Document Detail


Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
MedLine Citation:
PMID:  11694546     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Acromicric dysplasia is a rare bone dysplasia characterised by short stature, short hands and feet, normal intelligence, mild facial dysmorphism, and characteristic x ray abnormalities of the hands. Only a very small number of children with this condition have been reported so far. Here we report on a series of 22 patients including 10 boys and 12 girls with acromicric dysplasia. Length was normal at birth and height fell progressively off the centiles postnatally. The mean adult height was 130 cm (133 cm in males, 129 cm in females). The hands, feet, and limbs were short and OFC was normal. Intelligence was normal and mild dysmorphic features were noted. Other occasional features included well developed muscles, a hoarse voice, generalised joint limitation in some patients, frequent ear, tracheal, and respiratory complication, and spine abnormalities. Long term follow up showed that facial dysmorphism was less obvious in adults and that carpal tunnel syndrome was frequent in older patients. Apart from short metacarpals and phalanges, internal notch of the second metacarpal, external notch of the fifth metacarpal, and internal notch of the femoral heads, there were no major x ray abnormalities. No major complications, such as cardiac disease or major orthopaedic problems, occurred in the course of the disease. The condition appeared to be sporadic in 16 cases but the observation of vertical transmission in three families was consistent with an autosomal dominant mode of inheritance.
Authors:
L Faivre; M Le Merrer; C Baumann; M Polak; P Chatelain; V Sulmont; J Cousin; M Bost; M P Cordier; E Zackai; K Russell; G Finidori; J C Pouliquen; A Munnich; P Maroteaux; V Cormier-Daire
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of medical genetics     Volume:  38     ISSN:  1468-6244     ISO Abbreviation:  J. Med. Genet.     Publication Date:  2001 Nov 
Date Detail:
Created Date:  2001-11-05     Completed Date:  2002-02-04     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  745-9     Citation Subset:  IM    
Affiliation:
Département de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  pathology
Adolescent
Adult
Body Height / genetics
Bone Diseases, Developmental / pathology*
Child
Child, Preschool
Face / abnormalities*
Family Health
Female
Genes, Dominant / genetics
Humans
Limb Deformities, Congenital / pathology*
Male
Middle Aged
Pedigree
Time Factors
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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