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Biomedical subjects

B Say

Publications and source records attributed to B Say.

At least 37 records · Page 2Linked to original sources
PubMed1988

Split notochord syndrome with dorsal enteric fistula and sacral agenesis.

Split notochord syndrome of the lumbosacral spine in association with dorsal enteric fistula is a rare phenomenon. To date, only nine human cases have been reported in the English literature. We present another case of this type, with sacral agenesis as an additional and unique finding. Several etiological theories are discussed including the persistence of the neurenteric canal, the occurrence of an ectopic or accessory neurenteric canal, a division or local redundancy of the notochord, an entodermal-ectodermal adhesion, neural tube rupture caused by oversecretion of fluid, and failure or aberrancy of dorsal aortic distribution to the region of the neural folds resulting in prevention of timely neural tube closure.

Humans↗
PubMed1987

Cloverleaf skull associated with unusual skeletal anomalies.

A male infant with cloverleaf skull and multiple other birth defects born to unrelated, healthy, young parents is presented. Radiologic findings in addition to the cloverleaf skull configuration included short, wide clavicles, winged scapulae, unusual shapes of ribs with abnormal spacing between them and with prominent costovertebral junctions, and widely separated ischia. Ulnae appeared angular with probable fusion to the midportion of the radial bones bilaterally. There was polydactyly of the hands and feet with grossly abnormal metacarpal and metatarsal bones. Skeletal maturation was normal. Computed tomography of the skull showed dilated lateral and third ventricles as well as agenesis of the corpus callosum. The mother denies any teratogenic exposure during the pregnancy. The findings in this infant do not seem to fit into any previously described syndrome.

Abnormalities, Multiple↗
PubMed1987

Skeletal dysplasia in an infant with hypertelorism, hypospadias, developmental delay, and a complex chromosomal translocation.

A male infant with hypertelorism and hypospadias was found to have skeletal changes suggesting metaphyseal dysplasia. Associated findings included congenital nystagmus, hearing impairment, and a complex translocation involving the number 5, 8, and 10 chromosomes. Although some of these abnormalities may be coincidental, they might represent infrequent components of the BBB syndrome. It is just as likely, however, that the syndrome is a new one.

Bone Diseases, Developmental↗
PubMed1987

Partial deletion 21: case report with biochemical studies and review.

An unbalanced translocation of a portion of the long arm of chromosome 21 to the short arm of chromosome 4 resulted in a partial deletion of chromosome 21 (pter----q21.05) and in the loss of the telomere of 4p. The phenotype of the child included asymmetrical facies, microcephaly, short stature, hypotonia, and psychomotor retardation associated with frequent infections. Normal SOD-1 activity in red blood cells and fibroblasts and normal cystathionine beta synthase activity in fibroblasts suggest that these gene loci are distal to 21q21.05.

Abnormalities, Multiple↗
PubMed1986

Cytogenetic findings in acute monocytic leukemia in a renal allograft recipient.

Chromosome analysis of bone marrow cells from a patient with acute monocytic leukemia, who had had a renal transplant followed by immunosuppressive treatment 45 months prior to the onset of leukemia, showed an unusual karyotype: 48,XX,+8,+8, t(1q12----pter::11q12----qter), t(4p12----qter::6p11----pter),t(7p22----qter::12q23 ----qter?), t(1q11----qter::17p11----11qter).

Azathioprine↗
PubMed1986

Microcephaly, short stature, and developmental delay associated with a chemotactic defect and transient hypogammaglobulinaemia in two brothers.

Two brothers presented with unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. They both developed eczema in infancy and have had recurrent infections. Additional physical findings in both boys included hypogonadism, flexion contractures, hypoplastic patellae, and scoliosis. Their facial similarity was striking with sloping foreheads, beaked noses, large, protruding ears, and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were present in both boys in infancy. The hypogammaglobulinaemia was transient and improved, reaching normal levels by 3 1/2 years and 15 months, respectively. Defective chemotaxis and recurrent infections have persisted to the present. Both parents were normal. The mode of inheritance was not clear, as both X linked and autosomal recessive patterns were possible. Although patients with congenital malformations who also had immunodeficiency have previously been reported, immune system abnormalities, especially those of a transient nature, may frequently go unrecognised.

Abnormalities, Multiple↗
PubMed1982

Immunodeficiency in children with severe craniofacial anomalies.

In immunologic studies of 20 children with severe facial birth defects, all were evaluated for quantity of T and B cells, immunoglobulins, and the third component of complement. Only 18 patients could be evaluated for blastogenesis and 16 for chemotaxis. Forty percent of the children had a decreased quantity of B cells. Eighty-three percent had a decrease in pokeweed-stimulated blastogenesis, and 75% showed decreased levels of one or more immunoglobulins. T cells were decreased in 60% of the patients, while 33% and 28% had decreased phytohemagglutinin-stimulated and concanavallin-A-stimulated blastogenesis, respectively. Chemotaxis was diminished in the polymorphonuclear leukocytes of 56% and the mononuclear leukocytes of 75% of the patients evaluated. The association of immune abnormalities and facial birth defects may be more common than in presently recognized.

Adolescent↗
PubMed1982

A homozygote for pericentric inversion of chromosome 4.

A child with developmental and language delay was found to be homozygous for a pericentric inversion of chromosome 4 (inv(4) (p15 X 2q12)). Her normal mother and aunt are inversion heterozygotes. It is suggested that the phenotypic abnormalities may have resulted from damage at chromosomal breakpoints or from a position effect which is expressed only in homozygous form.

Abnormalities, Multiple↗