Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
- 25 January 2002
- journal article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 161 (3) , 170-172
- https://doi.org/10.1007/s00431-001-0882-8
Abstract
We here report a rather novel syndrome of dysmorphic features, short stature, microcephaly, alopecia, psychomotor retardation, retinitis pigmentosa and secondary amenorrhoea. This may present a new complex multisystem disorder distinct from those reported in the literature and we propose the acronym D-CHRAMPS for this novel disorder.Keywords
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