Journal article
Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature : D-CHRAMPS syndrome
European journal of pediatrics, Vol.161(3), pp.170-172
2002
DOI: 10.1007/s00431-001-0882-8
PMID: 11998919
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.
Details
- Title: Subtitle
- Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature : D-CHRAMPS syndrome
- Creators
- Dana HIYASAT - Department of Internal Medicine, Jordan University Hospital, Amman, JordanMunir A DEHYYAT - Department of Internal Medicine, King Hussein Medical Centre, Amman, JordanSaleh AJLOUNI - Department of Paediatrics, King Hussein Medical Centre, Amman, JordanAmmar F MUBAIDIN - Department of Internal Medicine, King Hussein Medical Centre, Amman, JordanMaha TILL - Department of Ophthalmology, Jordan University Hospital, Amman, JordanAzmi HADIDI - Department of Radiology, Jordan University Hospital, Amman, JordanHatem EL-SHANTI - Department of Paediatrics, Jordan University of Science and Technology, Irbid, JordanKamel M AJLOUNI - Department of Internal Medicine, Jordan University Hospital, Amman, Jordan
- Resource Type
- Journal article
- Publication Details
- European journal of pediatrics, Vol.161(3), pp.170-172
- Publisher
- Springer
- DOI
- 10.1007/s00431-001-0882-8
- PMID
- 11998919
- ISSN
- 0340-6199
- eISSN
- 1432-1076
- Language
- English
- Date published
- 2002
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093606702771
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