Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic …
JG Hall, PD Pallister, SK Clarren… - American journal of …, 1980 - Wiley Online Library
JG Hall, PD Pallister, SK Clarren, JB Beckwith, FW Wiglesworth, FC Fraser, S Cho, PJ Benke…
American journal of medical genetics, 1980•Wiley Online LibraryWe 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 …
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 …
Abstract
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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