摘要:

AbstractThis paper presents the ultrasonographic analysis of the growth of two groups of human fetuses, one longitudinal and the other cross‐sectional. Measurements of all the long bones were taken, as well as measurements of the folowing diameters: Biparietal, occipitofrontal, thoracic and abdominal anterior/posterior and transverse, spinal canal width, arm, forearm, thigh and leg transverse. The bladder and the stomach were also measured. The pregnancies analyzed covered the period between the 8th and 38th week of gestation. Centiles (3rd‐97th) were calculated for each structure and week. All pregnancies known or suspected to be abnormal were removed from the study. The values obtained were tested in 102 pregnancies (test group); the expected values (from the graphs) did not deviate from the values obtained from this group of fetuses, demonstrating the reliability of the values presented in these graphs. All structures measured showed linear growth. There was no significant difference between the longitudinal and cross‐sectional g

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240402

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractShort trunk dwarfism involving skeletal anomalies of vertebrae and ribs have been reported under various names. Both dominant and recessive and severe and mild conditions are found. We report on a patient without a severe handicap by age 3 years despite severe involvement of the thorax at birth, suggesting that a more complete classification of such anomalies is needed for counseling. We have used an objective method to classify 39 informative patients from the literature, 35 said to have a recessive disease and four a dominant one. Two patients with the costovertebral segmentation defect with mesomelia (COVESDEM) syndrome were added for comparison with our patient. The results of cluster analysis show that there are three phenotypic groups of patients. Cluster 1 contains 19 patients with a severe form of spondylothoracic dysplasia; cluster 2 includes patients with a mild autosomal recessive and a dominant type; cluster 3 groups the two sibs with the COVESDEM syndrome and our patient. One must be cautious in advising families of the prognosis for a child with severe structural chest deformity since it may not be severe from a functional point of view. More data are needed for complete discrimination between the mild autosomal recessive and dominant forms.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240403

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractWe report a patient with the Killian/Teschler‐Nicola/Pallister mosaic syndrome in association with a cytogenetic abnormality. This patient is the first reported to have lymphocyte mosaicism for an isochromosome of 12p. All other patients with the Killian syndrome have had normal lymphocyte karyotypes, although mosaicism for a similar isochromosome of 12p has been reported in the fibroblasts of most patients with the Killian syndrom

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240404

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractWe have studied female cousins with partial duplication of 12q. The cousins' mothers (who are sisters) and the maternal grandmother and great grandmother carried a balanced translocation between chromosomes 11 and 12. We have compared our patients with eight other reported cases of partial duplication of the same chromosome segment (12q24→12qter). Placement of the extra material seems to have little effect on the anomalies present; (only two other cases involved chromosome 11). We propose that our patients provide further evidence that duplication of 12q leads to a clinically identifiable syndrom

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240405

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240406

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240407

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractA brother and sister from consecutive pregnancies had rigid and tightly adherent skin in association with generalized contractures, unusual facies, pulmonary hypoplasia, an abnormal placenta, and a short umbilical cord. Both died shortly after birth. Pathologic examination of the skin by light and electron microscopy showed structural abnormalities of the epidermis, dermis, and subcutaneous fat. An abnormal pattern of keratin proteins was determined biochemically using extracted epidermal proteins. Autopsy showed a normal spinal cord and muscle histology. It is postulated that the defective skin severely restricted movement and secondarily led to the other abnormalities. Familial occurrence is most consistent with autosomal recessive transmission. These patients and the primary skin defect are discussed within the framework of the Fetal Akinesia or Hypokinesia Deformation Sequence.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240408

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractDeletions of 3p usually involve the terminal portion (3p25). An interstitial deletion of a proximal 3p segment (3p14) was detected at amniocentesis. The clinical and cytogenetic characteristics of this case and of three previously published cases are reviewed. Cardiovascular and gastrointestinal malformations have not been reported before in association with this particular chromosome abnormality.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240409

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractTwo middle age sisters had most manifestations of the SC phocomelia syndrome including postnatal growth retardation, symmetric limb deficiencies with radial aplasia and absent thumbs, facial anomalies with microcephaly, microphthalmia, hypoplastic nasal alae, and borderline to mild mental retardation. Unusual findings included congenital paralysis of some cranial nerves in both patients and malignant melanoma in the proposita. Cultured lymphocytes from both patients, and skin fibroblasts, Esptein Barr virus‐transformed lymphocytes, and tumor cells from the proposita demonstrated premature separation of centromeric heterochromatin (PCS) of many chromosomes, a finding noted previously in the SC phocomelia syndrome and the similar but more severe Roberts syndrome.Extensive overlap of the phenotypes of the sisters and 15 other patients with either syndrome and PCS confirms that these are either allelic conditions or the same disease—designated Roberts‐SC phocomelia syndrome. The role of PCS in the syndrome(s) remains uncertain since some patients with the characteristic clinical phenotypes are reported to la

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240410

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY

摘要:

AbstractA small‐for‐gestational age white female infant was noted to have multiple minor anomalies and severe jejunal stenosis. Mild peripheral pulmonic stenosis, skeletal anomalies, and cholestasis with paucity of intrahepatic bile ducts were observed, and she was diagnosed as having arteriohepatic dysplasia. Chromosome analysis of peripheral blood leukocytes showed a 46,XX,del(20)(p11.2) chromosome constitut

ISSN:0148-7299    

DOI:10.1002/ajmg.1320240411

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1986

数据来源: WILEY