| Non-haematological traits associated with congenital dyserythropoietic anaemia type 1: a new entity emerging. | |
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MedLine Citation:
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PMID: 9220189 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Dysmorphic features in three sibs with congenital dyserythropoietic anaemia type 1 are described. These findings include growth retardation/short stature, congenital ptosis, abnormal tarsal bones, metatarsal duplication/hypoplasia, nail/phalangeal hypoplasia of fingers and toes, Madelung deformity, syndactyly of toes, and hallux valgus. The patients also showed a very low mitotic index of their peripheral blood lymphocyte cultures. Phenotypic heterogeneity was elicited amongst the three Bedouin sibs. The present report confirms the association between a subset of congenital dyserythropoietic anaemia type 1 and a specific form of distal limb anomalies and suggests that other traits, congenital ptosis and low mitotic index, could represent part of the syndrome profile. |
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Authors:
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M A Sabry; M Zaki; S A al Awadi; Q al Saleh; M S Mattar |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 6 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1997 Jul |
Date Detail:
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Created Date: 1997-09-22 Completed Date: 1997-09-22 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 205-12 Citation Subset: IM |
Affiliation:
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Kuwait Medical Genetics Centre, Maternity Hospital, Kuwait. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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blood,
genetics*,
pathology Adolescent Anemia, Dyserythropoietic, Congenital / blood, genetics*, pathology Blepharoptosis / genetics Bone and Bones / abnormalities Child, Preschool Consanguinity Female Growth Disorders / genetics Humans Infant Limb Deformities, Congenital Lymphocytes / pathology Male Mitosis Phenotype Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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