Metaphyseal Dysostosis and the Associated Syndrome of Pancreatic Insufficiency and Blood Disorders

Since Jansen's description in 1934 of a new skeletal disease severely affecting the metaphyseal region (10), several milder forms of “metaphyseal dysostosis” have been reported in the literature. A more recent and rather interesting observation has been the combination of an exocrine pancreatic insufficiency and/or blood dyscrasia with “metaphyseal dysostosis.” The three cases reported in this paper show the variability of the clinical and radiographic pictures of “metaphyseal dysostosis” Case Reports Case I (J. A. R.): This 10-year-old Caucasian girl was born in 1958. The pregnancy and delivery were normal. Bowing of the legs was noted soon after birth. Bilateral subtrochanteric osteotomy was performed at four and a half years of age for correction of femoral deformities. She was admitted to the Children's Hospital Medical Center at ten years of age for derotation osteotomy with a clinical diagnosis of internal tibial torsion. The patient has been known to have diabetes mellitus for the past twenty months. The father and grandfather of the patient have been reported to be short in stature and considered to be affected with a similar skeletal disease. The mother and the patient's two female siblings are of normal height. The laboratory studies of blood at this admission revealed : red blood cells 4.61 million per mm3; hemoglobin 13.2 g per 100 ml; white blood cells 10,400 per mm3 (neutrophils 75 per cent, lymphocytes 21 per cent , monocytes 4 per cent) ; calcium 10.0 mg per 100 ml ; phosphorus 4.05 mg per 100 ml; alkaline phosphatase 10.32 Bodansky units. A complete bone survey at ten years of age reveals generalized metaphyseal abnormalities, most marked at the large joints of the lower limbs (Fig.1). The changes are minimal in the tubular bones of hands and feet and rib ends and are mild to moderate in the metaphyses of distal radii and ulnae and proximal metaphyses of humeri. Bilateral coxa vara is present. The skull, vertebrae, and pelvic bones appear normal. Figure. 2 shows a biopsy of the physeal plate and adjacent metaphysis of tibia. Case II (T. McD): This 8-year-old Caucasian boy was born in November 1960, the product of an uncomplicated full-term pregnancy and a normal delivery. There was a delay in the onset of respiration after birth. He was noted to have hyperextensibility of fingers, toes, and hip joints. The birth weight was 2.75 kg (3 percentile) and birth length was 49 cm (10 percentile). The parents and his two male and two female siblings are of normal height and weight. The maternal grandmother was said to be short in stature.