Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations
Tóm tắt
We 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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Tài liệu tham khảo
Ashcraft KW, 1975, Familial presacral teratoma, BDOAS, 11, 143
ClarenSK AlvordEC HallJG(This issue):Hypothalamic hamartoblastoma ‐ an unusual tumor found in 3 neonates.
Dungy C, Hereditary hydrometrocolpos with polydactyly in infancy, Pediatrics, 47, 138, 10.1542/peds.47.1.138
Dungy C, 1971, Hereditary hydrometrocolpos with polydactyly in infancy, Pediatrics, 47, 138, 10.1542/peds.47.1.138
Frias JL, 1975, Two new familial cases of the G syndrome, BDOAS, 11, 54
Jeune M, 1955, Dystrophie thoracique asphyxiante de caractere familial, Arch Fr Pediatr, 12, 886
Lanes R, 1978, Congenital hypopituitarism and conjugated hyperbilirubinemia in two infants, Am J Dis Child, 132, 926
Little JR, 1971, Case reports: The G syndrome, Am J Dis Child, 121, 505
McKusick VA, 1964, Hydrometrocolpos as a simply inherited malformation, JAMA, 198, 813
Opitz JM, 1967, The Meckel syndrome (dysencephalia splanchnocystica, the Gruber syndrome), BDOAS, 5, 167
Puri P, 1975, Familial sacral anomalies, Z Kinderchirurgie, 17, 389
Rimoin D, 1971, Genetic Disorders of the Endocrine Glands
Rooze MA, 1977, The effects of the Dh gene on limb morphogenesis in the mouse, BDOAS, 13, 69
Smith H, 1965, Chondroectodermal dysplasia (Ellis‐van Creveld syndrome), Pediatrics, 21, 298, 10.1542/peds.21.2.298
Temtamy S, 1978, Schinzel syndrome of ulnar ray defects, hypogenitalism and anal atresia, BDOAS, 14, 156
Uehlinger E, 1957, Pathologische Anatomie der chondro‐ektodermalen Dysplasie Ellis‐van Creveld, Schweiz A Path Bakt, 20, 754
Warkany J, 1971, Congenital Malformations
Yunis J, 1977, New Chromosomal Syndromes, 69