SUMMARY Two brothers with severe and rare lower limb malformations but normal upper limbs are described. Both brothers had glans hypospadias and they died in early infancy. In the first brother the limb malformation was a severe deformity ofthe right foot which was split and of rockerbottom shape with oligosyndactyly. In the second brother the right limb below the knee was more severely deformed while only the toes were involved in the left limb. Details of the clinical and pathological findings are described. The most likely mode ofinheritance ofthis rare syndrome is autosomal recessive or X-linked recessive with variable expressivity.
The high carriage rate of MEFV mutations in at risk populations suggests that they confer a selective advantage, possibly by way of protection from infections. Here, we sought to assess whether this putative protection contributes to longevity, by studying MEFV mutation status in nonagenarians and the association of mutation carriage with life-threatening conditions. DNA samples and a medical history questionnaire were obtained from 200 nonagenarians (>90 years of age), who received medical treatment at a large tertiary hospital in Israel. The prevalence of MEFV mutations in the study group was compared to the known prevalence, by ethnic group, in the Israeli population. The presence of associated diseases in mutation carriers versus noncarriers was compared. The majority of study subjects were females (67.5 %) of Ashkenazi origin (78%). A fifth carried an MEFV mutation, most commonly E148Q (73% of total mutations), followed by V726A (5%). Only the frequency of E148Q in Ashkenazi subjects was found to be higher than expected in the general Ashkenazi population (19.8 vs. 2.6%, p < 0.0001). Cardiac arrhythmias and hypothyroidism were more common in mutation carriers, while no difference was noted, between carriers and noncarriers, in the rates of ischemic heart disease, diabetes, stroke and a wide range of other serious conditions. Our findings suggest that E148Q carriage contributes to longevity in the Ashkenazi population, perhaps by enhancing resistance to infections.
A firstborn newborn female was noticed to have dysplastic folded ears, odd facies, small palpebral fissures, peculiar shape of mouth and nose, clinodactily, broad chest, and short neck. Her karyotype was 46,XX,-22+der(14)t(14;22) (q2l;qll)mat. Her mother was a de novo balanced reciprocal translocation carrier. The infant was the product of the rather rare adjacent 2 form of segregation. Follow-up of the infant to the age of 19 months revealed severe mental retardation. The syndrome of proximal 14 trisomy can be suspected on clinical grounds in the newborn.
A pair of monozygotic female twins with true primary microcephaly is described. The autosomal-recessive nature of the disease is supported by the following: the twins are concordant for the disease; the parents, themselves normal, are related; the reduced skull dimensions were noted at birth; neurologic problems are absent; the karyotype is normal; the gestation and delivery were normal, without any history of influences capable of inducing microcephaly. A detailed dermatoglyphic study is given.
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