Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature : D-CHRAMPS syndrome

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...

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Bibliographic Details
Published in:European journal of pediatrics 2002-03, Vol.161 (3), p.170-172
Main Authors: HIYASAT, Dana, DEHYYAT, Munir A, AJLOUNI, Saleh, MUBAIDIN, Ammar F, TILL, Maha, HADIDI, Azmi, EL-SHANTI, Hatem, AJLOUNI, Kamel M
Format: Article
Language:English
Subjects:
Adolescent
Alopecia - genetics
Biological and medical sciences
Body Height
Complex syndromes
Female
Humans
Hypogonadism - genetics
Medical genetics
Medical sciences
Microcephaly - genetics
Psychomotor Disorders - genetics
Retinitis Pigmentosa - genetics
Syndrome
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/s00431-001-0882-8