Abstract
We present two sisters from a non-consanguineous family with a unique constellation of features. The first child was born after an uncomplicated pregnancy with bilateral cataracts detected in the neonatal period. A metabolic work-up was negative and physical exam was normal. Review at age 3 years showed proportionate short stature, delay in gross motor milestones and minor dysmorphic features. Her karyotype was 46, XX and growth hormone stimulation testing was normal. A skeletal survey at age 9 years showed delayed bone age, unusual calcification within the disc spaces, flattened vertebrae with an ovoid shape, abnormally shaped epiphyses of the hands and feet, and a few wormian bones. When seen at age 10 years, she had significant learning problems and the added feature of ataxia.
Her younger sister presented in the neonatal period with bilateral congenital cataracts and at review at age 8 years had proportionate short stature, ataxia, learning disability and similar mild dysmorphic features and skeletal findings to her sister. A cranial CT scan was normal except for small optic nerves.
Literature and syndrome database review did not provide a diagnosis and their features appear to represent a new autosomal recessive condition.
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McLeod, D., Boag, G., Trussell, R. et al. Unique skeletal dysplasia with cataracts, ataxia, learning disability and mild facial dysmorphism. Genet Med 2, 82 (2000). https://doi.org/10.1097/00125817-200001000-00111
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DOI: https://doi.org/10.1097/00125817-200001000-00111