摘要:

AbstractAn increased spontaneous abortion rate has been observed in pregnancies preceding that of fetuses or newborn infants with neural tube defects (NTDs). There are 2 suggested explanations for this observation. One is that a trophoblastic cell rest, remaining from a previous aborted pregnancy, interferes with normal embryogenesis. The second is that the previous lost fetus was affected with NTD. We studied the obstetric history of mothers of newborn infants with NTDs compared to those with other birth defects, in low and high risk groups for NTD (Jew and Bedouins). A significantly higher spontaneous abortion rate (48%) in the preceding pregnancy was found in the NTD group compared to the group with other birth defects (20%). This was especially remarkable for spina bifida cases in the Jewish study population. A significantly higher rate of preceding spontaneous abortion was also found in congenital heart defects (CHD) when compared to other congenital malformations. A hypothesis based on the multifactorial threshold model is put forward to explain these findings. Based on the realization that spontaneous abortion constitutes a high risk factor for NTD and possibly also CHD, we recommend a delay of subsequent pregnancy and periconceptional treatment with folic acid following spontaneous abortion. © 1994 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510203

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS. © 1994 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510204

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe have carried out a follow‐up study of 13 children with Wiedemann‐Beckwith syndrome (WBS) using a standard protocol which included facial anthropometric measurements. We confirm that most patients with WBS do well and that their clinical abnormalities become less apparent with age. We suggest that there is a characteristic neonatal appearance in WBS and that the expected pattern of facial growth generally results in a normal appearance by mid‐ to late childhood. We tentatively propose that there is a distinct facial anthropometric pattern profile in WBS. © 1994 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510205

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

年代:1994

数据来源: WILEY

摘要:

AbstractUsing data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), consisting of 19,039 consecutive malformed infants of unselected pregnancies, we have analyzed the relationship between nongestational maternal diabetes and different groups of congenital anomalies. The total sample of malformed babies was separated into two groups: children of nongestational diabetic mothers, and those of nondiabetic women. Analysis of the proportion of children identified in each group with different types of anomalies allows us to demonstrate that the most characteristic group of congenital anomalies observed in the children of diabetic women belongs to the caudal dysgenesis complex, while congenital heart defects are the most frequent malformations in these children. On the other hand, these children also present a multiple congenital anomalies (MCA) pattern more frequently than those of nondiabetic women. From this study it is also clear that the proportion of blastogenic malformations is higher in the offspring of diabetic mothers. © 1994 Wiley‐Liss, I

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510206

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

年代:1994

数据来源: WILEY

摘要:

AbstractA 40‐year‐old woman presented with pro found muscle weakness resulting in failure to wean from a ventilator and persistent lactic acidosis after having recovered from a pneumonia complicated by adult respiratory distress syndrome, myocardial infarction, renal failure and shock. She had a 28 year history of chronic anemia and exercise intolerance. Anemia and thrombocytopenia persisted after admission. Nonobstructive hypertrophic cardiomyopathy was present. A stroke‐like episode occurred. A mitochondrial myopathy with deficiencies in complexes IV and II was demonstrated, but no DNA defect has yet been found. This patient represents a distinct clinical presentation of a mitochondrial disorder characterized by late onset mitochondrial myopathy, chronic anemia, cardiomyopathy, and lactic acidosis. © 1994 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510207

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe describe the clinical and radiological manifestations of the Jackson‐Weiss syndrome (JWS) in a large South Australian kindred. Radiological abnormalities not previously described in the hands include coned epiphyses, distal and middle phalangeal hypoplasia, and carpal bone malsegmentation. New radiological findings in the feet include coned epiphyses, hallux valgus, phalangeal, tarso‐navicular and calcaneo‐navicular fusions, and uniform absence of metatarsal fusions.Absence of linkage to eight markers along the short arm of chromosome 7 excluded allelism between JWS and Saethre‐Chotzen syndrome at 7p21. No linkage was detected toD5S211, excluding allelism to another recently described cephalosyndactyly syndrome mapping to 5qter. © 1994 Wiley

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510208

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

年代:1994

数据来源: WILEY

摘要:

AbstractOral‐facial‐digital syndrome (OFDS) type VI (Váradi syndrome) is an autosomal recessive trait of orofacial anomalies, cerebellar dysgenesis, and polysyndactyly. Developmental anomalies of the posterior fossa, including cerebellar hypoplasia and variants of the Dandy‐Walker complex, are the most common central nervous system malformations reported in patients with this syndrome. We report hypothalamic hamartoma, supernumerary maxillary incisor, and precocious puberty in a boy with OFDS type VI. We propose that hypothalamic hamartoma is an occasional manifestation of OFDS type VI. © 1994 Wiley‐

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510209

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe describe a compound heterozygous Δ‐F508/Δ‐I507 cystic fibrosis patient. Molecular analysis by polymerase chain reaction (PCR)‐mediated site‐directed mutagenesis showed the 219 bpfragment observed in Δ‐F508 homozygotes. The father showed a Δ‐F508 heterozygous pattern while the mother and sister showed a normal pattern. There were four possibilities to explain these results: a) the patient was a Δ‐F508/Δ‐I507 compound heterozygote, because the Δ‐I507 allele fails to amplify when analyzed with Δ‐F508 primers due to a double mismatch between the primers and template; b) uniparental isodisomy; c) nonmaternity; and d) sample processing mix‐up.We then tested for the Δ‐I507 mutation using specific primers with a single base mismatch, and we found that the patient was in fact a compound heterozygote who inherited the Δ‐F508 mutation from the father and the Δ‐I507 from the mother. We underscore the need to detect this rare deletion in patients showing a Δ‐F508 homozygous pattern when one parent, particularly the father

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510210

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

年代:1994

数据来源: WILEY

摘要:

AbstractWe report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down‐slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3. © 1994 Wiley‐Liss,

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510211

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

年代:1994

数据来源: WILEY

摘要:

AbstractLimb‐body wall complex is a malformation of body and limbs with craniofacial defects. We describe here the epidemiology of this complex using the population‐based registry data in the Kanagawa Birth Defects Monitoring Program during the period 1982–1991. Eleven infants (11/428,599 births) with the complex were ascertained in the study. The incidence and spectrum of the defects observed in our cases were similar to those of other studies. The parental ages in the study group were not significantly different from those in the general population. No teratogenic agents and factors were identified in the present study. Most cases were diagnosed prenatally. © 1994 Wiley‐L

ISSN:0148-7299    

DOI:10.1002/ajmg.1320510212

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

年代:1994

数据来源: WILEY