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May 1948

DYSOSTOSIS OF SKULL, FACE AND EXTREMITIES (ACROCEPHALOSYNDACTYLY)

Author Affiliations

CINCINNATI; MIDDLETOWN, CONN.
From the Research Unit and Hospital-Infirmary Division, Walter E. Fernald State School, Waverley, Mass.

Am J Dis Child. 1948;75(5):688-694. doi:10.1001/archpedi.1948.02030020705004
Abstract

IN CONNECTION with the study of a recently observed case of acrocephaly, facial deformities and syndactylism, with mental deficiency, the literature pertaining to clinical descriptions of similar cases was reviewed.

REPORT OF A CASE  History.—J. C., a white boy of Italian parentage, was admitted to the Walter E. Fernald State School on July 5, 1943, at the age of 12 years, because of asocial behavior and gross physical deformity. He was born June 20, 1931, the youngest of seven children. The birth was one month premature but otherwise normal; multiple physical defects were obvious at birth. Nursing was difficult because of cleft palate; he had daily convulsions from the age of 2 days to 4 years. Development was retarded, with teething at 1 year, walking at 2½ years, and poorly articulate speech at 4 years. He had uncomplicated measles, mumps, chickenpox and pneumonia before the age of 5 years.

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