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PubMed1990

Nonimmune hydrops fetalis associated with genetic abnormalities.

The purpose of this review of the literature on nonimmune hydrops fetalis was to evaluate whether recent clinicopathologic studies have modified the relative incidence of the different associated conditions and the management of these pregnancies. We found 600 cases of nonimmune hydrops fetalis published since 1982. These cases were reviewed with particular attention to genetic causes and were compared with a literature review of 298 cases published before 1982. The mean gestational age at diagnosis varied from 24-29 weeks in the recent series, compared with 31-33 weeks in the earlier series. Genetically transmitted conditions accounted for more than 35% of the fetal and maternal disorders associated with nonimmune hydrops fetalis in the recent series, compared with 21% before 1982. The most frequently identified genetic abnormalities in our review were chromosomal disorders (15.7%), alpha-thalassemia (10.3%), skeletal dysplasia (4%), arthrogryposis multiplex syndromes (1.8%), multiple pterygium syndrome (1.5%), and lysosomal storage disorders (1.0%). These results confirm the need for systematic chromosome analysis in fetuses with nonimmune hydrops. From this review, we conclude that prenatal noninvasive and invasive techniques combined with detailed pathologic studies have improved the accuracy of diagnosis of the underlying causes of nonimmune hydrops fetalis and have influenced the management of these pregnancies.

Bone Diseases, Developmental↗

PubMed1989

Triploidy (117,XXX) in a stillborn canine pup conceived with frozen semen.

Analysis of skin fibroblast cultures from a deformed stillborn female Alaskan Malamute pup revealed a 3n = 117,XXX (normal, 2n = 78,XX) chromosome count. The triploid pup was delivered by cesarean section 5 days after estimated date of parturition, because the bitch failed to start labor. The bitch had been inseminated with thawed frozen semen deposited into the lumen of the uterus approximately 4 days after ovulation. Gross anatomic abnormalities of the pup included omphalocele, diaphragmatic hernia, persistent right aortic arch, atresia ani, and no right forelimb distal to the scapula. The pup also had arthrogryposis of the left carpus, kyphosis of the thoracic vertebrae, widely separated cranial sutures, open fontanelles, hydrocephalus, and cleft palate. Suspected cause of the triploidy was dispermy of an aged oocyte after intrauterine deposition of the thawed frozen semen. Numeric chromosome abnormalities may be causes of fetal deformity or death that can be detected by fetal karyotype.

Animals↗

PubMed1989

Congenital musculoskeletal malformations in neonates.

A total of 13321 consecutive live births were studied for the incidence of congenital musculoskeletal malformations (CMSM) in neonates in relation to mother's age, parity, social class, sex and birth weight of the child. In all, 64 CMSM were observed in 54 neonates (4.054 per thousand live births). Congenital talipes equinovarus was the commonest CMSM while polydactyly and arthrogryposis were the next common CMSM in order of frequency. CMSM were more commonly seen in lower socio-economic class and in low birth weight babies.

Adolescent↗

PubMed1989

[Myasthenia and pregnancy: a clinical and immunologic study of 42 cases (21 neonatal myasthenia cases)].

Forty-two pregnancies in 39 myasthenic mothers were studied between 1978 and 1987. In 4 cases myasthenia gravis began during pregnancy and for 20 patients the clinical condition exacerbated in 15 cases, usually during the first 3 months, or during the postpartum. Except for 1 case, clinical exacerbation was controlled by anticholinesterase drug adjustment. Obstetrical problems were uncommon: abortion in 1 case and premature delivery in 4 cases. In 2 babies with severe fetal involvement polyhydramnios was present. Twenty-one babies had neonatal myasthenia gravis (NMG). In 17 cases, transient symptoms were present at delivery or shortly afterwards and full recovery occurred from a few days to 4 months. In 4 babies the clinical presentation was atypical: 1 showed a long evolution (15 months) and residual facial bilateral weakness, and three others presented fetal involvement (arthrogryposis). In these latter cases, presentation was severe with polyhydramnios, respiratory failure and long standing evolution in 2 cases (4 months and 1 year). Antiacetylcholine receptor antibodies (anti-AChR Ab) were found in all myasthenic babies and in 19 out of 20 asymptomatic babies. Maternal antibody titers were usually slightly higher than umbilical cord titers. There was a good correlation between maternal titer and onset or severity of disorder in baby. Among the 15 high titer mothers (greater than 60 nM), 13 had a myasthenic baby, 6 of them with serious disease. Conversely all low titer mothers (less than 10 nM) had a symptom-free baby. Therefore, anti-AChR Ab titration in the mother is predictive for NMG onset. Mother's myasthenia gravis severity and treatment were not correlated to the clinical condition of the newborns.

Acetylcholine↗

PubMed1988

Pathogenetic analysis of certain developmental and genetic ectodermal defects.

It is postulated that, in the nevoid basal cell carcinoma syndrome, independent mosaic pleiotropic action of the mutant gene on morphogenesis and histogenesis produces primary malformations of midline and nonmidline structures and dysplasias more or less highly predisposed to cancer development. However, in focal dermal hypoplasia and the Bartsocas-Papas syndrome, it is highly tempting to postulate that embryonic dysplasias, ie, breakdown or necrosis of ectoderm, especially in the region of the Ekdodermring, are responsible for the production of many of the congenital anomalies seen in these patients, and that these anomalies more likely represent sequences rather than primary malformations. The sequences in the type 1 fetal epidermal dysplasias probably represent mucosal breakdown, producing various upper gut atresias and an epidermal "disease" with loss of epidermis and many severe secondary consequences. Polyhydramnios, micrognathia, "arthrogryposis," reduced fetal growth, and short umbilical cord are other consequences of fetal hypokinesia due to stiff skin in the type 2 fetal epidermal dysplasias, with severe muscle involvement in the Hutterite-Mennonite type possibly responsible for additional fetal hypokinesia. Thus it seems likely that embryonic and fetal dysplasias can now be held responsible, directly and indirectly, for a fascinating variety of human congenital anomalies.

Basal Cell Nevus Syndrome↗

PubMed1988

Congenital muscular dystrophies.

The congenital muscular dystrophies are a group of genetic myopathies characterized by hypotonia, weakness, or arthrogryposis at birth. Classification is inadequate and based entirely upon phenotypic expression, because a genetic marker has not been identified in any of these disorders. Some have only muscle disease, whereas others have cerebral disturbances (hypomyelination and/or disturbances of neuronal migration) as well. Ocular malformation may also be present. The outcome is variable, and it is difficult to provide an accurate prognosis soon after birth.

Humans↗

PubMed1988

Neisseria gonorrhoeae foot abscess. A case report.

A cutaneous abscess involving Neisseria gonorrhoeae is extremely rare outside the perineum. Such remote lesions are a result of disseminated gonococcal disease. A 12-year-old girl with arthrogryposis multiplex congenita developed a gonococcal abscess on the plantar aspect of her lateral forefoot after a two-week prodrome of pain, erythema, and swelling. The infection was successfully treated with open drainage, acetic acid dressing changes, and the administration of penicillin.

Abscess↗

PubMed1986

The hand-foot-uterus syndrome: a case study.

An autosomal dominant syndrome is described in 26 members of six generations in a single family. Distal extremity malformations are characteristic and superficially resemble those of arthrogryposis, chondroectodermal dysplasia, Cornelia de Lange syndrome, Faconi's anemia or Holt-Oram syndrome. There is an absence of spinal deformity, and females of the disorder have duplication of the genital tract.

Abnormalities, Multiple↗

PubMed1986

[Ehlers-Danlos syndrome--clinico-pathology and orthopedic treatment].

Eight cases of Ehlers-Danlos syndrome (EDS) were surveyed for clinical manifestations and orthopaedic treatment. Cases of EDS were clinically subdivided into three groups. The first group was characterized by multiple congenital contractures in the extremities, so that it was very difficult to distinguish it from arthrogryposis multiplex congenita in early infancy. Since laxity of the soft tissue coexists with contracture in this group, over-correction of deformity caused much more disability than under-correction, especially in clubfoot. Care should therefore be taken to avoid this. The third group was characterized by marked laxity of the soft tissue from birth. Diagnosis in this group was easily made by the obvious triad of EDS. Lengthy immobilization in an appropriate position was necessary to maintain a corrected position for the treatment of any deformity in the hip, foot or hand. In the second group, deformity and disability were clinically so mild that no orthopaedic management was generally required.

Child, Preschool↗

PubMed1985

Congenital skeletal malformations induced by maternal ingestion of Conium maculatum (poison hemlock) in newborn pigs.

Skeletal malformations were induced in newborn pigs from gilts fed Conium maculatum seed or plant during gestation days 43 through 53 and 51 through 61. The teratogenic effects in groups dosed during gestation days 43 through 53 were more severe than those in groups dosed during the later period, with many newborn pigs showing arthrogryposis and twisted and malaligned bones in the limbs and with 1 pig showing scoliosis and deformity of the thoracic cage. The pigs born to gilts given C maculatum during gestation days 51 through 61 had excessive flexure primarily in the carpal joints, without scoliosis or bone malalignment in the limbs. The teratogenicity of poison hemlock depends on the alkaloid concentration and content. Based on the data presented, we speculate that gamma-coniceine is the teratogenic alkaloid in the poison hemlock fed to the gilts.

Abnormalities, Drug-Induced↗

PubMed1979

[Dermatoglyphic studies on the congenital hand anomalies (author's transl)].

Dermatoglyphic studies were carried out on the congenital hand anomalies. Clinical materials consisted of 94 cases with hand anomalies and 148 of their normal relatives as a control. An analysis of the dermal ridge patterns was based on "the Memorandum of Dermatoglyphic Nomenclature" described by Penrose. The results were as follows: 1) In hypoplastic fingers, a high incidence of radial loops or arches was noted, which were quite rare in normal fingers. 2) In cases with crooked fingers, a high incidence of simian creases on palms was noticed. 3) In hypoplastic thumbs, higher positions of axial triradii were observed in accordance with the advance of their grades. 4) In cases of cleft hands with the loss of a central digit, a rudimental finger pattern was found on the edge of the cleft. In the absence of two digits in cleft hands, two finger patterns were found locating on either sides of the clefts of the palm. 5) In cases of syndactyly, union of the digital triradii was found on the palm between bases of the two syndactylous fingers. In a case of osseous syndactyly, single finger pattern was observed on the palmar side of the digital phalanges. 6) In congenital amputations of the humerus, rudimental digits or finger nubbins were sometimes found on their stumps. I found whorl patterns on the nubbins, which suggested rudimental finger patterns. 7) In unilateral constriction band syndrome, the finger and palm patterns showed no particular changes except coarse ridges on affected fingers. In macrodactyly, there were normal ridge counts and the increased ridge breadths, which might indicate the anomalies occurring after the stage of formation of finger patterns. 8) In families of the arthrogryposis multiple congenita and camptodactyly, total ridge counts were markedly decreased and the incidence of the arches on fingers was marked increased. Conclusions The studies on dermal ridges on the congenital hand anomalies may give important keys for solving the process and time of occurrence of these anomalies in the early embryonal lives.

Dermatoglyphics↗

PubMedDate not supplied

Congenital vertical talus and its familial occurrence: an analysis of 36 patients.

Thirty-six patients (57 feet) showing congenital vertical talus were treated at the St. Louis Unit of the Shriners Hospital between 1958 and 1978. A high incidence of congenital hip dislocatiom, arthrogryposis, congenital hypoplasia of tibia and CNA disorders was noted as associated abnormalities. These patients are classified in 3 groups: (I) primary isolated form (16 patients); (II) associated form without neurological deficit (12 patients); (III) associated form with neurological deficit (8 patients). Fifty per cent of the patients with primary isolated form had positive family history of foot deformities in their first degree relatives. Familial incidence of congenital vertical talus was observed in 2 families studied. Genetic factors may play an important role in the etiology of the primary isolated form of congenital vertical talus. The current treatment is a one-stage open reduction of the talonavicular dislocation, combined with a posterior release. A subtalar bone block is often imperative to maintain correction. Cast correction alone has never succeeded as the definitive treatment of this condition.

Female↗

PubMed1971

Oculoauriculovertebral dysplasia (Goldenhar's syndrome).

A case of Goldenhar's Syndrome or Oculoauriculovertebral dysplasia in a Ghanaian infant is described. Significant were the additional findings of congenital esophageal atresia and arthrogryposis which have so far not been reported in association with the syndrome.

Abnormalities, Multiple↗

PubMed1984

Congenital ulnar drift and camptodactyly produced by malformation of the retaining ligaments of the skin.

Two digital congenital deformities produced by failure of differentiation of parts of the retaining ligaments of the skin or the retinaculum cutis are named "congenital cutaneous ulnar drift" and "congenital cutaneous multiple camptodactyly," respectively, based on their pathogenesis and clinical characteristics. A classification of the deformities based on the tissues involved is presented which can be useful in determining when and what operative procedures to use for treatment. Types I and II can usually be corrected easily; they differ from Type III deformities, such as camptodactyly of the fifth finger and multiple congenital arthrogryposis, which do not lend themselves well to surgical correction. Surgical correction is indicated early in Type I and Type II cases, particularly when the deformity begins to increase; secondary tendinous, capsule, and bony alterations should be avoided.

Adolescent↗

PubMed1984

[Rigid spine syndrome and its nosological borders. 2 cases].

The rigid spine syndrome is characterized clinically by rigidity due to deficient extensor muscles of the spine (chiefly cervical) and radiologically, by a normal spinal image. Electromyography demonstrates abnormalities suggestive of a myogenic process, and histology shows alterations of muscular fibres. From the case-records of two male patients aged 14 and 15 years respectively, a relationship could be established between various diseases having in common a rigid spine syndrome. These include congenital muscular dystrophias , sequelae of arthrogryposis, Emery - Dreifuss myopathy and myosclerosis .

Adolescent↗

PubMed1978

Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms?

Four perinatally dying infants with multiple congenital malformations, including pulmonary hypoplasia, multiple ankyloses, abnormalities of the face and camptodactyly are presented. The differences both for severity of pulmonary hypoplasia and for the type of associated malformations suggest that this complex of abnormalities is not a single syndrome but a complex of related entities. These entities and some other genetical syndromes may form a "community of malformations" involving facial, skeletal (arthrogryposis, camptodactyly) and placental abnormalities.

Abnormalities, Multiple↗

PubMed1984

Myotonic dystrophy in pregnancy. Prenatal, neonatal and maternal considerations.

Five pregnancies occurred in three women with myotonic dystrophy. Four of the five infants had generalized hypotonia, respiratory failure, swallowing difficulties and arthrogryposis; two of the affected infants died despite intensive treatment. The surviving affected children had a gradual improvement in respiratory and swallowing symptoms but have remained hypotonic and developmentally delayed. The fifth infant was entirely normal. Polyhydramnios was the most constant feature of the affected pregnancies. Three of the four affected fetuses weighed less than 2,500 gm. Other obstetric complications were not prominent. Second-trimester amniocentesis and linkage studies have a role in predicting myotonic dystrophy. Real-time ultrasound can be used in the prenatal diagnosis of neonatal myotonic dystrophy.

Adult↗

PubMed1983

Dorsal bunions in children.

Iatrogenic dorsal bunions in children, observed mostly after operations for post-poliomyelitic paralysis or club foot, have been successfully treated by an operation in which the tendons of the flexor brevis and the abductor and adductor muscles of the hallux are transferred to the neck of the first metatarsal. This is supplemented by removal of the sesamoids, capsulotomy of the metatarsophalangeal joint, and when necessary by arthrodesis or tenodesis of the metatarsophalangeal joint. In seventeen feet treated in this way only one failure, in a patient with arthrogryposis, was recorded.

Adolescent↗