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Your search keyword '"Kaufman RL"' showing total 5 results
Start Over Author "Kaufman RL" Journal american journal of diseases of children 1960
5 results on '"Kaufman RL"'

1. Y-21 translocation with gonadal and renal dysgenesis and cardiac rupture.

Author

Hillman LS, Sekhon GS, Kaufman RL, and Ho CK

Subjects
Abnormalities, Multiple, Autopsy, Female, Gonads pathology, Heart Defects, Congenital complications, Humans, Infant, Newborn, Karyotyping, Kidney pathology, Rupture, Spontaneous, Sex Chromosomes, Syndrome, Chromosome Aberrations, Chromosomes, Human, 21-22 and Y, Face abnormalities, Heart Defects, Congenital pathology, Kidney abnormalities, Translocation, Genetic, Turner Syndrome genetics
Published
1974
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2. Variable expression of the Holt-Oram syndrome.

Author

Kaufman RL, Rimoin DL, McAlister WH, and Hartmann AF

Subjects
Chromosome Aberrations, Chromosome Disorders, Genetic Counseling, Hand diagnostic imaging, Humans, Pedigree, Radiography, Sex Factors, Abnormalities, Multiple, Ectromelia complications, Hand Deformities, Congenital, Heart Defects, Congenital complications
Published
1974
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3. Congenital malformations. Cleft palate, congenital heart disease, absent tibiae, and polydactyly.

Author

Ho CK, Kaufman RL, and McAlister WH

Subjects
Chloramines adverse effects, Chlorpromazine adverse effects, Cleft Palate chemically induced, Diphenoxylate adverse effects, Estrogens, Conjugated (USP) adverse effects, Female, Heart Defects, Congenital chemically induced, Humans, Hyperemesis Gravidarum drug therapy, Infant, Newborn, Maternal-Fetal Exchange, Micrognathism chemically induced, Mucopolysaccharidosis VI chemically induced, Pregnancy, Prochlorperazine adverse effects, Psychomotor Disorders chemically induced, Vitamins adverse effects, Abnormalities, Drug-Induced etiology, Abnormalities, Multiple chemically induced, Pregnancy Complications chemically induced
Abstract

A girl had cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, absent tibiae, bowed fibulae, preaxial polydactyly of the feet, and abnormal dermal patterns at birth. She was born after a pregnancy complicated by exposure to multiple medications. This combination of malformations may represent a distinct entity unrelated to the medication or may be a complication of the intrauterine drug exposure.

Published
1975
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4. Nephrogenic diabetes insipidus in a Negro kindred.

Author

Feigin RD, Rimoin DL, and Kaufman RL

Subjects
Adolescent, Adult, Child, Child, Preschool, Chlorothiazide therapeutic use, Chromosome Aberrations, Chromosome Disorders, Clinical Laboratory Techniques, Diabetes Insipidus complications, Diabetes Insipidus diagnosis, Diabetes Insipidus drug therapy, Female, Humans, Intellectual Disability complications, Male, Pedigree, Polyuria etiology, Urine analysis, Black or African American, Diabetes Insipidus genetics, Kidney Tubules abnormalities, Mutation
Published
1970
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5. Thanatophoric dwarfism.

Author

Kaufman RL, Rimoin DL, McAlister WH, and Kissane JM

Subjects
Adult, Autopsy, Bone and Bones pathology, Chondrodysplasia Punctata diagnosis, Diagnosis, Differential, Ellis-Van Creveld Syndrome diagnosis, Female, Humans, Infant, Newborn, Male, Mucopolysaccharidosis IV diagnosis, Pregnancy, Radiography, Abnormalities, Multiple diagnosis, Abnormalities, Multiple mortality, Abnormalities, Multiple pathology, Achondroplasia diagnosis, Bone and Bones abnormalities, Dwarfism diagnostic imaging, Dwarfism mortality, Dwarfism pathology, Infant, Newborn, Diseases
Published
1970
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