Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations

Wiley - Tập 7 Số 1 - Trang 47-74 - 1980
Judith G. Hall1,2, Philip D. Pallister3, Sterling K. Clarren2, J. Bruce Beckwith4,2, F. W. Wiglesworth5, F. Clarke Fraser6,7, S. Cho8, Paul J. Benke9, Susan D. Reed1, John M. Optiz
1Department of Medicine, University of Washington, Children's Orthopedic Hospital and Medical Center, Seattle, Washington
2Department of Pediatrics, University of Washington, Children's Orthopedic Hospital and Medical Center, Seattle, Washington
3Shodair Children's Hospital, Helena, Montana
4Department of Pathology, University of Washington, Children's Orthopedic Hospital and Medical Center, Seattle, Washington
5Department of Pahtology, McGill University, Montreal, Québec
6Department of Biology, McGill University, Montreal, Québec
7Department of Paediatrics, McGill University, Montreal, Québec
8Department of Pediatrics, University of Kansas School of Medicine, Wichita, Kansas
9Department of Pediatrics, University of Miami School of Medicine, Miami, Florida

Tóm tắt

AbstractWe report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congential heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism.All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8‐month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.

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Wiley

Tập 7 Số 1

47-74

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