December 1986

Picture of the Month

Author Affiliations

Contributed from the National Birth Defects Center, Kennedy Memorial Hospital, Brighton, Mass.

Am J Dis Child. 1986;140(12):1271-1272. doi:10.1001/archpedi.1986.02140260073029

The findings listed below are best associated with which of the above figures:

  • Neonatal hypoglycemia

  • Cleft lip and palate

  • Hearing loss

  • Omphalocele or umbilical hernia

Denouement and Discussion  (a) Macroglossia (Fig 1) is a constant finding in the Beckwith-Wiedemann syndrome, which also includes neonatal hypoglycemia and omphalocele or umbilical hernia. Other abnormalities consist of visceromegaly, neonatal polycythemia, earlobe grooves, and relative mandibular prognathism. The neonatal hypoglycemia, which may be difficult to treat, may last up to three years. There are reports of hypoglycemia occurring in adult life. It is important to be aware of the increased incidence of tumors, especially if asymmetry is present.(b) Lip pits or indentations of the lower lip (Fig 2) are associated with an autosomal-dominant type of cleft lip and palate. The recurrence risk in this situation is 50%, in contrast to the recurrence risk for the usual multifactorial type of

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