Search results for "autosomal recessive inheritance"
showing 5 items of 5 documents
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
1996
A new type of osteodysplastic primordial dwarfism is delineated in a 5- year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.
Spondylo-costal dysostosis in two siblings
1992
Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even considering the occurrence of cases with autosomal dominant as well as recessive inheritance.
Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis.
1988
Dalmatian dogs may develop a neuronal or generalized ceroid-lipofuscinosis (NCL) which strongly resembles that seen in English setters, especially as to the ultrastructural changes and ubiquity of the stored lipopigments and the retinal pathology, while differing clinically from the disorder of English setters in that the disease has a longer course of up to 5 or 6 yr. Clinical onset is at about age 6 months; however, an unequivocal morphological diagnosis is possible between the 4th and 5th month of life in biopsied skin. Detailed data of additional investigations are in progress and are awaiting later publication. Thus, NCL in the Dalmatian dog, though not yet as thoroughly investigated a…
The clinical spectrum of alpha-L-iduronidase deficiency.
1985
We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.