated with the gingival hyperplasia. To our knowledge, the family described here represents the first instance of autosomal dominantly inherited gingival hyperplasia associated with progressive neural hearing loss.

Adult↗