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Two children born to the same mother but two different fathers have brachydactyly in which the proximal phalanges of all the digits are shortened. The mother's hands are normal. The same condition occurring in two half-siblings born to a non-affected mother suggests that the brachydactyly may be...
Six families with arthrogryposis (congenital contractures) inherited in an X-linked recessive manner are reported. Family histories from a study of over 350 patients with congenital contractures of the joints (arthrogryposis) were reviewed and of these, three probands had family histories...
The deletion of 4q31→qter is associated with a recognizable “4q- syndrome”. It has been proposed that the much rarer deletion 4q33→qter causes a milder phenotypic expression of the 4q- syndrome. We present the second case, the first male, with the latter deletion and compare his clinical...
Two brothers with oesophageal atresia as part of the VATER association are described, the first such report of sibling recurrence with the VATER association.
Nocturnal intragastric feeding of patients with certain hepatic forms of glycogen storage disease has been advocated as an effective treatment, resulting in improved blood chemical values and linear growth. We are reporting the long-term follow-up of five patients with glycogen storage disease;...
We describe a new case of partial deletion of the long arm of the X chromosome, found in a 24-year-old female with secondary amenorrhea; the karyotype of the proposita is 46, X, del(X)(q22). We take this opportunity to review the previously published descriptions of non-mosaic structural...
Holt-Oram syndrome is an autosomal dominant disorder with variable expression. From a review of published pedigree data and of a family reported here, we have found that penetrance is 100 % if appropriate studies, including wrist radiographs, are performed. There does not appear to be a...
Two families are described in which a balanced translocation producing partial trisomy 7p is segregating. Comparison is made of the phenotype produced by this aneuploidy with other cases in the literature and contrasted with that produced by partial deletion of 7p.
A woman with apparently classic phenylketonuria (PKU) was treated from the sixth week of her pregnancy with a diet restricted in phenylalanine and supplemented with tyrosine. Serum phenylalanine levels were monitored weekly and documented good patient compliance. A female infant was born who was...
An anterior twin with trisomy 21 at the time of amniocentesis was posterior at the termination of the pregnancy. Reversal of position must be considered in twin fetuses discordant for a genetic disorder.
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