CRANIOFACIAL DYSOSTOSIS WITH FIBROUS METAPHYSEAL DEFECTS

-. Pt.. 6.#{149}, .__. V - .1 -, “. ,-‘,,4e ..‘L’..,/. :; - 0,,; -_. -“-‘--4-- ... /,- 4#{149}f’#{149} -‘ ‘‘1 ,- p. - “-‘-r-$” #{149}-#{149}. - - ‘;‘ .!‘-,- ,.,-. -. .-‘ ‘“#{149}“ , - * / ‘ ‘,‘‘ ‘ -.. ‘-4.-.- - - #{149} - .77 ‘. - ----,-‘.- ‘.‘ .:;- .‘. I ,4 - I / !!. - ‘‘ -_‘ _._ -“ - . - FIG. I. Photomicrograph of biopsy from one of the metaphyseal lytic defects of the right humerus, showing moderately cellular fibrous tissue having a slightly whorled pattern. (25oX H and E.) * From the Departments of Radiology and Pathology, University of Virghia School of Medicine, Charlottesville, Virginia. VOL. 124, No. 2 271 CRANIOFACIAL DYSOSTOSIS WITH FIBROUS METAPHYSEAL DEFECTS* By THEODORE E. KEATS, M.D., THOMAS H. SMITH, M.D., and DONALD E. SWEET, M.D. CHARLOTTESVILLE, VIRGINIA ]‘tJfUCH of our knowledge of bone dys- .1_v_I plasias has been derived from isolated case reports, which have stimulated reports of similar cases, and a compilation of findings into recognizable syndromes. With this intent we are presenting a patient with rather typical craniofacial dysostosis combined with fibrous metaphyseal defects-an entity which has been reported only once previously. We believe that the similarity of findings in these 2 cases is sufficiently striking to constitute a distinct syndrome. REPORT OF A CASE This patient was first seen at the University of Iowa Hospital. He was a product of a normal pregnancy and delivery with a birth weight of 7 lb., #{231} oz. At the time of birth he was noted to have a grossly abnormally shaped head which was described as being somewhat flattened with a high, sloping forehead, depressed supra- orbital area, a saddle nose, and early proptosis. In addition, the anterior fontanelle was noted to be open, but small. The sagittal suture was palpable and open, while there was some ques- tion about overlap of the coronal sutures. The physical examination was otherwise unremark- able. A diagnosis of Cruzon’s syndrome was made. Skull roentgenograms obtained in early September of 1967 confirmed the physical findings and demonstrated synostosis of the coronal suture. On September 14, 1967, linear coronal craniectomies were carried out. Postopera- tively, he developed hypertrophic pyloric ste- nosis which required pyloromyotomy. The patient was seen in follow-up on Novem- ber 2, 1967, at which time he was noted to have an upper respiratory infection which was evaluated by means of a chest roentgenogram. At that time a lesion was noted in the proximal metaphyseal region of the right humerus which was then biopsied on November 30, 1967 (Fig. i). Our review of this biopsy showed a moderately cellular fibrous defect. No giant or xan- thoma cells were identified. Another follow-up on January 2, 1968 revealed that the defects appeared to have increased in size and addi- tiunal lesions ofan osteolytic cystic nature were seen just distal to the proximal metaphyses of both femora and humeri. Laboratory work-up at that time failed to reveal any significant metabolic defects. The patient’s calcium was 10.4 fig. per cent, phosphorus 7 mg. per cent, alkaline phosphatase units, and total protein was normal. He was readmitted to the University of Iowa Hospital on February 20, 1968, because of progressive closure of the sagittal suture by palpation. Repeat skull roentgenograms revealed the coronal craniectomies to be open, the lambdoidal sutures to be only slightly open, and complete closure of the sagittal suture. It was, therefore, necessary to carry out a parasagittal linear craniectomy on February 23, 1968. A follow-up visit in April of 1968 revealed all the sutures to be open. On October 10th, follow-up serial skull roentgenograms revealed the parasagittal craniectomy to have again closed. Therefore, on October 17 the suture was again reopened by means of surgical intervention. in March of 1969 the child was evaluated by the Pediatric Department because of failure to Downloaded from www.ajronline.org by 171.243.67.90 on 05/30/23 from IP address 171.243.67.90. Copyright ARRS. For personal use only; all rights reserved

CRANIOFACIAL DYSOSTOSIS WITH FIBROUS METAPHYSEAL DEFECTS

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