摘要:

AbstractA male fetus with short rib (polydactyly) syndrome, Beemer‐Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, especially of the bones, are described. The differential diagnosis of this entity is discusse

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390302

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy‐Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer‐Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disord

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390303

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report oligohydramnios and renal dysgenesis in one of identical twins, which might have resulted from in utero exposure to early, prolonged high‐dose indomethacin. The proposita was the second of twin girls born at 36 weeks of gestation. Pregnancy was complicated initially by polyhydramnios in both amniotic sacs and premature uterine contraction. After administration of indomethacin and terbutaline from 16 to 30 weeks' gestation, serial prenatal ultrasound examinations ultimately showed oligohydramnios in twin B and resolution of polyhydramnios in twin A. On day 5 twin B developed hematuria, hypertension, renal failure, hyponatremia, hyperkalemia, metabolic acidosis, sodium wasting and severe, transient inability to excrete potassium. Renal sonography showed enlarged, hyperechoic kidneys with almost no corticomedullary differentiation. Renal biopsy revealed immature glomeruli, dilated Bowman's spaces, dilated tubules, and interstitial fibrosis. The liver was histologically normal.Indomethacin may induce oligohydramnios and transient renal insufficiency in humans and renal dysgenesis in fetal monkeys; it might have induced the abnormalities in this patien

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390304

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

年代:1991

数据来源: WILEY

摘要:

AbstractA case of dup(1)(q42 → qter) is reported. A literature review of duplication of the distal third of chromosome 1 with breakpoints at various sites, 1q23, 1q25, 1q32, and 1q42, was undertaken. Clinical similarities and differences based on the size of the duplicated segment and other associated deficiencies are summarize

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390305

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe examined the familial aggregation of lipids [total cholesterol (CH) and triglyceride (TG)] and lipoproteins [high‐density lipoprotein cholesterol (HDL) and low‐density lipoprotein cholesterol (LDL)]in families ascertained through random and nonrandom probands in the Stanford Lipid Research Clinics Family Study. Nonrandom probands were selected because their lipid levels at a prior screening visit exceeded a certain prespecified threshold. The statistical method is based on selection through indirect truncation on a correlated trait (in which the likelihood function is conditioned on the actual event that the proband's value is beyond the threshold). This method allows for estimation of the path model parameters in randomly and nonrandomly ascertained families jointly and separately, thus enabling tests of heterogeneity between the two types of samples. The results suggest that the multifactorial transmission is homogeneous in the random and hyperlipidemic samples for CH. However, the evidence for heterogeneity is moderate for LDL, marked HDL, and mixed for TG. The general pattern of observed results is for somewhat higher genetic heritabilities in the random than nonrandom samples, which is compatible with a higher prevalence in the random sample of certain dyslipoproteinemias associated with nonelevated lipids. Substantial genetic heritability is found for CH, HDL, and LDL, with somewhat lower estimates for TG. Cultural heritability is low but significant for all four traits. Little or no spouse resemblance or nontransmitted shared sibship effects are seen. In contrast to the findings from previous studies, little or no parental cultural transmission is s

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390306

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

年代:1991

数据来源: WILEY

摘要:

AbstractExpert systems have been used in Medicine for many years, but they are usually highly sophisticated and not well integrated into day‐to‐day practice. On the other hand, bibliographic databases suoh as Medline and others are easily accessible and are widely used. We report here the use of OMIM (On‐line Mendelian Inheritance in Man), one of these bibliographic databases, as an expert system in Medical Genetics. The description of 93 syndromes was used as search‐key and the diagnoses proposed by OMIM were analyzed to determine whether the correct diagnosis was among them. The proposed diagnoses were automatically ranked by OMIM from the most probable (weight = 100) to the least probable (weight = 1). OMIM suggested a total of 1538 +/− 692.2 diagnoses per search. In order to deal with a reasonable number of proposed diagnoses, we only considered the diagnoses with a weight of 50 or more. With this limit, OMIM proposed a mean of 37.0 +/− 24.6 diagnoses per case. The overall accuracy was 76%. A correct answer with a perfect weight of 100 was proposed in 29% of the cases. The diagnostic accuracy of OMIM increased linearly when weights lower than 100 were considered. When the rank alone was analyzed, the accuracy of OMIM increased very rapidly from position 1 to 5 with a subsequent almost linear increase. If one only considered the first five proposed diagnoses, the accuracy of OMIM was just above 50%.This study shows that bibliographic databases are not only restricted to the provision of references but could also be used as expert systems and are therefore of great value to medical

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390307

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

年代:1991

数据来源: WILEY

摘要:

AbstractMosaicism for two forms of ring 13 was found in a child with embryonal rhabdomyo‐sarcoma of the bladder, minor anomalies, and developmental delay. Her chromosome constitution was 46, XX, r(13)(p11q34)/46, XX, r del(13)(p11q14). Both cell lines were present in lymphocytes and fibroblasts. The cell line with the smaller ring chromosome predominated in both tissues. The child's manifestations reflect the presence of both cell line

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390308

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

年代:1991

数据来源: WILEY

摘要:

AbstractDeletion of 18q211 was observed in a mentally retarded young man with electrophysiologically demonstrated cone‐rod dystrophy, present since childhood. He had hypogonadism and a central postsynaptic hearing impairment. This is the first case of a chromosome deletion in a patient with a cone‐rod dystrophy.Three patients with more distal deletions on chromosome 18 did not present retinal dystrophies. We suggest that one of the loci for cone‐rod dystrophy may be located on chromosome 18 at q211‐213. Reports of similar findings will be necessary for confirmation of this ass

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390309

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

年代:1991

数据来源: WILEY

摘要:

AbstractDandy‐Walker malformation is an unusual finding in Meckel syndrome, which characteristically presents with encephalocele, polydactyly, and cystic renal disease. We report on a family in which three nonviable brothers had Dandy‐Walker malformations (variant) with associated enlarged cystic dysplastic kidneys and hepatic fibrosis. The consistent segregation of these abnormalities in all three sibs in the absence of polydactyly and encephalocele suggested the possibility of a distinct syndrome. The clinicopathological findings of the disorder are described and discussed in the context of the phenotypic spectrum of Meckel syndr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390310

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

年代:1991

数据来源: WILEY

摘要:

AbstractLog‐linear models can be used to test for pairwise associations and higher order interactions among anatomically distinct birth defects or congenital malformations. A loglinear model, including terms for every possible pairwise association among seven severe and easily detectable congenital malformations, was examined using data on 16,217 infants registered in the Metropolitan Atlanta Congenital Defects Program between 1968 and 1986. The resulting model showed clear patterns of strong association between some congenital malformations and not others, and the presence of 3‐way interaction terms where the association between two malformations depended on the presence of a third. Examining a more parsimonious log‐linear model showed overlapping patterns of pairwise association involving anal‐rectal atresia and omphalocele, anal‐rectal atresia and limb deficiency, and anal‐rectal atresia and tracheaesophageal fistula. A second common pattern involved a triangular cluster with a hierarchical relationship among the three malformations (where there was a strong association between the first and second malformations and between the first and third malformations, but the association between the second and third was only seen in the absence of the first). Three such overlapping triangular clusters were identified from these data: neural tube defects, oral clefts, and omphalocele; neural tube defects, oral clefts, and limb deficiency; and limb deficiency, diaphragmatic hernia, and neural tube defects. Some of these clusters correspond to known associations, but log‐linear models offer a simple and systematic approach to searching for possible associations among anatomically distinct

ISSN:0148-7299    

DOI:10.1002/ajmg.1320390311

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

年代:1991

数据来源: WILEY