Minor Congenital Malformations Research Articles

Dislocation and/or congenital malformation of the shoulder joint. Observations on a Mediaeval skeleton from Denmark

The purpose of this paper is to present a Mediaeval skeleton of an approximately 16 year old boy, which was excavated at a Danish cemetery containing ca. 150 graves. The skeleton reveals several pathologic changes, probably due to congenital malformation. The most intriguing find is seen at both scapulae, and the changes are bilateral symmetric. Both the glenoid cavities are placed posterior but at the normal height of the bone. The joints are almost perpendicular to their normal direction. The size of the glenoid cavities is normal and the shape is rather flat in accordance to the development stage of the skeleton, where the epiphysis of the rim has not yet appeared to form the gently concave fossa as normally seen in adults. Both the surface and the borderlines of the glenoid cavities are, however, more irregular than normally at that age. The position of the joints may be caused by dislocation and/or congenital malformation which is discussed. Due to the shape of the cavities, to the symmetric bilaterality, and to the minor congenital malformations, it is primarily believed to be caused by congenital malformation. Probably the young man was not much affected by the malformation of the shoulder joints, which is indicated by the normal form and size of the humeri and the well-developed muscle attachments of the bones. The claviculae seem shorter and more twisted than normal, which may be caused by a twisting of the scapulae. So the glenoid cavities may have pointed almost in the normal direction in spite of the malformation. Other minor malformations are spina bifida of the atlas and the 5. lumbar vertebra, multiple minor changes of the joints of both feet and malformations of one metatarsal bone in both feet. Agenesi of the praemolars is also seen. Although our study of the literature, we have not succeeded in correlation our finds with any known congenital syndrome, and as far as we know no similar case has been described in clinical observation or in skeletal finds.

Is diabetes mellitus a teratogen or a coteratogen?

The risk of major and minor congenital malformations was compared in the offspring of diabetic (n = 2,639) and nondiabetic (n = 2,144) women who delivered at the Johns Hopkins Hospital in Baltimore, Maryland, between January 1, 1946 and December 31, 1970. In spite of ample power, there was little evidence of an increased malformation risk in offspring born prior to the onset of overt diabetes in the mother. In offspring born after onset, the overall malformation risk was not increased, but severe multi-organ birth defects occurred at approximately twice the control group rate. It is postulated, therefore, that diabetes may act as a coteratogen enhancing the teratogenic effect of other insults but may not itself cause malformations. That some of its effects may be specific is suggested by the especially high risk of vertebral, lower limb, and urogenital defects, a pattern similar to that reported for the caudal dysgenesis syndrome. To better understand the teratogenic effects associated with diabetes, it may be necessary to consider interactions with other factors and to explore the association between maternal diabetes and caudal dysgenesis.

Very low birthweight and normal birthweight infants: A comparison of continuing morbidity

One hundred and forty-eight (95.5%) of 155 consecutive two-year survivors of 227 very low birthweight (VLBW, less than 1501 g) infants and 50 (83.3%) of 60 infants of normal birthweight who were selected at random, all of whom were born at the Royal Women's Hospital, Melbourne from October 1980 to March 1982, were seen at the age of two years. Social, psychological and health data were compared between the groups. The mean Bayley Mental Developmental Index scores of VLBW children were significantly lower; the prevalence of major handicaps and poor growth (height and weight below the 10th percentile), and the number of hospital readmissions, wheezing episodes, major and minor congenital anomalies and postnatally-acquired malformations (for example, abnormally shaped skull) were significantly greater in VLBW children. There was a trend for a greater number of episodes of otitis media, lower respiratory tract infections and surgical procedures per child in VLBW children. Extremely low birthweight children (birthweight less than 1000 g) contributed significantly to this morbidity. Parents of VLBW children perceived significantly more problems with infant vomiting and behavioural disturbances at two years of age. The children of mothers of limited education, or immigrant status and non-fee paying or lower socioeconomic families had lower mean Bayley Mental Developmental Index scores but similar handicap rates and health status in both weight cohorts.

Language development of term and preterm children during the first five years of life.

Language development during the first five years is reported for 114 high-risk preterm children (20 with varying degrees of cerebral palsy) and 97 healthy term children. Most stages of language development occurred at slightly later ages among the neurologically unimpaired preterm children than among those born at term. Preterm children with cerebral palsy were more delayed and had more articulation defects compared with neurologically unimpaired preterm children. Girls were more advanced in early language development and showed less articulation defects than boys. The perinatal optimality score was significantly correlated with the ages at which the stages of language development were reached, and with language performance at five years in preterm children, but much less in term children. Birthweight and gestational age were negatively correlated with language development at all ages. Socio-economic status and birth order had an age-related influences on language development, but no correlation was found with the number of minor congenital malformations.

Congenital asymmetrical crying facies.

Congenital asymmetrical crying facies, a minor congenital anomaly due to hypoplasia or the absence of the depressor muscle of the angle of the mouth (musculus depressor anguli oris), manifests as lower lip asymmetry during crying. In a prospective study of 1,600 neonates born at the J.L.N. Medical College in Ajmer, India, during the period from January 1979 to August 1979, 10 infants (6.3 per 1,000 infants) had asymmetrical crying facies. Two of the 10 affected neonates had congenital heart disease (1 ventricular septal defect; 1 tetralogy of Fallot), compared with three out of 1,590 members of a control group (p < 0.001). Five babies had other minor congenital malformations. Four of the 10 mothers of probands and three of twelve siblings had the same anomaly, suggesting a familial etiologic factor. No noxious obstetric or prenatal factor could be identified. At a follow-up examination (3 to 6 months later), all of the infants showed normal growth and development, although the effects of the anomaly persisted. We suggest that asymmetrical crying facies is a commonly occurring minor congenital malformation, and in its presence, a thorough search for other congenital malformations, especially of the cardiovascular system, should be made.

PHYSICAL CHARACTERISTICS OF 47.XXY BOYS AND 47,XXX GIRLS FOLLOWED FROM BIRTH

Identifying which children with sex chromosome abnormalities are at risk for aberrant development is important. To this end the following were identified at birth: 16 47,XXY (ages 2-12), and 11 47,XXX (ages 5-12) and are being followed with regular examinations. Sibs are intrafamily controls. 47,XXY Boys: a) Mean birth weight at 40 weeks gestation is 3.12 kg. (below the mean for the normal population). b) Heights fall within the normal range compared with siblings and general population. However there is a growth spurt between 3 and 7 years of age. c) Penile size is normal and testicular size in 60% is on the lower limits of normal. d) Head circumferences are within normal range but distribution is skewed to the left. e) The most common minor congenital malformation is clinodactyly (8). 47,XXX Girls: a) Mean birth weight at 40 weeks gestation is 3.09 kg. (below the mean for the normal population), b) Height is within normal limits. c) Head circumferences are all within normal limits with only two above the 50th percentile. d) Common minor congenital malformations are clinodactyly (8) and epicanthic folds (4). These 47,XXY boys have small but normal testes from infancy and an early growth spurt. Both groups have head circumferences less than the 50th percentile. The significance of these results in determining the future development of these children is not yet obvious.

Late sequelae of induced abortion: complications and outcome of pregnancy and labor.

The effects of previous induced abortion on pregnancy, labor and outcome of pregnancy were measured in a prospective study of 11,057 pregnancies to West Jerusalem mothers who were interviewed during pregnancy and who subsequently delivered a single live or stillborn infant. The 752 mothers who reported one or more induced abortions in the past were more likely, at the same interview, to report bleeding in each of the first 3 months of the present pregnancy. They were subsequently less likely to have a normal delivery and more of them needed a manual removal of the placenta or other intervention in the third stage of labor. In births following induced abortions, the relative risk of early neonatal death was doubled, while late neonatal deaths showed a 3- to 4-fold increase. There was a significant increase in the frequency of low birthweight, compared to births in which there was no history of previous abortion. There were increases in major and minor congenital malformations, but no significant changes in stillbirth or post-neonatal death rates, nor in mean birthweight or sex ratio. When the effects of other variables were taken into account, there were no significant changes in frequency following an induced abortion as to: ABO and rhesus isoimmunization, toxemia, hydramnios, premature rupture of membranes, induction of labor, breech or vacuum delivery, cesarean section, breech presentation, placenta previa, placental abruption, cord prolapse, cord anomalies, fetal distress or asphyxia, post-partum hemorrhage.

CHILDREN BORN FROM PREGNANCIES COMPLICATED BY SUBNORMAL OESTRIOL EXCRETION — FIRST YEAR

This paper is the first of a series concerning the follow-up of children whose mothers had subnormal oestriol excretion during pregnancy. The incidences of still births, neonatal deaths, dysmaturity and major and minor congenital malformations were significantly increased in pregnancies complicated by one or more subnormal oestriol value. Growth parameters and developmental progress were measured of 136 infants who attained the age of one year, and it was encouraging to find that no gross departures from normal were observed.

A mentally retarded child with a translocation involving chromosomes 12 and 19.

This report concerns a de novo reciprocal translocation between the long arms of the chromosomes 12 and 19 in a mentally retarded child with bilateral radioulnar synostosis, agenesis of the corpus callosum, and several minor congenital malformations.

Localization of male determining factor on short arm of Y chromosome Case report of a baby with 46, x, t (Yp+;14q‐)

The case of a premature underdeveloped male baby showing an asymmetrical face and minor congenital malformations is presented. The baby expired on the 6th day of life. Chromosome studies by light and fluorescence microscopy showed a translocation between the distal two‐thirds of the No. 14 chromosome and the Y chromosome (46, X, t(Yp+; 14q –)). The karyotypes of the parents were normal. The father's “Y body” was morphologically similar to that of the propositus. The cytogenetic findings are relevant in the light of the present hypothesis that the male sex determining factor is to be found on the short arm of the Y chromosome. The translocation chromosome contained the whole long arm of the Y chromosome, its centromere and the centro‐meric portion of its short arm. This suggests that the male determining factor is located on the centromeric portion of the short arm of the Y chromosome.

Single hit aetiology of human minor congenital malformations unassociated with major congenital malformations.

MINOR birth defects can be defined as anatomical variants which occur at low frequency in the normal population and, as distinguished from major malformations, have no clinical or cosmetic effects per se. Many syndromes associated with major defects such as the trisomies and rubella embryopathy also have a high incidence of minor malformations. Conversely, almost all minor defects which have been studied clinically are known to be more frequent in individuals with major malformations. The latter types of malformations have been shown to cluster in the sense that an individual with a major defect in one organ or system is more likely than an individual chosen at random to have a significant defect elsewhere1. But we have found that minor malformations in individuals without major malformations do not show such a tendency to cluster but rather are independent. Furthermore, our subsequent analysis of published data of other workers which bear on this problem supports this conclusion.

Aberrant Serum Protein Inheritance in a Patient with a Ring D Chromosome

A ring D chromosome was observed in 67% of the peripheral leukocytes from a patient with microcephaly, mental deficiency, micrognathia, protruding nose, and other minor congenital malformations. Chromosomal mosaicism was also evident in the cells from this patient. Approximately 26% of the cells lacked the ring or exhibited random loss of B, C, D, or E group chromosomes. A deficiency of a posttransferrin protein band was observed in the patient. Further tests failed to demonstrate identity of this protein with haptoglobin, transferrin, ceruloplasmin, or the major immunoglobulin groups. The possible causal relationship of a deletion with the deficiency of the serum protein is discussed.

A ring D chromosome and anomalous inheritance of haptoglobin type

A mentally retarded child with minor congenital malformations was found to have a karyotype which included a ring D chromosome. Extensive blood grouping studies of the family indicated that the chromosomally abnormal child did not possess her father's haptoglobin gene. This suggests that the haptoglobin locus might have been lost during formation of the ring chromosome.

De Lange syndrome: The “Amsterdam type” of mental defect with congenital malformation

Symptoms and signs are described of 5 patients whose clinical features correspond closely to the syndrome described by de Lange in 1933 as “typhus degenerativus Amstelodamensis.” The syndrome is characterized by mental retardation associated with a cluster of relatively minor congenital malformations. Peculiar facial features often make it possible to recognize the disease at inspection. Symptomatology and differential diagnosis are discussed. Etiologic factors are still unknown. The significance of the finding of minor karyotypic anomalies remains unclear.