Esophageal atresia with tracheoesophageal fistula in four male members of a kindred.
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Child, Preschool↗
Biomedical subjects
J W Bianchine
Publications and source records attributed to J W Bianchine.
Letter: Noonan syndrome and fetal alcohol syndrome.
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Alcoholism↗
The MASA syndrome: a new heritable mental retardation syndrome.
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Abnormalities, Multiple↗
Letter: Acromial dimples: a benign familial trait.
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Adult↗
Noonan syndrome and trisomy 21 mongolism in sibs.
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Abnormalities, Multiple↗
Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfecta.
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Adult↗
More speculation on Marfan syndrome.
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Child↗
Camptomelic dwarfism.
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Abnormalities, Multiple↗
Treatment of spasmodic torticollis with diazepam.
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Adolescent↗
Nevus sebaceus of Jadassohn with associated syringocystadenoma papilliferum.
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Adenoma, Sweat Gland↗
A family with microphthalmia, anophthalmia and concomitant oligophrenia.
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Anophthalmos↗
Athyreotic cretinism in two sisters.
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Adolescent↗
Nephrogenic (vasopressin-resistant) diabetes insipidus with the usual X-linked inheritance.
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Child↗
Familial hypophosphatemic rickets showing autosomal dominant inheritance.
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Adolescent↗
Vitamin D-dependent rickets ("hereditäre pseudomangelrachitis") in two sibs.
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Alkaline Phosphatase↗
The Prader-Willi syndrome with cardiorespiratory complications.
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Adult↗
Darier's disease (keratosis follicularis) in two families.
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Adult↗