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PubMed2004

Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother.

Although most cases of extrahepatic biliary atresia are thought to result from perinatal obliterating inflammation, some are associated with a faulty morphogenesis. The authors report on a baby girl of a mother with ill-managed insulin-dependent diabetes mellitus. The baby presented with sacro-coccygeal agenesis, clubfoot, and ano-urinary incontinence. In addition, there was polysplenia, no inferior vena cava, and the portal vein was grossly distorted. Progressive conjugated hyperbilirubinemia prompted liver biopsy at 4 weeks of age, showing intracanalicular cholestasis without fibrosis. The diagnosis of extrahepatic biliary atresia was confirmed during laparotomy performed for hepatoportojejunostomy. Some cases of extrahepatic biliary atresia might be part of a spectrum of malformations associated with maternal diabetes mellitus.

Abnormalities, Multiple↗
PubMed1996

Triple arthrodesis.

Triple arthrodesis is the surgical fusion of the calcaneocuboid, talonavicular, and talocalcaneal joints of the foot. This is a palliative surgical procedure used to treat many painful hindfoot disorders (eg, clubfoot deformity, arthritis, Charcot's joint disease). Patient benefits include pain relief and improvement in foot function. Several anesthesia options are available for intraoperative and postoperative pain management. Perioperative nurses should be knowledgeable about foot anatomy, the sequence of surgical events, and possible postoperative complications from triple arthrodesis. A systems approach to patient care throughout the perioperative phase can ensure optimal patient outcomes.

Ambulatory Surgical Procedures↗
PubMed1998

Accurate detection of anomalies by routine ultrasonography in an indigent clinic population.

OBJECTIVE: The study's objective was to determine the accuracy of routine ultrasonography in the detection of anomalies in an indigent clinic population by sonographers trained to perform complete anatomic screens. STUDY DESIGN: This is a retrospective study of women undergoing obstetric ultrasonography between 15 and 26 weeks' gestation during an 18-month period. Ultrasonography was performed with an ATL Ultramark 4 (ATL Ultrasound, Bothell, Wash) in the resident clinic by a rotating group of sonographers who each spent 80% of the time performing advanced sonography and 20% screening. Images were reviewed by attending physicians at the end of each day. Abnormalities were followed up with ultrasonography by an attending physician. Obstetric and neonatal charts were reviewed in all cases. RESULTS: There were 901 women scanned (44 others were unavailable for follow-up, and complete data were unavailable in 22 cases). Twenty-one percent of all patients were referred for advanced scans; in half the only indication for referral was an abnormal ultrasonographic result. There were 28 anomalies (3.1%). Anomalies that were undiagnosed were a 5-mm ventricular septal defect, transposition of the great arteries with ventricular septal defect, extralobar sequestration, misshapen ear, clubfoot, imperforate anus, 1 x 1-cm skin-covered meningomyelocele, and an uncharacterized dysmorphic syndrome. The sensitivity, specificity, and negative and positive predictive values of the screening ultrasonography were 71.4%, 99.4%, 99.1%, and 80%, respectively (P < .0001). Of patients in whose fetuses anomalies were detected, 30% elected termination of pregnancy and 1 patient whose fetus had trisomy 18 elected no fetal monitoring in labor, resulting in a stillbirth. Two neonates required surgery and 2 died in the immediate neonatal period. There were 5 suspected anomalies at screening that were excluded by targeted scan. CONCLUSION: Routine screening ultrasonography performed by well-trained sonographers is extremely accurate in the detection of anomalies in an indigent population. It allows women counseling and options that they otherwise might not be offered.

Abortion, Induced↗
PubMedDate not supplied

Unilateral bowing of long bones and multiple congenital anomalies in a child born to a mother with gestational diabetes.

We report on a new-born girl with multiple congenital anomalies consisting of major skeletal anomalies restricted to the left side, cleft palate, ventricular and atrial septal defect, retromicrognathia, short neck, dysplastic low-set ears and large birth weight. The left-side bony anomalies include shortening and bowing of the femur and tibia, hypoplasia of the fibula, hip dislocation, clubfoot and mild shortening of the long tubular bones in the left arm with elbow dislocation. The pregnancy was complicated by insulin-dependent gestational diabetes mellitus in the mother. The radiographic features were not consistent with the diagnosis of campomelic dysplasia, kyphomelic dysplasia or other skeletal dysplasias characterized by bowing and shortening of the long bones. To our knowledge, the multiple congenital anomalies, including major skeletal malformations, present in our case have never been simultaneously reported until now. A maternal diabetes syndrome in this infant is probable. The occurrence of major congenital malformations in offspring of women with gestational diabetes is reviewed and discussed. We provide evidence that gestational diabetes mellitus could be teratogenic. We recommend a careful diabetic control in every woman with a history of gestational diabetes.

Abnormalities, Multiple↗
PubMed1986

Pseudodiastrophic dysplasia: a distinct newborn skeletal dysplasia.

Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of clinical, radiographic, and chondro-osseous histopathologic findings. In addition to the rhizomelic shortening of the limbs and severe clubfoot deformity, which suggest the diagnosis of diastrophic dysplasia, distinguishing features are elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis, which are observed in infancy. This disorder has been reported previously in three infants, all of whom died in the first year of life. Two of these were sisters, suggesting autosomal recessive inheritance. We report four new patients with this distinct skeletal dysplasia, including two children now older than 4 years of age. In both of these patients neonatal contractures have improved with physical therapy and scoliosis has progressed significantly.

Bone Diseases, Developmental↗
PubMed2000

Maternal age and malformations in singleton births.

OBJECTIVE: To examine the effect of maternal age on incidence of nonchromosomal fetal malformations. METHODS: Malformations detected at birth or in the newborn nursery were catalogued prospectively for 102,728 pregnancies, including abortions, stillbirths, and live births, from January 1, 1988 to December 31, 1994. Maternal age was divided into seven epochs. Relative risks (RRs) were used to compare demographic variables and specific malformations. The Mantel-Haenszel chi(2) statistic was used to compare age-specific anomalies. Multiple logistic regression analysis was used to adjust for parity. RESULTS: Abnormal karyotypes were significantly more frequent in older women. After excluding infants with chromosomal abnormalities, the incidence of structurally malformed infants also was increased significantly and progressively in women 25 years of age or older. The additional age-related risk of nonchromosomal malformations was approximately 1% in women 35 years of age or older. The odds ratio for cardiac defects was 3.95 in infants of women 40 years of age or older (95% CI 1.70, 9.17) compared with women aged 20-24 years. The risks of clubfoot and diaphragmatic hernia also increased as maternal age increased. CONCLUSION: Advanced maternal age beyond 25 years was associated with significantly increased risk of fetuses having congenital malformations not caused by aneuploidy.

Adolescent↗
PubMed1989

[Hormonal changes induced by etomidate in children during the first 24 postoperative hours].

The hormonal effects of an etomidate infusion were assessed postoperatively in children undergoing hypospadias or clubfoot repair. The study was carried out in 12 children, aged between 9 and 70 months, randomly assigned to two equal groups. The anaesthetic protocol was identical for all the children, consisting in a light general anaesthesia (halothane induction, intubation after 60 to 80 micrograms.kg-1 vecuronium) combined with lumbar epidural anaesthesia (initial dose of 0.75 ml.kg-1 bupivacaine with adrenaline, with repeat injections of half the previous dose when there was a change in the haemodynamic parameters suggesting inadequate analgesia). Anaesthetic maintenance was different in both groups: 1 to 1.5 vol% enflurane in a nitrous oxide-oxygen mixture (1/1 v/v) in the control group, and 16.8 +/- 3.0 mg.kg-1.min-1 etomidate infusion in the etomidate group. Venous blood samples were collected after induction of anesthesia (before starting the epidural anaesthesia and the etomidate infusion), at the end of surgery (H0), at the 3rd (H3), 6th (H6), 12th (H12) and 24th h (H24) following surgery. The following hormonal blood concentrations were measured: cortisol, 11 beta-desoxycortisol, aldosterone, 11 beta-desoxycorticosterone, dehydroepiandrosterone (DHA) and DHA sulphate (DHA-S). In the control group, cortisol and DHA-S concentrations decreased significantly at H0, aldosterone levels also being significantly lower at H24. In the etomidate group, cortisol concentrations remained significantly lower at H0, H3 and H6; aldosterone concentrations were also significantly lower than control values throughout the study period. There was an important prolonged rise in the concentrations of their precursors. DHA and DHA-S concentrations did not change in the etomidate group.(ABSTRACT TRUNCATED AT 250 WORDS)

Adrenal Cortex Hormones↗
PubMed1990

Syndromology: an updated conceptual overview. VIII. Deformations and disruptions.

A deformation is an abnormal form or position of the body caused by nondisruptive mechanical forces. Clubfoot, congenital hip dislocation, and infantile mandibular asymmetry (not based on mandibular malformation) serve as examples. The musculoskeletal system is involved in almost all deformations. Various disturbances of intrauterine movement are the usual causes and commonly occur during the fetal period. Causes may be mechanical or malformational. The former includes first pregnancies, small maternal size, uterine malformations and tumors, and amnionic rupture leading to oligohydramnios. Malformational causes usually involve the urogenital system and the central nervous system. A disruption is a morphologic defect of an organ, part of an organ, or a larger region of the body resulting from a breakdown of, or interference with, an originally normal developmental process. Amnionic band disruptions with digital amputations serve as an example. The most recent studies of disruptions and their suggested mechanisms are discussed. Finally, the interrelationships between malformations, deformations, and disruptions are explained.

Abnormalities, Severe Teratoid↗
PubMed1998

[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family].

BACKGROUND: Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes. CASE REPORT: A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot. CONCLUSION: Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.

Consanguinity↗
PubMedDate not supplied

Correction of complex foot deformities using the Ilizarov external fixator.

There are many drawbacks to using conventional approaches to the treatment of complex foot deformities, like the increased risk of neurovascular injury, soft-tissue injury, and the shortening of the foot. An alternative approach that can eliminate these problems is the Ilizarov method. In the current study, a total of 23 deformed feet in 22 patients were treated using the Ilizarov method. The etiologic factors were burn contracture, poliomyelitis, neglected and relapsed clubfoot, trauma, gun shot injury, meningitis, and leg-length discrepancy (LLD). The average age of the patients was 18.2 (5-50) years. The mean duration of fixator application was 5.1 (2-14) months. We performed corrections without an osteotomy in nine feet and with an osteotomy in 14 feet. Additional bony corrective procedures included three tibial and one femoral osteotomies for lengthening and deformity correction, and one tibiotalar arthrodesis in five separate extremities. At the time of fixator removal, a plantigrade foot was achieved in 21 of the 23 feet by pressure mat analysis. Compared to preoperative status, gait was subjectively improved in all patients. Follow-up time from surgery averaged 25 months (13-38). Pin-tract problems were observed in all cases. Other complications were toe contractures in two feet, metatarsophalangeal subluxation from flexor tendon contractures in one foot, incomplete osteotomy in one foot, residual deformity in two feet, and recurrence of deformity in one foot. Our results indicate that the Ilizarov method is an effective alternative means of correcting complex foot deformities, especially in feet that previously have undergone surgery.

Adolescent↗
PubMed2001

Distal tibial osteotomies for the treatment of foot and ankle disorders.

Distal tibial osteotomy is an effective treatment for a variety of pediatric and adult foot and ankle disorders. Exposure osteotomies provide access to the tibiotalar joint for such problems as talar body fractures and osteochondral lesions of the talus. The channel osteotomy provides improved access to posterior talar dome lesions, especially for the use of osteochondral autograft. Although technically demanding, the supramalleolar osteotomy can benefit many patients, including patients with residual clubfoot deformity, primary and secondary osteoarthritis, malunion, and physeal arrest.

Ankle Joint↗
PubMed2004

[De novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). Report of a new case].

We report a case of de novo partial duplication of the distal segment of the long arm of chromosome 5 (q31--> qter). The patient showed dysmorphic features (flat face, short and horizontal palpebral fissures, depressed and broad nasal bridge, wide nose with hypoplastic alae nasae, short and flat philtrum, high arched palate, micrognathia, anomalies of the ears), redundant adipose panniculus of the neck, proximal shortening of the limbs, flexion contractures, long and distally widened fingers, bilateral clubfoot, single umbilical artery, hypoplasia of lung and pulmonary arteries, atrial septal defect and patent ductus arteriosus. She died 23 hours after birth from respiratory failure. Chromosome analysis with high resolution GTG bands showed 46,XX,1p1, which was interpreted as a partial duplication of the distal long arm of chromosome 5 (q31--> qter). Fluorescence in situ hybridization analyses with whole chromosome painting technique for chromosome 5 proved that this extra region belonged to chromosome 5. Our case is the first to have a de novo partial duplication of this chromosome segment.

Chromosomes, Human, Pair 5↗
PubMed2004

Attention function after childhood stroke.

We investigated attentional outcome after childhood stroke and orthopedic diagnosis in medical controls. Twenty-nine children with focal stroke lesions and individually matched children with clubfoot or scoliosis were studied with standardized attention and neuroimaging assessments. Stroke lesions were quite varied in location and commonly involved regions implicated in Posner's model of attention networks. Children with stroke lesions performed significantly more poorly regarding attention function compared with controls. Performance on the Starry Night, a test demanding alerting and sensory-orienting but not executive attention function, was significantly associated with lesion size in the alerting and sensory-orienting networks but not the executive attention network. Furthermore, earlier age at lesion acquisition was significantly associated with poorer attention function even when lesion size was controlled. These findings support the theory of dissociable networks of attention and add to evidence from studies of children with diffuse and focal brain damage that early insults are associated with worse long-term outcomes in many domains of neuropsychological function. In addition, these results may provide clues towards the understanding of mechanisms underlying attention in children.

Adolescent↗
PubMed1997

Absence of nitric oxide synthase I despite the presence of the dystrophin complex in human striated muscle.

Recently, it has been shown that in human striated muscle the signalling enzyme, brain-type nitric oxide synthase I (NOS I), is associated with the sarcolemma and complexes with dystrophin and/or members of the dystrophin complex. In order to find out whether there exists a regular association between NOS I and the complex, muscle biopsies from patients with various muscle disorders were analysed by enzyme histochemistry and immunohistochemistry. In patients suffering from Duchenne muscular dystrophy, and to a lesser extent in those with Becker-type dystrophy, NOS I and dystrophin complex components were absent or drastically reduced in the sarcolemma region. In other dystrophies, as well as in metabolic and inflammatory myopathies, NOS I and dystrophin complex constituents were expressed normally, while in the case of neurogenic diseases leading to denervation atrophy and especially congenital idiopathic clubfoot, the immunohistochemical patterns of the distribution of the dystrophin complex constituents were normal, but NOS I activity and protein were deficient or dramatically diminished. The results can be interpreted as indicating that, in general, NOS I targeting to the sarcolemma is dependent on particular members of the dystrophin complex, such as alpha-1 syntrophin, yet the expression and/or positioning of NOS I may be under the control of further factors, probably of neurogenic origin. NOS I-associated diaphorase may thus be a useful complementary tool in the diagnosis of muscle disorders.

Catalysis↗
PubMed2000

Cortical dysgenesis in 2 patients with chromosome 22q11 deletion.

Two patients with chromosome 22q11 deletion and cortical dysgenesis (gyral abnormalities) are reported in this study. One had unilateral clubfoot in addition to multiple features suggestive of the Di George syndrome (DGS), and the other presented with leg asymmetry and seizures, with subsequent recognition of the velo-cardio-facial syndrome (VCFS). In each patient, gyral abnormalities were identified in the hemisphere contralateral to the limb abnormality. A wide range of central nervous system abnormalities have been reported in DGS and VCFS, including three prior reports of gyral abnormalities (lissencephaly, microgyria). The 2 patients reported herein strengthen the association between the 22q11 deletion spectrum and cortical dysgenesis, but the underlying pathogenetic mechanism (primary neural migration vs. vascular disruption) remains unclear.

Adult↗
PubMed2003

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an esophageal atresia and hydrocephaly. Protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. However, DNA analysis of the COL3A1 gene revealed a pathogenic mutation (388G-->T) in both the mother and the son. The possible relationship between the observed congenital anomalies and EDS IV are discussed. We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis.

Collagen Type III↗
PubMed2003

Mobius syndrome: a dental hygiene case study and review of the literature.

Mobius syndrome, a rare, non-progressive, congenital neuromuscular disorder, presents with multiple dental and medical complications. Signs and symptoms of this condition include: congenital, bilateral or unilateral palsies of the facial and abducens cranial nerves (cardinal sign), and a broad scope of multisystem abnormalities, which may or may not include the following: opthalmoplegia externa, lingual palsy, clubfoot, branchial malformation, ptosis, mental retardation, and pectoralis muscle defect. From a dental standpoint, a number of anomalies may manifest, including: multiple congenitally missing teeth (both deciduous and permanent), micrognathia, paralysis and hypoplasia of the tongue, absence of facial expression and weakness of the palate. This article reviews the case study of a 40-year-old male client with Mobius syndrome, dental hygiene diagnosis (DHDx) and intervention, and the dental hygienists' responsibility and role in care.

Adult↗
PubMed2001

The prone position is associated with a decrease in respiratory system compliance in healthy anaesthetized infants.

Ten healthy (ASA I or II) anaesthetized infants undergoing clubfoot surgery were studied. General anaesthesia included rocuronium, nitrous oxide and isoflurane. Volume controlled ventilation (12 ml.kg-1) was delivered via a coaxial Mapleson-D (Bain) system and a Datex AS/3 ventilator. Pulmonary mechanics were measured sequentially in the supine and prone positions using a Bicore CP-100 pulmonary function monitor. Subjects had a mean age of 6 (+/- 2) months and a mean weight of 8.3 (+/- 1.4) kg. Dynamic compliance (CDYN) and static compliance (CSTAT) were both significantly lower in the prone position than in the supine position (P < 0.0005). Mean CDYN decreased from 14.9 +/- 4.9 ml.cmH2O-1 (supine) to 11.6 +/- 3.5 ml.cmH2O-1 (prone). Mean CSTAT decreased from 10.2 +/- 2.8 ml.cmH2O-1 (supine) to 8.9 +/- 2.3 ml.cmH2O-1 (prone). No clinically significant differences in gas exchange were noted, however, on repositioning.

Anesthesia, General↗