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Endocrine, Chromosomal, Dermatoglyphic, and Craniofacial Studies

Lynn M. Taussig, MD; Glenn D. Braunstein, MD; Beverly J. White, MD; Richard L. Christiansen, DDS, MSD, PhD

Am J Dis Child. 1973;125(4):495-503.

Abstract
A 6-year-old male twin with cystic fibrosis (CF) and the Russell variant of the Silver-Russell dwarf was studied as were his normal twin sister, parents, and two other siblings. For the first time, detailed craniofacial measurements describing the craniofacial dysostosis common to the Silver-Russell syndrome were made and analyzed. Chromosomes, studied by the Giemsa-banding technique, were normal in the patient and other family members. The patient had markedly increased atd angles and whorls on all fingers. Growth hormone and plasma and urinary gonadotropin levels were normal.

It is postulated that the cause of the Silver-Russell syndrome is genetic, since it is concordant in monozygotic twins, nonconcordant in fraternal twins, and occurs in siblings from parents with a common ancestor. The combination of Silver-Russell dwarfism and CF may be coincidental.

Author Affiliations
Bethesda, MD

From the Pediatric Metabolism Branch (Dr. Taussig) and the Laboratory of Experimental Pathology (Dr. White), National Institute of Arthritis, Metabolism, and Digestive Diseases; the Reproduction Research Branch, National Institute of Child Health and Human Development (Dr. Braunstein); and the Oral Medicine and Surgery Branch, National Institute of Dental Research (Dr. Christiansen), National Institutes of Health, Bethesda, MD.

Footnotes
Received for publication June 19, 1972; accepted Dec 29.

Reprint requests to National Institutes of Health, Bldg 10, Room 8N-250, Bethesda, MD 20014 (Paul A. di Sant'Agnese, MD).

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