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• W4205654859 abstract "THIS REPORT describes an infant with craniofacial dysostosis noted at birth. As in the original description by Crouzon, the infant demonstrated a bony-hard protrusion of the skull in the region of the anterior fontanelle, with widening of the transverse diameter and anteroposterior shortening. In addition, the presence of relative prognathism and exophthalmos with divergent strabismus completed the classic picture. Crouzon's first description of the syndrome was reported in 1912 in a woman and her son. Three years later he described a family in which 7 of 21 members were affected. That paper stressed the hereditary aspects of the syndrome. Since then few papers have been concerned with heredity. Atkinson collected 86 cases of the malformation, in which 56 patients had positive family histories. Fogh-Anderson suggested the pattern of simple dominance, when he described an affected mother who had affected children in two different marriages. One of hen pregnancies produced dizygotic twins, only one of whom was affected. Flippen reported a family in which 10 of 21 progeny in four generations were affected. He concluded that this represents the expression of . . . an heterozygous, dominant trait. Extensive investigation of the family history of the patient reported herein revealed the data which comprise the body of this report. CASE REPORT Clinical History The patient was born at home and transferred immediately to Norwalk Hospital. At the time of admission he weighed 3,360 gm. Physical examination revealed a well-developed infant, normal except for the head which is better illustrated than described (Fig. 1). The skull malformation was bony-hard to palpation except for the anterior fontanelle, which measured less than 1 by 1 cm. All suture lines were closed. The posterior fontanelle was not palpable. Hypertelorism and exophthalmos were present. Bilateral divergent strabismus was observed intermittently. The optic fundi appeared normal. Roentgenograms of the skull showed premature closure of all sutures. A small segment of the anterior fontanelle was open. The remainder of the protuberance in the midline anteriorly was supported by plates of bone (Fig. 2). The infant sucked and swallowed well and had normal motor activity. Reflexes were normal. Two craniectomies were performed uneventfully for excision of bone in the area of the coronal sutures. He was discharged home at the age of 4 months with minimal noticeable change in skull shape." @default.
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• W4205654859 date "1959-01-01" @default.
• W4205654859 modified "2023-10-11" @default.
• W4205654859 title "CRANIOFACIAL DYSOSTOSIS OF CROUZON" @default.
• W4205654859 doi "https://doi.org/10.1542/peds.23.1.107" @default.
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