摘要:

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 consistent with X‐linked recessive inheritance. Three other families were recognized through correspondence. Three forms of X‐linked recessively inherited arthrogryposis are described: (1)Severe lethal X‐linked arthrogryposiswith severe contractures, scoliosis, chest deformities, hypotonia, and death due to respiratory insufficiency within 3 months of birth (1 family); (2)Moderately severe X‐linked arthrogryposiswith severe contractures, ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence (2 families); and (3)Resolving X‐linked arthrogryposiswith mild to moderate contractures at birth which improve dramatically with time (2 families and 1 spo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00742.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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 significant maternal effect on the severity of expression in affected offsprin

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00743.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00744.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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 inherited as an autosomal dominant disorder with reduced penetra

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00745.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00746.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Two brothers with oesophageal atresia as part of the VATER association are described, the first such report of sibling recurrence with the VATER association.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00747.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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 features to those of other

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00748.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Human Serum Cholinesterase activity and polymorphism at its two gene loci,CHE1andCHE2, were compared in maternal serum from neural tube defect pregnancies, normal pregnancies and a non‐pregnant control group. Variants at theCHE1locus were identified by dibucaine, fluoride and R02 0683 inhibition. TheCHE2phenotype was demonstrated by DISC polyacrylamide gel electrophoresis. Total HSChE activity in the pregnant groups was slightly less than in the control group but there was no difference in activity between the affected and the normal pregnancies. Three variants were identified. All were found in the non‐affected pregnant group. One variant atCHE1was identified, an I phenotype, and two C5+ phenotypes, theCHE2variant. No obvious relationships were found between HSChE activity or a particular genetic variant and NTD prog

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00749.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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; three with type Ia, one with type Ib, and one with type III disease. All had improvement in one or more of the following: linear growth, serum glutamic oxaloacetate transaminase, total lipids, cholesterol, phospholipids, or triglycerides. None had significant improvement in venous CO2, serum lactate or urate. One of the patients in this study died after 1.1 years of treatment, and another patient developed hepatocellular carcinoma after 4.4 years of treatment. Nocturnal intragastric feeding, in conjunction with appropriate daytime feeding, is helpful in the management of patients with glycogen storage disease but response to treatment is variable, and it remains to be determined whether the ultimate prognosis of the diseases can be impro

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00750.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

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 examined at age 8.5 months. Physical examination was notable for a heart murmur suggestive of patent ductus arteriosus. Developmental quotient was normal. It is important to continue to monitor the outcome of pregnancies in women with PKU whose diet is restricted in phenylalanine in an effort to better define risks and to optimize treatment.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb00751.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY