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[An angiographic study of congenital hand anomalies (author's transl)].

Accurate knowledge of the arterial variations of the anomalous hand is of considerable practical importance not only in the process of reconstructive surgery in hand anomalies but also in the consideration of the classification and the developmental stage of these defects. Between 1970 and 1980, we have performed an angiography on 102 anomalous hands of 97 patients at the Department of Orthopaedic Surgery, Nagoya University Branch Hospital. They consist of 28 cases of polydactyly, 25 of syndactyly, 14 of cleft hand, 13 of radial ray deficiency, 6 of ulnar ray deficiency, 6 of congenital constriction band syndrome, 5 of brachysyndactyly, 3 of macrodactyly and 1 each of monodactyly and aberrant muscle of the forearm. High origin of the radial artery was encountered in 11 out of 95 hands (11.6 per cent). In 5 out of 11 hands, an incomplete volar arch was found. The median artery entered into the formation of the superficial volar arch in about 20 per cent of cases. It occurred most frequently in radial ray deficiency (Table 1). An unusual division and course of the artery in the forearm occurred in 5 hands. The developmental disorders of the radial artery were encountered in 19 of the 102 hands (18.6 per cent). Especially, they were observed frequently in radial ray deficiency, and represented an occurrence in 84.6 per cent of these deficits (Table 2). The superficial volar arch was absent in about 25 per cent of cases. This arterial pattern was seen frequently in cleft hand and syndactyly (Table 3). In 30 of the 39 cases of syndactylism, the common digital artery bifurcated into the proper digital artery much further distally than normal. The digital arterial patterns of the duplicated thumb could be divided into 4 types (Fig. 3). The arterial patterns of cleft hand were quite different from those with radial ray deficiency, but were rather similar to those of syndactyly. The arterial patterns of ulnar ray deficiency tended to fall into two groups: those with the developmental disorders of the radial artery and those without them.

Adolescent↗

[Systematic study of limb anomalies in a population of 35,600 consecutive newborn infants].

During the surveillance of a consecutive sample of 35.600 liveborn infants in an urban hospital, limb anomalies were specially analysed. Polydactyly (28 cases), syndactyly (14 cases) and absence deformities (20 cases) looked not rare. No specific human teratogen have been recognized but this epidemiologic study is still in progress. The effect of chronic exposure to volatile anesthesics in operating rooms is evoked in two ectrodactylies.

Arm↗

Autosomal trisomy 18 and 13 syndromes in Ibadan, Nigeria.

The clinical, cytogenetic, dermatoglyphic and autopsy findings in 14 cases of trisomy 18 as well as in seven cases of trisomy 13 seen in the Paediatric Department of University College Hospital (UCH), Ibadan, Nigeria, from 1972 to 1981 are presented. The incidence was 0.12 and 0.08 per 1000 livebirths for trisomies 18 and 13 respectively. All the patients were of regular trisomies except two; one case was mosaic for trisomy 18 and another case of trisomy 13 seemed to have derived an extra chromosome of the D group from a reciprocal D/D translocation that was maternally carried. Both syndromes have certain physical features in common which sometimes made clinical diagnosis difficult, but each had diagnostic features of its own. While the combination of microcephaly, cleft lip and/or palate, microphthalmos, capillary haemangioma and polydactyly form the hallmark of trisomy 13, the presence of prominent occipit, micrognathia, clenched fist together with protruding heel make the appearance of trisomy 18 unmistakable. The prognosis in both syndromes is poor and those who survive beyond infancy exhibit severe mental retardation. It is therefore important to establish the diagnosis early so as to conserve limited resources in an attempt to prolong the lives of neonates with these syndromes.

Abnormalities, Multiple↗

VACTERL-association.

The so-called 89 VACTERL cases i.e. three or more combinations of vertebral abnormalities (V), anal atresia (A), cardial abnormalities (C), tracheo-oesophageal fistula and/or oesophageal atresia (TE), renal agenesis and dysplasia (R), limb defect (mainly radial-type reduction or polydactyly) (L) were evaluated in the material of the Hungarian Congenital Malformation Register, 1970-1980. The separation of true VACTERL cases (without other major congenital abnormalities) and mixed VACTERL cases (with other major congenital abnormalities) seemed to be necessary. The latter may be a manifestation of several recognized syndromes. The VACTERL-association, i.e. three or more closely defined VACTERL-type abnormalities without other major abnormalities may, however, present a distinct congenital abnormality entity because (i) the combination of VACTERL-type abnormalities is much higher than the expected one, (ii) the majority of cases could not be identified as other multiple congenital abnormality entities and (iii) it has some epidemiological characteristics (e.g. male preponderance).

Abnormalities, Multiple↗

[Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)].

The McKusick-Dungy-Kaufman syndrome is characterized by hydrometrocolpos, polydactyly and congenital heart disease. Two of these 3 main symptoms should be present for the diagnosis. Associated anomalies are mainly found in the urogenital tract, the gastro-intestinal tract and the skeletal system. On the basis of 2 patients and the literature the clinical features and the genetic aspects of this syndrome are reviewed. The clinical variability and the severity of the syndrome are stressed. Evidence for an autosomal recessive inheritance is given. Because of the clinical variability it seems preferable to use the term complex rather than syndrome.

Abnormalities, Multiple↗

[Studies on the pharmacological bases of fetal toxicity of drugs. III. Fetal toxicity of potassium nitrate in 2 generations of rats].

The fetal toxicity of potassium nitrate (KNO3) used widely as a food additive was studied in Wistar rats. The pregnant rats were fed a diet containing 2.5, 0.5 or 0.1% of KNO3 from day 7 to 14 of pregnancy. Neither maternal nor fetal toxicity including external malformations were observed at term in any group. After spontaneous delivery, the offspring were reared until 13 weeks after birth. No harmful effects were detected in any group. The female offspring (F1) of all groups were mated with the male (F1) of the same group. Good reproductive performances were shown in all groups. The pregnant rats were fed the same diet, which their mothers (F0) had been fed, from day 7 to 14 of pregnancy. Various types of malformations such as exencephaly, cleft lip and palate, polydactyly and micro- or anophthalmia were observed in 6 of 133 fetuses and 7 of 63 newborns from dams treated with 2.5% KNO3, but no external malformations were observed in other groups. The male offspring (F2) of the treated groups showed slow growth until 13 weeks after birth. These results suggest that a dose of 2.5% KNO3 is toxic to the F2 generation, but not to the F1 generation.

Abnormalities, Drug-Induced↗

Common birth defects in South African Blacks.

The prevalence rates of some of the common birth defects have been ascertained in a Black population in South Africa. The births of 29,633 infants were studied retrospectively from hospital records. The commonest defect was found to be polydactyly (10,4/1,000 births), and the other defects investigated were talipes equinovarus (1,55/1000 births), hydrocephalus (1,3/1,000 births), spina bifida and anencephaly (0,78 and 0,40/1,000 births respectively) and facial clefts (0,30/1,000 births). These rates were compared with those found in other population groups in South Africa and, in some cases, in other African countries and in Negro groups in the USA and Canada.

Black or African American↗

A population study of the VACTERL association: evidence for its etiologic heterogeneity.

Using the population-based data from the Metropolitan Atlanta Congenital Defects Program, the interrelation of the six defects that are components of the VACTERL association were investigated. There were 400 cases with two or more of these defects, whereas only 29 cases would be expected if the defects had occurred together randomly. There were 76 cases with three or more defects, whereas less than one case was expected. Of these 76 cases, seven had recognized causes (five chromosomal anomalies, two single-gene disorders); another 19 had recognized clinical phenotypes or syndromes of unknown etiology. In the remaining 50 cases, ventricular septal defect was the most common cardiovascular defect (30.0%), and renal agenesis was the most common renal anomaly (30%). Their most common limb defects were reduction deformities (34%) and polydactyly (20%). This study confirms the clinically recognized nonrandom occurrence of the VACTERL association. It also shows that the association is a spectrum of various combinations of its components, which can be a manifestation of several recognized disorders, rather than a distinct anatomic or etiologic entity. A common denominator of the VACTERL association is suggested to be a defective mesodermal development during embryogenesis, due to a variety of causes and leading to overlapping manifestations.

Abnormalities, Multiple↗

Nonimmunologic hydrops fetalis. A study of ten cases.

Ten cases of hydrops fetalis not associated with serologic incompatibility between mother and infant were studied by autopsy. Classic trisomy 21 was present in two, and in six others the postmortem examination revealed major congenital abnormalities (hydrometrocolpos-polydactyly syndrome, achondrogenesis type 2, congenital adenomatoid malformation of the lung, and aortic valvular dysplasia with left ventricular endocardial fibroelastosis). In two instances, anasarca was associated with a congenital tumor: a sacrococcygeal teratoma and an adrenal neuroblastoma. In six fetuses, prenatal diagnosis of hydrops fetalis or severe congenital malformations was established by ultrasonography.

Abnormalities, Multiple↗

[Prenatal diagnosis of Meckel-Gruber's syndrome by ultrasound (author's transl(].

The article reports on the ultrasonographic diagnosis of a Meckel-Gruber's syndrome in the 17th week of pregnancy. This malformation syndrome is characterized by the triad: encephalocele, polycystic kidneys, and polydactyly. This congenital disease is compared with malformation syndromes which are distinguishable by differential diagnosis, such as Potter's renofacial syndrome. Thorough ultrasonic examination will be able to detect the severe renal changes as well as the neural tube defects associated with Meckel-Gruber's syndrome. Further diagnostic aids for detecting neural tube defects are, in the first place, the alpha-fetoprotein values obtained from the serum of the mother and/or the amniotic fluid, as well as the determination of acetyl cholinesterase.

Adult↗

Azathioprine teratogenicity: review of the literature and case report.

An infant born with preaxial polydactyly to a mother taking azathioprine throughout pregnancy is described. Experimental studies in animals reveal a teratogenic role for azathioprine and its main metabolite, 6-mercaptopurine. The skeletal system appears to be the primary tissue target for such action of these drugs. Although no direct cause-effect relationship can be established from the single case presented, the similarity of this anomaly to experimental azathioprine teratogenesis suggests the necessity for further surveillance.

Abnormalities, Drug-Induced↗

[Meckel syndrome. Difficulties in prenatal diagnosis caused by variability of expression (observations on two families)].

The Meckel syndrome is inherited as an autosomal recessive monogenic trait. It associates abnormalities of the neural tube (encephalo or occipital meningocele more seldom hydrocephaly) and of the extremities (post axial polydactyly) with multicystic dysplasic kidneys. When diagnosed in a conception product, it allows one's to provide an appropriate genetic counseling as well as an early and followed-up surveillance of the next pregnancies in the affected sibship. Taking the example of two families, the authors emphasize the difficulties in diagnosing this affection (mainly due to its various expressions) and the various methods available for its pre-natal detection.

Abnormalities, Multiple↗

The role of morphogenetic cell death during abnormal limb-bud outgrowth in mice heterozygous for the dominant mutation Hemimelia-extra toe (Hmx).

A dominant mutation in the mouse, Hemimelia-extra toe (Hmx), induces congenital limb malformations in heterozygotes. Typical expression includes axial shortening of the radius, tibia and talus ('hemimelia'), with supernumerary metacarpals, metatarsals, and digits ('polydactyly'). Pathogenesis was investigated during developmental stages 16 through 22 (11th through 15th days of gestation). Full expression was apparent during stage 20 when the limb pattern was comprised of pre-cartilaginous anlagen. Formation of a pre-axial protrusion on the autopod during stage 17 or 18 was the earliest gross abnormality, and foreshadowed the development of supernumerary digits. Microscopically, there was an alteration in the pattern of physiologic cellular degeneration (PCD) programmed to occur within the zeugopod and autopod. The 'opaque patch' (mesodermal necrotic zone normally occurring between tibial and fibular anlagen) was overextended pre-axially causing resorption of the tibial precartilage. Additionally, PCD normally occurring within the basal cell layer of the apical ectodermal ridge (AER) and the 'foyer primaire préaxial' was not expressed in the mutant autopod. This occurred in association with outgrowth of the protrusion. The pre-axial portion of the AER remained in an abnormally thickened, viable, proliferative state, and did not undergo scheduled degression. This may have been the basis for prolonged induction of pre-axial outgrowth. Paucity of mesenchymal cell filopodial processes extended along the basal lamina, as well as a rarefaction of the filamentous material normally associated with the mesodermal face of the basal lamina, was detected at the pre-axial AER-mesenchymal interface on stage 18. A potential involvement of epithelial-mesenchymal interactions in the induction of epithelial PCD is discussed.

Animals↗

Chondroectodernal dysplasia in an African child: a case report.

Chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by short extremities, short stature, polydactyly, and nail hypoplasia. Dental abnormalities, congenital heart defects, and thoracic abnormalities impending respiration are seen in many patients. Virtually all previous reports of the classic disorder have been in Caucasians. In the following case report, chondroectodermal dysplasia is described in a black Cameroonian infant.

Ellis-Van Creveld Syndrome↗

Effect of diphenylguanidine on development of mouse fetuses.

In this investigation of the effects of diphenylguanidine (DPG) on pregnancy and fetuses, pregnant mice of the ICR-JCL strain were given dPG orally in a 0.5 percent carboxymethyl cellulose suspension in doses of 0.25, 1.0, 4.0, or 10.0 mg/kg of body weight/day throughout pregnancy. Control mice were fed the vehicle alone. On day 18 of pregnancy, all mice were killed and the fetuses were examined. Disturbances in implantation were seen in the mothers treated with 10 mg/kg/day (the highest dose) of DPG. Retarded ossification of the talus was seen in the fetuses of mothers treated with 4.0 mg/kg/day, but there was no dose-response relationship to this finding. Although malformations such as open eyelids or polydactyly were seen sporadically, these were categorized as spontaneous anomalies. Thus, DPG seems to have no detrimental effects on the development of mouse fetuses in doses of 4 mg/kg or less.

Abnormalities, Drug-Induced↗

[Moebius syndrome : one case (author's transl)].

The Moebius syndrome is a congenital anomaly characterized by paralysis of the sixth and seventh nerves. In some instances, there may be weakness of the adductors. The other muscles are normal. Visual acuity is not affected. Other congenital defects may be associated: polydactyly, defects of the ear and of the tongue. Etiology is probably an embryonal egression, cause of aplasia of the facial and abducens nucleï. The impossibility to move the eyes laterally in either direction, points to supranucleus involvement by defective development of the medial longitudinal fasciculus. Some people suggest that a myogen disturbance should be the principal and unique etiology. No evolution. No treatment.

Abducens Nerve↗

[Hand dermatoglyphics in patients with isolated triphalangia and Holt-Oram syndrome].

A comparative analysis of dermatoglyphic prints of patients with the Holt-Oram syndrome and isolated triphalangeal thumbs was performed with control dermatoglyphics. A specific feature of the syndrome is a change in the main palmar lines and their termination on the radial border of the hand not only in the absence of the thumb but also in the case of formation of the abortive xT-line, its radiants, and the axial triradius. This trait may be considered diagnostic for the Holt-Oram syndrome. Cases of triphalangeal thumbs with preaxial polydactyly do not reveal significant changes in dermatoglyphic patterns and appear to result from partial duplication of the thumb. An isolated triphalangeal thumb may be the result of an atavistic development of homeotic transformation of the thumb.

Dermatoglyphics↗

Congenital isolated absence of pulmonary valve in a neonate with partial trisomy 13q.

A term female newborn with partial trisomy 13q [46,XX, -18, +der(18) t(13;18) (13qter-->13q22:: 18q23--> 18pter) pat], is described with unbalanced translocation and isolated absence of the pulmonary valve. The clinical manifestations included hypertelorism, corneal opacification, high arch palate, rocker-bottom feet, polydactyly (both hands and feet), respiratory distress and intractable congestive heart failure. Echocardiogram showed isolated absent pulmonary valve. This consents report such a combination in partial chromosome 13 trisomy.

Abnormalities, Multiple↗