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D P Murphy

Publications and source records attributed to D P Murphy.

44 records · Page 3Linked to original sources
PubMed1975

Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21).

Close phenotypic similarity between two cases carrying a rec(3) dup q,inv(3) (p25q21), 12 additional infants from the same inv (3)(p25q21) kindred who lived less than 1 year, and eight cases studied in other medical centers has led us to postulate the existence of a distinct chromosome 3 duplication-deletion syndrome. In the presence of trisomy for (3)q21 leads to qter and monosomy for (3)p25 leads to pter, the facial dysmorphy is unique: a distorted head shape due to irregular cranial sutures, thick low eyebrows, long eyelashes, persistent lanugo, distended veins on the scalp, hypertelorism, oblique palpebral fissures, a very short nose with a broad depressed bridge and anteverted nares, protruding maxilla, thin upper lip, micrognathia, low-set ears, and a short webbed neck. Port-wine stains, congenital glaucoma, cloudy corneas, cleft palate and harelip also occur frequently. Each infant has difficulty sucking and swallowing. Congenital anomalies of the cardiovascular system, of midgut rotation, and of the urogenital system are noted for the infants who died neonatally. Most frequent is a ventricular septal defect, followed by atrial septal defect, patent ductus arteriosus, patent foramen ovale, and coarctation of the aorta. Omphalocele, umbilical hernia, hyperplastic kidneys, polycystic kidneys, double ureter, hydro-ureter, hydronephrosis, and undescended testes often occur. The extremities are short in proportion to the length of the trunk. Clinodactyly, coxa valga, talipes, and spina bifida are frequently observed.

Abnormalities, Multiple↗
PubMedDate not supplied

Mortality patterns among persons with antecedent syphilis infection.

BACKGROUND AND OBJECTIVES: Few studies have examined the patterns of death among persons with a history of syphilis infection. GOALS OF THIS STUDY: This analysis examines the cause-specific mortality patterns among a cohort of persons diagnosed with syphilis. STUDY DESIGN: Individuals diagnosed with serologically confirmed syphilis in New York State (excluding New York City) between 1972 and 1987 were matched to the New York State mortality files to identify the deaths among members of the cohort. RESULTS: The overall observed mortality between 1973 and 1987 was generally comparable to the expected number among both men (SMR = 0.94; 95% CI = 0.87-1.02) and women (SMR = 0.88; 0.78-0.99). An excess of deaths due to all causes was observed among men between the ages of 25 and 54 (SMR = 1.74; 1.53-1.97), with the largest excess observed in the 25- to 34-year-old age group (SMR = 2.32; 1.87-2.85). Among men, excesses were noted for deaths due to AIDS-related causes. Among both genders, excess deaths were observed for possible alcohol-related causes. CONCLUSION: The unique mortality patterns of this cohort suggest the need for increased identification of and interventions directed toward high-risk behavior of individuals diagnosed with syphilis.

Adult↗