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At least 595 records · Page 33Linked to original sources
PubMed1979

Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.

We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first cousins. A brother and nephew of the mother also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both X chromosomes to be morphologically normal. The mother had very high plasma CK levels, equivalent to those observed in carriers of the disease. We discuss different hypothetical mechanisms designed to account for the family pedigree.

Biopsy↗
PubMed1985

Severe pseudoachondroplasia with parental consanguinity.

A boy who showed features of the severe form of pseudoachondroplasia, whose parents were first cousins, is reported. Published reports supporting the existence of an autosomal recessive form of this disorder are reviewed.

Achondroplasia↗
PubMed1993

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).

In 1987 Young and Simpson reported a child with hypothyroidism, congenital heart disease, severe mental retardation, and striking facial dysmorphism. Two subsequent reports have described patients sharing some of the features of their case, although in both there were enough discordant features to make it uncertain that the same entity was being described. Here we present a female infant with virtually identical features to Young and Simpson's original case. Her Caucasian parents are first cousins, raising the possibility of autosomal recessive inheritance of this new syndrome.

Abnormalities, Multiple↗
PubMed1993

A syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents.

Leprechaunism is a rare autosomal recessive disorder associated with extreme insulin resistance with paradoxical hypo-glycaemia. It is characterised by prenatal and postnatal growth retardation, reduced subcutaneous tissue, coarse features, acanthosis nigricans, enlarged genitalia, and death in the first year of life. Defects in both the insulin receptor and postreceptor steps of the insulin action pathway have been reported. At the molecular level, several mutations have been described. The patients reported here are from a Yemeni family with a syndrome of insulin resistance similar to leprechaunism in which the parents are second cousins and five of their eight children are affected. However, the phenotypes seem to be less severe than the classical leprechaunism previously described. All the children are alive (oldest 11 years), there is normal subcutaneous tissue, and a normal growth pattern in some of them. It may be that this is a milder type of leprechaunism with a better prognosis, perhaps caused by a different type of mutation from those previously described.

Child↗