Main symptoms are gigantism, macroglossia and umbilical abnormalities in newborn, enlarged liver and spleen, hyperplasia of the kidney, congenital abnormalities of the urinary tract, slight microcephaly, clonic seizures, often omphalocele (congenital hernia into the umbilical cord). Elements of congestive heart failure. Some patients develop hemihypertrophy, and there appears to be an increased risk of adrenal carcinoma, Wilm’s tumor, or other intra-abdominal neoplasms. Mental retardation may occur. Etiology unknown. Most cases sporadic, but autosomal dominant inheritance reported.
In 1963 Beckwith reported the autopsy findings in three affected children in the preceding year at the annual meeting of the Western Society of Paediatric Residents, Los Angeles. In 1964 he documented two further cases in an abstract, which was read by title at the American Paediatric Society meeting, Seattle. Wiedemann in 1964 described three siblings with a malformation syndrome in which umbilical hernia and enlargement of the tongue were significant features.
According to the Beckwith-Wiedemann Children's Foundation, Combs did not add any important new knowledge to this syndrome, and his name should therefore not be associated with it.
We thank Markus Dengl for correcting an error.
- J. B. Beckwith:
Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig-cell hyperplasia: another syndrome?
Presented at 11th Annual Meeting of Western Society for Pediatric Research, Los Angeles, November 11, 12, 1963. No 20.
- J. B. Beckwith, C.I. Wang, G. N. Donnel, et al:
Hyperplastic fetal visceromegaly mith macroglossia, omphalocele, cytomegaly of adrenal fetal cortex, postnatal somatic gigantism and other abnormalties: Newly recognized syndrome (Abst no 41).
Proceedings of the American Pediatric Society, Seattle, June 1964: 16-18.
- H-R. Wiedemann:
Complexe malformatif familal avec hernie ombilicale et macroglossie; un "syndrome nouveau"?
Journal de génétique humaine, Geneva, 1964, 13: 223-363. Das EMG-Syndrom: Exomphalos, Makroglossie, Gigantismus und Kohlenhydratstoffwechselstörung.
Zeitschrift für Kinderheilkunde, Berlin, 1969, 106: 171. An unidentified neonatal progeroid syndrome: follow-up report.
European Journal of Pediatrics, Berlin, 1979, 130: 65.
- J. T. Combs, et al:
A new syndrome of neonatal hypoglycemia association with visceromegaly, microcephaly and abnormal umbilicus.
The New England Journal of Medicine, Boston, 1966, 275: 236-243.