The Williams elfin facies syndrome

The Journal of PediatricsPublished 1 May 1975

Kenneth Lyons Jones, David W. Smith

DOI10.1016/s0022-3476(75)80356-8

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Citations241

SJR quartileQ1

SJR score1.01

SNIP1.11

TL;DR

The most consistent features are growth deficiency which is predominantly of postnatal onset, mild microcephaly with mental deficiency, and an altered pattern of facial development which includes short palpebral fissures, a stellate pattern in the iris, medial eyebrow flare, and a depressed nasal bridge with anteverted nares.

Abstract

Evaluation of 19 patients with the Williams elfin facies syndrome, in order to more completely delineate the total spectrum of the disorder, indicates that "infantile hypercalcemia, peculiar facies, supravalvular aortic stenosis" designation which was heretofore used is inappropriate. Only 32% of the patients have evidence of supravalvular aortic stenosis and not one of them has had documented hypercalcemia, including eight patients who had a serum calcium determination in the first year of life. Rather, the most consistent features are growth deficiency which is predominantly of postnatal onset, mild microcephaly with mental deficiency, and an altered pattern of facial development which includes short palpebral fissures, a stellate pattern in the iris, medial eyebrow flare, a depressed nasal bridge with anteverted nares, and thick lips. The disorder is a sporadic occurrence of unknown etiology.

Keywords

MedicineNeuroscienceBiochemistry, Genetics and Molecular Biology

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The presence of supravalvular aortic stenosis in mentally retarded patients with the unusual facial features here detailed may constitute a syndrome that has not previously been described.

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104 Citations1966William F. Friedman, William C. Roberts

The results suggest that an in utero derangement in vitamin D metabolism on the part of mother or fetus, or of both, may be responsible for supravalvar aortic stenosis, especially when the latter is associated with infantile hypercalcemia.

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Experimental observations suggest that the cranial, facial, and dental peculiarities as well as the aortic lesion of the supravalvular aorta stenosis syndrome may be related to a derangement in vitamin D metabolism during pregnancy.

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85 Citations1974David W. Smith, Bradley T. Gong

Aberrant scalp-hair patterning may be utilized as an indicator of altered size and/or shape of the brain prior to 12 weeks of gestation.

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54 Citations1966Hobart E. Wiltse, Richard B. Goldbloom +4 more

A combination of the distinctive facies described by Williams et al.,10 mental retardation, aortic hypoplasia and multiple arterial stenoses without supravalvular aorta stenosis has not previously been described and is reported here in identical twins with transient evidence of hypercalcemia in early life.