Limb deficiency defects (LD) occurring among 1,575,904 births in Hungary during 1975-1984 were reviewed. The overall birth prevalence of LD was 1 in 1,816. This paper discusses the nature and distribution of the limb and other defects in the 275 (32%) children who had structural malformations in other systems. Two main forms of classification were used: morphologic and causal. Additional malformations were most commonly seen in infants with amelia, rudimentary limb (RL), radial/tibial (RT), intercalary or central axis (CA) LD and rarely in those with terminal transverse (TT) or ulnar/fibular (UF) defects. Upper limbs (81%) were involved significantly more often than lower limbs (42%) and there were more right-sided defects (83% vs. 71%) due to an excess of right arm involvement especially with radial ray and split hand anomalies. Single limb involvement was relatively common with amelia (88%), UF (82%), RT (50%), and TT (50%) defects. With other LD, multimelic involvement was more characteristic. This was usually symmetric with intercalary and RL defects but asymmetric with CA anomalies and digital deficiencies (DD). From a causal perspective, 17% of cases had genetic disorders, 52% had recognized associations, anomalies, sequences, environmental causes or patterns of unknown origin, and 31% had unknown patterns of malformations. The commonest entities were amnion disruption sequence (16% of cases) and VACTERL association (8%). Both of these disorders showed unusual temporal distribution. As anticipated, patterns of malformations differed with the type of LD. Amelia and digital amputations were often seen with body wall defects, atypical anencephaly or encephalocele, and cleft lip reflecting amnion disruption. Rudimentary limb was seen with anencephaly, omphalocele, renal agenesis, aberrant genitalia, and imperforate anus, reflecting defects of blastogenesis including the cloacal exstrophy and caudal regression sequences and Schisis association. Radial/tibial defects were associated with different patterns depending on whether the limb defects were unilateral or bilateral. Unilateral defects occurred with anomalies suggesting VACTERL association or the facio-auriculo-vertebral anomaly, while bilateral defects occurred more often in genetic or potentially genetic disorders including VACTERL with hydrocephalus. Central axis defects showed three main patterns of association: one reflecting the ectrodactyly-ectodermal dysplasia-clefting syndrome; one with tongue anomalies representing a variant of oro-mandibular-limb (Hanhart) anomaly, and the last with hydronephrosis indicating a group of "acro-renal" syndromes. Strong associations with other anomalies were not seen in the groups with TT, UF, or intercalary defects.
Limb and urinary tract defects have frequently been reported to occur together as components of a single acrorenal field defect or in many multiple malformation syndromes. However, the concordance of such anomalies has rarely been studied on a population basis or the relationships between specific limb and renal defects defined. This paper documents the patterns of acrorenal associations seen in over 1,500,000 infants born in Hungary in 1975-1984. In all, 1 in 1,800 infants had a limb deficiency and 9% of these (75 cases) had a urinary tract anomaly. Urinary tract anomalies were most commonly seen with radial ray defects, micromelia and amelia. The commonest recognized patterns were VACTERL association and the cloacal exstrophy and caudal regression sequences. Chromosomal and single gene defects also occurred. Numerical taxonomic techniques delineated six main clusters of patients. Important groupings included micromelia with renal agenesis, split hand/foot with hydronephrosis, and radial ray anomalies with VACTERL defects. The radial ray groups differed in the nature of the VACTERL anomalies seen and with respect to laterality, symmetry, and non-VACTERL anomalies. There was a strong association of bilateral limb defects with bilateral renal anomalies and unilateral with unilateral. Ipsilateral defects tended to occur in typical VACTERL cases, while contralateral defects tended to occur with additional non VACTERL midline anomalies. Although renal and limb anomalies are associated, in almost all cases malformations in other systems are also present. The precise nature of the malformation patterns seen appear to reflect differences in the nature and magnitude of the underlying dysmorphogenetic processes as well as the timing of their effects.
A population-based and validated data set of 206 cases with apparent amniogenic limb deficiency was ascertained in Hungary between 1975 and 1984. Such limb defects frequently (36%) associated with nonlimb abnormalities. In 134 cases with isolated defects typically more limbs are affected, upper and lower limbs, right and left sides, and both sexes are equally affected. Case-control analysis of such isolated cases indicates a lower socioeconomic status of parents, a higher parity, more frequent unwanted pregnancies, preterm birth, and a higher rate of threatened abortion. Familial occurrence was not found in 415 first-degree relatives.
We read with interest the article by Cobben et al. [19891. Recently we finished the evaluation of the Hungarian population-based ten-year material of 998 cases with congenital limb deficiencies. All survivors and their first-degree relatives were examined personally. The birth prevalence of typical Poland sequence (i.e., ipsilateral symbrachydactyly or other congenital limb deficiency of hand and unilateral absence of pectoralis major muscle) was 0.011 per 1,000 total births in Hungary (1975Hungary ( -1984, thus, one in 87,550 births. Twelve cases with Poland sequence-type symbrachydactyly but without pectoralis major defect were found. These two subgroups together occur at a rate of 0.019 per 1,000 births (one in 52,530). Of course, the absence of pectoralis major muscle without upper limb defect could not be ascertained by this approach. Of 18 typical Polandsequence cases, one was familial: father has absence of left pectoralis major and severe hypoplasia of left thumb with partial syndactyly between second and third fingers, while his son has mild hypoplasia of the left pectoralis major muscle and severe hypoplasia of left thumb (and a mild hypoplasia of right thumb). However, we would prefer a separate pectoralis-radial defect with dominant inheritance (Konig and Lenz, 1983). Our cases have confirmed that the variability of limb and pectoralis major muscle defects is very great within this apparent subclavian artery supply disruption sequence. REFERENCE
A total of 464 children of 323 women registered for alcoholism treatment in Budapest, Hungary, were studied in 1977-1979. A complex epidemiologic investigation was carried out using medical, psychological and anthropological data. The data were evaluated on the basis of a semiquantitative diagnostic scoring system for fetal alcohol syndrome. The score distribution curve for 301 children whose mothers imbibed during pregnancy was statistically significantly different from the score distribution curve for 163 children born to alcoholic mothers who remained abstinent during pregnancy and from the curve for a matched control group of 464 children. A significant difference was also found between the score distribution curves for the latter two groups. Twenty-five children of 301 drinkers (8.3%) scored below -30 points and were said to show typical manifestations of the syndrome. All of the mothers in this group imbibed large amounts of alcohol during pregnancy. A further 205 children of 464 alcoholic mothers (44.2%) scored between -30 and -10 points and were diagnosed as having an atypical form of the syndrome. Among the 205 children, 168 were the offspring of 301 drinkers (55.8%) and 37 were the offspring of 163 alcoholic females who were abstinent during pregnancy (22.7%). A stepwise discriminant analysis showed the best discriminating variables--in order of entry into the discriminant functions--to be current weight, nose-upper lip distance, behavioral disturbance (irritability), root of the nose, intelligence quotient, and palpebral fissure. The most important cause of fetal alcohol syndrome is the direct toxic effect of alcohol on the fetus.
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