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PubMed2004

Myelomeningocele: a Brazilian University Hospital experience.

We analyzed 31 children with myelomeningocele born between July 1990 and July 2000. Follow-up median was 24 months (6-68 months). Only 2 mothers had a known etiologic factor (diabetes mellitus). Twelve had the correct prenatal diagnosis. All children were born at term; 23 by cesarean; 13 had rupture of the membrane. Surgical correction had a 4 days median (1 to 44 days). Lumbosacral lesions were the most frequent (46%). Thirty patients were hydrocephalic, shunt was placed in 27. Meningitis was 4 times more frequent in shunted patients. Seven became epileptic (19.4%). Denver II test showed significant delay in gross motor development. Neurogenic bladder was diagnosed in 12 patients. Congenital clubfoot was the main orthopedic malformation (53%). Six infants died. Nowadays, 17 patients are being followed. A multidisciplinary approach probably helps for a better quality of life.

Age Distribution↗
PubMed2006

Type of oral cleft and mothers' perceptions of care, health status, and outcomes for preadolescent children.

OBJECTIVE: To evaluate the outcomes of care for children by type of oral cleft. DESIGN: Data were collected through structured telephone interviews during 2003 in Iowa with mothers of 2- to 12-year-old children with oral clefts. Interviews with mothers of children with clubfoot and statewide data on Iowa children were used for comparison. PARTICIPANTS: Participants included mothers of children in Iowa born between 1990 and 2000 with nonsyndromic oral clefts. Children were identified by the statewide Iowa Registry for Congenital and Inherited Disorders. MAIN OUTCOME MEASURES: Rating of cleft care, severity of condition, health status, esthetic outcome, speech, and school performance were evaluated by type of oral cleft. RESULTS: Children with cleft lip and palate were most likely to have their clefts rated as very severe. Children with palatal involvement were reported to have a lower health status and were almost twice as likely to be identified as having a special health care need compared with either children with cleft lip or children statewide. Children with cleft lip had more esthetic concerns; children with palatal involvement had the most speech concerns. CONCLUSIONS: Although mothers generally believed their children had received high-quality care, ratings of the children's current health status and outcomes of care varied significantly by type of cleft (cleft lip, cleft palate, and cleft lip and palate). Differences observed in this population-based study support the proposition that cleft type should be considered when examining outcomes of care for children with oral clefts.

Achievement↗
PubMed1976

Congenital pseudarthrosis of the tibia and neurofibromatosis.

On the basis of 21 cases of congenital pseudarthrosis of the tibia, which were radiologically typed and later personally examined, it was found that all cases of the dysplastic type also showed evidence of neurofibromatosis. No evidence of neurofibromatosis was found among the cystic and the clubfoot type of pseudarthroses.

Humans↗
PubMedDate not supplied

Prenatal sonographic diagnosis of focal musculoskeletal anomalies.

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1)]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5)]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2)]; amniotic band syndrome (n=3); and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1)]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2)] were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.

Amniotic Band Syndrome↗
PubMed1996

Bone graft in hindfoot arthrodesis: allograft vs autograft.

From 1990 to 1992, all arthrodeses of the so-called triple joints, combined or isolated and performed by one surgeon, were reviewed to allow a minimum follow up of 18 months from the time of the index procedure. Type of bone graft was selected based on the patients' decision after the risks of each were explained by the surgeon. There were 37 patients undergoing 41 procedures (4 bilateral) including double and triple arthrodesis, as well as isolated subtalar fusions. Twenty-nine of these were performed for either degenerative or posttraumatic arthritis. Ten others were performed for joint incongruity resulting from posterior tibial tendon insufficiency, and the rest for hemiparesis or residual clubfoot. All patients were placed into a routine postoperative regimen of casting, bracing, weight bearing, and therapy. They were evaluated based on subjective complaints, physical examination, and postoperative radiographs. Any patient suspected of having a nonunion underwent a computed tomography scan for confirmation. Overall, 24 patients received allografts and 17 iliac crest grafts. There were four nonunions, three of which utilized banked bone graft, with the only nonunion in the autograft group occurring in a patient following open calcaneus fracture. Of the four nonunions, three opted for revision surgery and the only one to choose allograft again incurred the only recurrent nonunion. There were two infections, one in each group, resulting in prolonged intravenous antibiotic therapy.

Arthrodesis↗
PubMedDate not supplied

Ocular and clinical manifestations of Möbius' syndrome.

PURPOSE: To assess ocular and otorhinolaryngologic manifestations and intellectual ability in patients with Möbius' syndrome. METHODS: Patients with Möbius' syndrome underwent prospective ophthalmic, genetic-clinical, and otorhinolaryngologic examinations as well as psychological evaluation. RESULTS: Sixteen patients with Möbius' syndrome between the ages of 8 months and 10.6 years underwent ocular examination. Esotropia was present in 12 (75%) patients and V-pattern in 8 (50%). Limited abduction was present in 30 (93.8%) eyes, and limited adduction was present in 21 (65.6%) eyes. The most frequent refractive error was compound hyperopic astigmatism (13 [40.6%] eyes). Eleven (68.8%) patients had lagophthalmos and 12 (75%) patients had bilateral epicanthus. Unilateral amblyopia was present in 2 (12.5%) patients. Clubfoot was the most common lower limb defect (7 [43.8%] patients). Cranial nerve impairments included paralysis of 7th nerve in all patients, paralysis of the 12th nerve in 13 patients, and paralysis of the 9th and 10th nerves in 3 patients. Evaluation of intellectual ability showed that 4 (25%) patients had normal intelligence. The mothers of 3 (18.8%) patients used misoprostol during the first trimester of pregnancy. CONCLUSION: Prominent ophthalmic features of Möbius' syndrome in this series were esotropia, V-pattern, abduction limitation, and compound hyperopic astigmatism. Intellectual assessment showed some degree of mental retardation in 75% of patients. Möbius' syndrome is associated with prenatal exposure to misoprostol.

Child↗
PubMed2003

Eagle-Barrett syndrome: occurrence and outcomes.

OBJECTIVE: To examine the occurence and outcomes of African babies born with features of Eagle-Barret syndrome at a tertiary health centre. DESIGN: Case series. SETTING: University Teaching Hospital, Yaounde, Cameroon. SUBJECTS: Patients were identified through a retrospective review of obstetric records of mothers admitted at the centre within the period 1984 to 1996 inclusive. A total of eleven cases were identified over a period of thirteen years. RESULTS: The most prominent associated defects consisted of clubfoot, pulmonary hypoplasia, Potter's facies, imperforate anus and arthrogryposis. None of our patients survived the perinatal period. CONCLUSION: Our study indicates the need for the establishment of a prenatal and cytogenetic infrastructure in Cameroon to enhance early detection of congenital malformation and chromosomal aberrations. In the meantime, early detection of foetuses with Eagle-Barret syndrome using ultrasound could facilitate timely institutions of antenatal management options and lead to favourable birth outcomes of affected babies.

Abnormalities, Multiple↗
PubMed2005

Adult cavovarus foot.

Cavovarus foot deformity, which often results from an imbalance of muscle forces, is commonly caused by hereditary motor sensory neuropathies. Other causes are cerebral palsy, cerebral injury (stroke), anterior horn cell disease (spinal root injury), talar neck injury, and residual clubfoot. In cavovarus foot deformity, the relatively strong peroneus longus and tibialis posterior muscles cause a hindfoot varus and forefoot valgus (pronated) position. Hindfoot varus causes overload of the lateral border of the foot, resulting in ankle instability, peroneal tendinitis, and stress fracture. Degenerative arthritic changes can develop in overloaded joints. Gait examination allows appropriate planning of tendon transfers to correct stance and swing-phase deficits. Inspection of the forefoot and hindfoot positions determines the need for soft-tissue release and osteotomy. The Coleman block test is invaluable for assessing the cause of hindfoot varus. Prolonged use of orthoses or supportive footwear can result in muscle imbalance, causing increasing deformity and irreversible damage to tendons and joints. Rebalancing tendons is an early priority to prevent unsalvageable deterioration of the foot. Muscle imbalance can be corrected by tendon transfer, corrective osteotomy, and fusion. Fixed bony deformity can be addressed by fusion and osteotomy.

Adult↗
PubMed1992

Tissue expansion as an alternative to skin grafting for closure of skin deficits.

Recent advances in the technical aspects of tissue expanders for closure of skin deficits have led to an overall reduction in the high rate of complications typically associated with their usage. The authors provide a review of the recent refinements in the technique of the tissue expansion process. A discussion of current and future applications using this technique in the treatment of various lower extremity pathologies, including clubfoot, is presented. A case report on the use of a subcutaneous tissue expander for the treatment of a failed skin graft of the medial ankle is included.

Adult↗
PubMed1999

[Conservative treatment of neurogenic foot deformities].

The lack of muscle control in neurological disorders often leads to deformities of the foot. The equinus (a contracture of the triceps surae muscle), the abduction and clubfoot deformity are the most common ones. The present paper describes the deformities and stresses the functional relevance for the patient. Therapeutic principles of the conservative orthopaedic means are described with special emphasis on the need of an adequate height of the aide and the foot position. Casting and the application of Botulinun toxine are described having a major side effect of muscle weakening. A combination of the different procedures, surgical interventions included, need to be selected for each patient offering the best management for each individual problem.

Adolescent↗
PubMed1999

[Cloacal exstrophy, ultrasonic diagnosis].

This study aims to underline the importance of transvaginal ultrasonography in the first three months of pregnancy. The authors report a case which was referred to their attention for preliminary tests performed prior to amniocentesis, recommended by the general physician because of the mother's age. The primapara woman and father of the fetus were healthy and the family history excluded hereditary diseases or congenital pathologies. Transvaginal ultrasonography permitted the diagnosis at the start of the fourth month of pregnancy of a polymalformed fetus with cloacal exstrophy, sacral myelomeningocele, clubfoot, single umbilical artery. In this case, the mother decided to undergo eugenic abortion in view of the severity of the pathology.

Cloaca↗
PubMedDate not supplied

Musculoskeletal abnormalities in velocardiofacial syndrome.

This is the first case report detailing the musculoskeletal pathology and treatment ramifications associated with velocardiofacial syndrome. Orthopaedic manifestations include scoliosis, clubfoot, Sprengel's deformity, generalized ligamentous laxity that is especially problematic about the knee, and epiphyseal dysplasia that is most notable in the lateral humeral condyle, lateral femoral condyle, and femoral head.

Abnormalities, Multiple↗
PubMed2000

Prenatal exposure to valproic acid during pregnancy and limb deficiencies: a case-control study.

We conducted a case-control study using data from the Spanish Collaborative Study of Congenital Malformations (ECEMC) on the relationship between prenatal exposure to valproic acid (VPA) and the presence of limb deficiencies in newborn infants. Among a total of 22,294 consecutive malformed infants (once we excluded genetic syndromes) and 21,937 control infants with specified data on antiepileptic drugs during gestation, 57 malformed infants and 10 control infants were exposed to VPA during the first trimester of pregnancy. Of the total of malformed infants exposed to VPA, 36.8% (21/57) presented with congenital limb defects of different types (including overlapping digits, talipes, clubfoot, clinodactyly, arachnodactyly, hip dislocation, pre- and postaxial polydactyly, etc.), three of them having limb deficiencies. The result of the case-control analysis shows a risk for limb deficiencies of odds ratio = 6.17 [confidence interval (CI) 1.28-29.66, P = 0.023], after controlling for potential confounder factors. If we consider that in our population the prevalence at birth of this type of defect is 6.88 per 10,000 livebirths (95% CI 6.43-7.36) we can estimate that the risk for women treated with VPA of having a baby with limb deficiencies would be around 0.42%. The limb deficiencies in the three patients exposed to VPA were the following: the first case was a newborn infant with hypoplasia of the left hand, the second patient was a newborn infant with unilateral forearm defect and hypoplastic first metacarpal bone in the left hand, and the third patient presented with short hands with hypoplastic first metacarpal bone, absent and hypoplastic phalanges, retrognathia, facial asymmetry, hypospadias, teleangiectatic angioma in skull, and hypotonia.

Anticonvulsants↗
PubMed2000

Studies of the mechanism of amniotic sac puncture-induced limb abnormalities in mice.

The principal advantage of chorionic villus sampling (cvs) over amniocentesis for the determination of the genetic constitution of the embryo is that it may be undertaken earlier in pregnancy. If carried out too early in pregnancy, it has the risk of inducing craniofacial and limb abnormalities, a condition termed the oromandibulofacial limb hypogenesis (OMFL) syndrome in genetically normal infants. It is believed that the defects observed have a vascular origin, possibly due to anoxia of tissues due to fetal blood loss or thrombus formation at the site of biopsy with distal embolization. We believe that this does not adequately explain the findings from the experimental animal literature involving amniotic sac puncture (ASP). Based on these experimental findings, we have hypothesised that (i) the defects observed following cvs may result from the consequences of oligohydramnios following the inadvertent puncturing of the amniotic sac during this procedure, and (ii) that cleft palate and the postural limb defects observed (e.g., clubfoot and clubhand) are secondary to embryonic/fetal compression. Our experimental studies shed new light on the mechanism of induction of the limb defects seen, but particularly syndactyly. Evidence of hypoperfusion of the peripheral part of the developing limb bud is observed, which interferes with apoptosis that occurs in the digital interzones, or induces an abnormal degree of cellular proliferation and/or tissue regeneration in these sites, possibly because of over-expression of critical genes involved in limb pattern specification. Cleft palate, tail abnormalities and abnormalities of sternal ossification are also observed in our model.

Amniocentesis↗
PubMed2000

Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.

AIM: Longitudinal assessment of clinical and neurophysiological abnormalities in childhood and adolescence and incidence analysis of tandem Charcot-Marie-Tooth disease type 1A gene duplication in Croatian children with Charcot-Marie-Tooth type 1 neuropathy. METHODS: Eight Croatian children with Charcot-Marie-Tooth type 1 neuropathy, aged 4-19 years, were studied clinically, neurophysiologically, and neuropathologically during 1-11 years of follow-up. All children were examined at least once, and in 4 children the measurements were repeated. Molecular genetic analysis was performed in all patients and their family members in order to determine the presence of the Charcot-Marie-Tooth disease type 1A duplication on chromosome 17p11.2-p12, using restriction fragment length polymorphic and short tandem repeat markers. RESULTS: Clubfoot was the most frequently observed clinical feature in children under 10 years of age, whereas muscle hypotrophy, scoliosis, and contractures developed in the second decade of life. All patients showed decreased motor nerve conduction velocity (7-30 m/s) and prolonged distal motor latencies on the first and follow-up examinations. Compound muscle action potential amplitude reduction (0.1-1.25 mV) was recorded in the first and second decade of life. In 6 out of 8 children, molecular genetic studies demonstrated the presence of the 1.5 megabase tandem Charcot-Marie-Tooth disease type 1A duplication in 17p11.2-p12, mostly of paternal origin. CONCLUSION: Pronounced neurographic abnormalities and mild clinical features characterize Charcot-Marie-Tooth type 1 neuropathy in the first decade. There were no significant differences in neurographic abnormalities in the first or second decade of life between Croatian children with and without Charcot-Marie-Tooth type 1A duplication.

Adolescent↗
PubMed1975

Congenital malformations in twins: epidemiologic survey.

Among 1195 twins born in the Collaborative Perinatal Project, for whom information was available, 219 (18.33%) were found to have malformations, 179 (14.98%) single and 40 (3.35%) multiple. The frequency of malformations and malformed individuals was significantly higher in twins than in singletons from the same population but the difference was entirely contributed by MZ twins. This held true for both major and minor malformations. There was no significant difference in the frequency of multiple malformations. Negro twins were more frequently malformed than white, and male twins were more frequently malformed than female. Twins had a significant, more than two-fold, increase of cardiovascular and alimentary tract malformations, and smaller increases of central nervous system, musculoskeletal, ear, and respiratory malformations over singletons. Significantly increased among specific malformations were macrocephaly, encephalocele, cleft lip and palate, anomalies of the diaphragm, cardiac septal defects, tracheoesophageal fistula, malformations of the alimentary tract, inguinal and umbilical hernias, and cystic kidney. A significant increase of malformations in twins over singletons occurred only in live births who survived to one year. There was a small but not significant increase of malformations in twin fetal deaths and deaths beyond the neonatal period; but among neonatal deaths, twins were less frequently malformed than singletons. Monoamniotic twins had higher mortality, more complications of delivery, and significantly more congenital malformations than diamniotic twins. One of the 9 pairs of MA twins in the study was a conjoined thoracopagus twin pair with multiple cardiovascular, alimentary, and other malformations. The case is interesting because of the medical history of the mother before and during pregnancy, and its possible bearing on the cause of MZ twinning and of congenital malformations. There was no difference in the frequency of malformations among first- and second-born twins. Concordance rates were significantly higher among MZ than among DZ twins for any malformation as well as for the categories of major, minor, single and multiple malformations. In the majority of cases, the twins were concordant for the same malformation. Concordance rates of MZ twins were consistently higher than those of DZ for all systems, but the difference was significant only for the musculoskeletal system, comprising mostly clubfoot. Because of the small numbers involved, the results of the concordance analysis should be interpreted with caution.

Amnion↗
PubMedDate not supplied

Opening wedge osteotomy of the medial cuneiform before age 4 years in the treatment of forefoot adduction.

Thirty-seven feet in 25 children (12 girls, 13 boys) treated surgically with medial cuneiform opening wedge osteotomy to correct forefoot adduction were assessed. Thirteen patients had unilateral deformity. Primary diagnoses were congenital clubfoot (33 feet), congenital forefoot adduction (3 feet), and skewfoot (1 foot). All children underwent operation before age 4 years. The age at operation ranged from 21 to 47 months (mean 35). In 18 feet, allografts were used. In 5 feet, autograft was used. In 14 feet, ceramic material was inserted as opening wedge. Follow-up ranged from 3 to 8 years (mean 4). In four feet, the ossification center of the medial cuneiform was invisible. The correction of the deformity was assessed clinically and radiographically. The first ray angle and talo-first metatarsal angle were evaluated on anteroposterior radiographs, the latter was evaluated on lateral radiographs, also. In 26 feet, normal position of the forefoot was achieved. In five feet, overgrowth of the medial cuneiform in comparison with the normal side was observed. Forefoot adduction persisted in six feet. The ossification center was often divided into two parts by bone graft, and subsequent independent growth of both parts was observed. This technique is safe and useful for correction of forefoot adduction in young children. It can be performed even in cartilaginous bone. The osteotomy causes overgrowth of the medial cuneiform and the medial ray.

Casts, Surgical↗
PubMed2002

[The importance of predicted risk factors in developmental hip dysplasia: an ultrasonographic screening program].

OBJECTIVES: To evaluate the role of the risk factors in the diagnosis of developmental hip dysplasia (DDH) by ultrasonographic screening. METHODS: The hips of 327 newborns (151 females, 176 males) with identifiable risk factors including family history (n=20), congenital muscular torticollis (n=19), oligohydramniosis (n=2), breech presentation (n=51), multiple gestation (n=6), pes calcaneovalgus (n=74), clubfoot (n=152), and postural metatarsus adductus (n=3) were examined clinically on the first day of life and by ultrasonography within two weeks after birth. The hips were evaluated according to the Graf method. RESULTS: Clinical examination of 239 newborns were normal. Of these, sonographic abnormalities were found in 15 newborns (6.3%). On the other hand, out of 88 newborns who were found clinically abnormal, ultrasonography findings were normal in 24 cases (27%). According to the Graf method, of 654 hips, 550 were type 1, 81 were type 2a, 15 were type 2c, five were type D, two were type 3a, and one was type 4. Treatment was required for only 19 infants (5.8%), four of whom had been found normal on clinical examination. CONCLUSION: Our data suggest that risk factors are important for early diagnosis of DDH, and that, due to detection of abnormal ultrasonography findings among newborns who had been found normal on clinical examination, screening of all newborns with ultrasonography seems to be essential regardless of the presence of any risk factors.

Female↗