Literature DB >> 11998919

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

Dana Hiyasat, Munir A Dehyyat, Saleh Ajlouni, Ammar F Mubaidin, Maha Till, Azmi Hadidi, Hatem El-Shanti, Kamel M Ajlouni.   

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.

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Mesh：

Year:  2002        PMID： 11998919     DOI： 10.1007/s00431-001-0882-8

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  7 in total

1.  Microcephaly with chorioretinal degeneration.

Authors:  L O Atchaneeyasakul; L Linck; R G Weleber
Journal:  Ophthalmic Genet       Date:  1998-03       Impact factor: 1.803

2.  Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

Authors:  S W Knight; N S Heiss; T J Vulliamy; C M Aalfs; C McMahon; P Richmond; A Jones; R C Hennekam; A Poustka; P J Mason; I Dokal
Journal:  Br J Haematol       Date:  1999-11       Impact factor: 6.998

3.  Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome.

Authors:  J M Dooley; G R LaRoche; F Tremblay; M Riding
Journal:  Pediatr Neurol       Date:  1992 May-Jun       Impact factor: 3.372

Review 4.  A syndrome of primary combined immunodeficiency with microcephaly, cerebellar hypoplasia, growth failure and progressive pancytopenia.

Authors:  F Berthet; R Caduff; U B Schaad; H Roten; P Tuchschmid; E Boltshauser; R A Seger
Journal:  Eur J Pediatr       Date:  1994-05       Impact factor: 3.183

5.  Autosomal-dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I.

Authors:  A Benomar; E Le Guern; A Dürr; H Ouhabi; G Stevanin; M Yahyaoui; T Chkili; Y Agid; A Brice
Journal:  Ann Neurol       Date:  1994-04       Impact factor: 10.422

6.  Autosomal recessive cerebellar hypoplasia and endosteal sclerosis: a newly recognized syndrome.

Authors:  J Charrow; A K Poznanski; F M Unger; M Robinow
Journal:  Am J Med Genet       Date:  1991-12-15

7.  A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure.

Authors:  S Hreidarsson; K Kristjansson; G Johannesson; J H Johannsson
Journal:  Acta Paediatr Scand       Date:  1988-09
  7 in total

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