ISSN:
1432-1076
Schlagwort(e):
New skeletal dysplasia
;
Multiple epiphyseal dysplasia
;
Delayed maturation of hand feet pelvis sacrum
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract Three brothers with a constitutional skeletal dysplasia characterized by an excessively retarded ossification, principally of the epiphyses, the pelvis, the hands and the feet, are reported. In the hands and feet the retarded ossification is combined with an abnormal modeling of the bones. All the children appeared normal at birth. At the time of examination a moderate degree of dwarfism could be predicted. There was no mental retardation. All laboratory investigations including chromosomal analyses and examination for acid mucopolysaccharides in the urine were normal. Parental consanguinity suggest an autosomal recessive inheritance. There is no resemblance of this disorder to any of the hitherto described groups of constitutional diseases of bones.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF00572767
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