Spondylocostal dysostosis was present in three unrelated girls: a newborn with a severe from, a 16-year-old girl and a 17-month-old infant both with a mild form of the disease. They had clinical and radiographic manifestations typical of the syndrome, and in addition, several abnormalities not described previously. The latter included a right ovarian cyst and hypoplasia of the left leg in Patient 1, and aplasia of the left kidney in Patient 2. The three patients, each with different clinical manifestations, illustrate genetic heterogeneity of the syndrome.
Aymé, S. and Preus, M. 1986. Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling.Am. J. Med. Genet. 24:599–606.
Jarcho, S. and Levin, P.M. 1938. Hereditary malformation of the vertebral bodies.Bull. Johns Hopkins Hosp. 62: 216–226.
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Ohashi, H., Sugio, Y. & Kajii, T. Spondylocostal dysostosis: Report of three patients. Jap J Human Genet 32, 299–303 (1987). https://doi.org/10.1007/BF01910285
- Mild Form
- Ovarian Cyst
- Short Neck
- Severe Pulmonary Hypertension
- Pectus Excavatum
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