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In the last decade a high frequency of other congenital anomalies has been reported in infants with congenital hypothyroidism (CH) detected by neonatal screening. In the present study the occurrence of additional congenital malformations (CM) in the population of CH infants detected in Italy between 1991 and 1998 (n = 1420) was investigated. In Italy all of the centers in charge of screening, treatment, and follow-up of CH adhere to the Italian National Registry of infants with CH. In this study a high prevalence of additional CM (8.4%), more than 4-fold higher than that reported in the Italian population (1-2%), was found in the population of CH infants. Cardiac anomalies represented the most frequent malformations associated with CH, with a prevalence of 5.5%. However, a significant association between CH and anomalies of nervous system, eyes, and multiple CM was also observed. In conclusion, the significantly higher frequency of extrathyroidal congenital malformations reported in the CH infants than in the general population represents a further argument supporting the role of a genetic component in the etiology of CH. Investigations of the molecular mechanisms underlying developmental events of formation of thyroid and other organs represent critical steps in the knowledge of CH etiology.
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Fukuyama-type congenital muscular dystrophy (FCMD) and laminin-alpha2 deficient congenital muscular dystrophy (MDC1A) are congenital muscular dystrophies (CMDs) and they both are categorized into the same clinical entity of muscular dystrophy as Duchenne muscular dystrophy (DMD). All three disorders share a common etiologic defect in the dystrophin-glycoprotein complex, which connects muscle structural proteins with the extracellular basement membrane. To investigate the pathophysiology of these CMDs, we generated microarray gene expression profiles of skeletal muscle from patients in various clinical stages. Despite diverse pathological changes, the correlation coefficient of overall gene expression among these samples was considerably high. We performed a multi-dimensional statistical analysis, the Distillation, to extract determinant genes that distinguish CMD muscle from normal controls. Up-regulated genes were primarily extracellular matrix (ECM) components, whereas down-regulated genes included structural components of mature muscle. These observations reflect active interstitial fibrosis with less active regeneration of muscle cell components in the CMDs, characteristics that are clearly distinct from those of DMD. Although the severity of fibrosis varied among the specimens tested, ECM gene expression was consistently high without substantial changes through the clinical course. Further, in situ hybridization showed more prominent ECM gene expression on muscle cells than on interstitial tissue cells, suggesting that ECM components are induced by regeneration process rather than by 'dystrophy.' These data imply that the etiology of FCMD and MDC1A differs from that of the chronic phase of classical muscular dystrophy, and the major pathophysiologic change in CMDs might instead result from primary active fibrosis.
BACKGROUND: Common infantile hemangiomas (COMMON) occur in approximately 10% of infants by the age of 1 year, with a female predominance. Some hemangiomas can be fully developed at birth and are thus called congenital hemangiomas (CH). Within this population, two courses have been identified: rapidly involuting CH (RICH) and non-involuting CH (NICH). Little has been reported on the clinical prognosis and imaging features of these entities. OBJECTIVE: To describe the imaging characteristics of two subtypes of CH, i.e. RICH and NICH, and to compare them with COMMON. MATERIALS AND METHODS: We retrospectively gathered data on 26 children presenting with CH, i.e. lesions fully developed at birth. These lesions were divided into two groups according to the clinical course: suspected RICH (n=8) and suspected NICH (n=18). We used US, CT or MRI and angiography to identify the gross anatomy and structure and the vascularization. Imaging findings were compared with the clinical course and pathology results, when available. The imaging findings in these patients were compared retrospectively with those in 26 patients with COMMON randomly chosen from the database of our multidisciplinary clinic. RESULTS: When compared with COMMON imaging characteristics, NICH and RICH had distinctive features on US such as being heterogeneous (72% of NICH and 62.5% of RICH vs 42.3% of COMMON), visible vessels (72% of NICH and 62.5% of RICH vs 15.4% of COMMON), calcifications (17% of NICH and 37.5% of RICH vs no case of COMMON). On CT and/or MRI, we compared imaging features such as well-defined limits (67% of NICH and 60% of RICH vs 100% of COMMON), and fat stranding (29.4% of NICH and RICH vs 7.7% of COMMON). CONCLUSION: Distinctive imaging characteristics are observed in cases of CH with US findings of visible vessels and calcifications statistically significant.
A total of 91 children (68 singletons, 20 twins and three triplets) who were conceived from cryopreserved embryos between 27 December 1989 and 18 January 1994, and 83 normally conceived control children (81 singletons and two twins) of a similar age, sex and social class, were assessed for minor congenital anomalies and major congenital malformations. Their development was assessed using the Griffiths Scales of Mental Development. The incidence of minor congenital anomalies (31.9% in the cryopreserved embryo group and 21.7% in the controls) and major congenital malformations (3.3 and 2.4% respectively) in our two groups of children was statistically similar. The relative risk (odds ratio and 95% confidence interval) in the cryopreserved embryo group compared with the controls was 1.7 (0.8, 3.3) for minor congenital anomalies and 1.4 (0.2, 8.5) for major congenital malformations. The minor congenital anomalies were mostly naevi and haemangiomas. The major congenital malformations included Down's syndrome, Beckwith-Wiedemann syndrome and hypophosphataemic rickets in the cryopreserved embryo group and hydronephrosis and gastroschisis in the controls. The Griffiths assessment showed that children from the cryopreserved embryo group and the controls were functioning at a similar level. The mean Griffiths quotient and subquotient values were greater than the standard 100 in children with or without congenital abnormalities. These results in the cryopreserved embryo group are reassuring in that the minor congenital anomaly and major congenital malformation rates were similar to those in normally conceived children of a similar age, sex and social class and their development was not adversely affected by cryopreservation.
OBJECTIVE: To study the prevalence of congenital hypothyroidism in infants with Down's syndrome and to verify whether there is an association with other congenital defects. METHODS: This is a prospective study of 112 Down patients, less than 1 year of age, who attended Songklanagarind Hospital from January 1991 to December 1996. Free T4 and TSH determinations were performed in all Down infants. Information on karyotype, sex, maternal age and other congenital anomalies was collected. RESULTS: Congenital hypothyroidism was detected in 17 patients (15.2%); 3 overt congenital hypothyroidism; 6 persistent compensated hypothyroidism; and 8 transient compensated hypothyroidism. Nine of the 20 patients (45%) with congenital gastrointestinal anomalies had congenital hypothyroidism, while 8 out of 92 patients (8.7%) without congenital gastrointestinal anomalies had congenital hypothyroidism. The odds ratio was 8.59 (95% confidence interval 2.4-31.6; p = 0.0001). CONCLUSION: Congenital hypothyroidism has a relatively high prevalence rate in Down infants and tends to occur in Down patients with gastrointestinal anomalies.
Congenital myopathies and congenital myopathic dystrophies are distinct groups of inherited diseases of muscle, genetically heterogeneous, that manifest in early life or infancy. Congenital myopathic dystrophy is characterized by a dystrophic pattern, whereas no necrotic or degenerative changes are present in congenital myopathies. Much progress has been made in recent years in clarifying the classification of the congenital myopathies. This is a clinically and genetically heterogeneous group of conditions originally classified according to unique morphological changes seen in muscle. Not unlike the later-onset muscular dystrophies, the discovery of the genetic aetiology of many of the congenital myopathies has led to a revamping of how these conditions can now be diagnosed and this should enable physicians to give a more accurate prognosis to patients and their families. New mutations in the ryanodine receptor, slow tropomyosin, troponin T1, actin, and nebulin genes have been described in the last 2 years. Clinical and genetic guidelines for conditions like nemaline rod myopathy and central core disease have been suggested. The notion of minus and surplus protein myopathies has been developed. Several groups of congenital myopathic dystrophy have been identified. In the first category, without intellectual impairment or major structural brain abnormalities, half of the cases are merosin deficient due to mutations of the laminin alpha 2 chain gene. If generally the muscular phenotype is severe, mild allelic variants have been reported with early onset dystrophies and partial merosin deficiency. Among other pure congenital myopathic dystrophies unlinked to the laminin alpha 2 gene, one form has been assigned to chromosome 1q42. In the group of congenital myopathic dystrophies associated with mental retardation and structural brain abnormalities, two main entities are genetically characterized: (1) Fukuyama congenital myopathic dystrophy, affecting the Japanese population, is due to fukutin gene mutations, and (2) the muscle eye brain syndrome assigned to chromosome 1p32-34. In several cases, the gene localization remains unknown.
The Israeli national neonatal screening program for congenital hypothyroidism (CH) was initiated in May 1978. The overall incidence of persistent primary congenital hypothyroidism (PPCH) during the first 10 years of screening was 1:2,950 live births. The purpose of this study was to ascertain the incidence of congenital extrathyroid anomalies (ETAs) among the infants with PPCH and to compare it with the Israeli Birth Defect Monitoring System data. Among 243 PPCH infants on whom adequate data were available, 38 infants (15.6%) had associated congenital anomalies. Fourteen infants had congenital cardiac anomalies (5.8%): VSD (n = 7), PDA (n = 3), PS (n = 2), one mitral insufficiency, and one congenital atrial flutter. Eight children (3.3%) had congenital dislocation of the hip; their M:F ratio was 3:5 similar to the M:F ratio in CH (unlike the ratio in the general population). Some additional anomalies were considerably more common than in the general population. It is reasonable to assume that teratogenic effects active during organogenesis may affect simultaneously many organs, including the developing thyroid, causing a relatively high percentage of CH infants with congenital ETA.
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BACKGROUND: Congenital diaphragmatic hernia, although rare (1 per 2-4,000 births), is associated with high mortality and cost. Opinion regarding the timing of surgical repair has gradually shifted from emergent repair to a policy of stabilization using a variety of ventilatory strategies prior to operation. Whether delayed surgery is beneficial remains controversial. OBJECTIVES: To summarize the available data regarding whether surgical repair in the first 24 hours after birth rather than later than 24 hours of age improves survival to hospital discharge in infants with congenital diaphragmatic hernia who are symptomatic at or immediately after birth. SEARCH STRATEGY: Search of Medline (1966-1999), Embase (1978-1999) and the Cochrane databases using the terms "congenital diaphragmatic hernia" and "surg*"; citations search, and contact with experts in the field to locate other published and unpublished studies. SELECTION CRITERIA: Studies were eligible for inclusion if they were randomized or quasi-randomized trials that addressed infants with CDH who were symptomatic at or shortly after birth, comparing early (<24 hours) vs late (>24 hours) surgical intervention, and evaluated mortality as the primary outcome. DATA COLLECTION AND ANALYSIS: Data were collected regarding study methods and outcomes including mortality, need for ECMO and duration of ventilation, both from the study reports and from personal communication with investigators. Analysis was performed in accordance with the standards of the Cochrane Neonatal Review Group. MAIN RESULTS: Two trials met the pre-specified inclusion criteria for this review. Both were small trials (total n<90) and neither showed any significant difference between groups in mortality. Meta-analysis was not performed because of significant clinical heterogeneity between the trials. REVIEWER'S CONCLUSIONS: There is no clear support for either immediate (within 24 hours of birth) or delayed (until stabilized) repair of congenital diaphragmatic hernia, but a substantial advantage to either one cannot be ruled out. A large, multicenter randomized trial would be needed to answer this question.
Four hundred and eight siblings, parents, and grandparents of seventy-eight children from the New England area who had congenital dysplasia of the hip were evaluated, by clinical examination and by measurements of the acetabulum on pelvic radiographs, for the signs and sequelae of congenital dysplasia of the hip. Six siblings and four mothers (representing seven of seventy-eight families) had been diagnosed with congenital dysplasia of the hip during childhood. The other ninety-one siblings were asymptomatic and had no radiographic evidence of dysplasia of the hip. In the adults in these families, acetabular coverage (as measured by the center-edge angle of Wiberg) was no different from that in the control subjects. There was no difference between the study group and the control subjects in the prevalence of osteoarthrosis of the hip or of osteoarthrosis that could be considered secondary to congenital dysplasia of the hip. The results indicate that children born to families that have a history of congenital dysplasia of the hip have a greater prevalence of this problem compared with the general population, but also that examinations of the hip in newborns are effective in detecting congenital dysplasia of the hip in such families. The greater prevalence of congenital disease of the hip among the siblings and mothers in these families is consistent with a multifactorial inheritance. The fact that acetabular development in the family members who did not have congenital dysplasia of the hip was no different from that in the control subjects suggests that acetabular dysplasia, rather than being an inherited abnormality, is secondary to subluxation or dislocation.
We report a case of unilateral congenital ptosis which is associated with ocular and systemic congenital malformations including mild microphthalmia, microcornea, cataract, iris and chorioretinal coloboma, ectopic kidney, and ventricular septal defect. An inciting factor, acting during the second month of gestation, may affect the development of the eye, heart, and abdomen and may lead to congenital malformations. Although congenital ptosis rarely presents with ocular and systemic congenital malformations, ophthalmologists should be alert for the possibility of coexisting structural defects. Congenital ptosis is a muscular dystrophy demonstrated by various degrees of muscular degeneration and it may rarely be associated with ocular and systemic congenital malformation. Here, we report a case of congenital ptosis associated with more than one ocular and systemic malformation.
OBJECTIVE: A congenital cholesteatoma arising in the setting of congenital aural atresia is described. This represents the first case reported in the literature. STUDY DESIGN: Case report. SETTING: Tertiary otologic referral center, University of Virginia Health System, Charlottesville, Virginia. PATIENT: Eight-year-old patient with unilateral congenital aural atresia. INTERVENTIONS: Preoperative computer tomographic scanning and surgical atresia repair with removal of cholesteatoma. MAIN OUTCOME MEASURES: Recurrence of cholesteatoma; epithelialized ear canal; hearing improvement. RESULTS: A congenital cholesteatoma located medial to the ossicular mass in a child with congenital aural atresia was removed, with no evidence of recurrent disease at a revision operation 1 year later. Hearing was improved to a speech reception threshold of 25 dB. CONCLUSION: Congenital cholesteatoma can arise medial to the ossicular mass in congenital aural atresia. This finding lends support to the epidermoid rest theory for the cause of congenital cholesteatoma.
OBJECTIVE: To describe the clinical characteristics of intrauterine infection with lymphocytic choriomeningitis (LCM) virus, an uncommonly recognized cause of congenital viral infection. PATIENTS: Three infants born in the midwestern United States in 1994 and 1995 with clinical features and serologic studies consistent with congenital LCM virus infection and cases of congenital infection identified by review of the medical literature between 1955 and 1996. RESULTS: Twenty-six infants with serologically confirmed congenital LCM virus infection were identified. Twenty-two infants were products of term gestations, and birth weights ranged from 2384 to 4400 g (median, 3520 g). Ocular abnormalities, macrocephaly, or microcephaly were the most commonly identified neonatal features. Twenty-one infants (88%) had chorioretinopathy, 10 (43%) had macrocephaly (head circumference >90th percentile) at birth, and 3 (13%) were microcephalic (head circumference <10th percentile). Macrocephaly and hydrocephalus developed postnatally in one of the latter infants. Hydrocephalus or intracranial calcifications were documented in five infants by computed tomography or magnetic resonance imaging. Nine infants (35%) died, and 10 (63%) of the 16 reported survivors had severe neurologic sequelae, consisting of spastic quadriparesis, seizures, visual loss, or mental retardation. One-half of the mothers reported illnesses compatible with LCM virus infection, and 25% reported exposures to rodents during their pregnancies. CONCLUSIONS: These cases suggest that congenital LCM virus infection could be an underrecognized cause of congenital infection among infants born in the United States. Because of the clinical similarities of these congenital infections, cases of congenital LCM virus infection can be confused with infections with cytomegalovirus or Toxoplasma gondii.
BACKGROUND: Universal clinical screening for congenital dislocation of the hip to detect hip instability in neonates was introduced in the UK as a national policy in 1969, but its effectiveness is not known. We aimed to assess the extent to which surgery for congenital dislocation of the hip is the result of a failure of detection through screening or follows non-surgical treatment after detection by screening. METHODS: We established a national orthopaedic surveillance scheme and used routine hospital data for inpatients for 20% of births in the UK (Scotland and the Northern and Wessex regions) to ascertain the number of children aged under 5 years per 1000 livebirths who had received at least one operative procedure for congenital dislocation of the hip from April, 1993, to April, 1994. Estimates of the incidence of operative procedures were adjusted for under-ascertainment by capture-recapture techniques. FINDINGS: The ascertainment-adjusted incidence of a first operative procedure for congenital dislocation of the hip in the UK was 0.78 per 1000 livebirths (95% CI 0.72-0-84). Congenital dislocation of the hip had not been detected by routine screening in 222 (70%) of 318 children reported to the national orthopaedic surveillance scheme. In 112 (35%) children the diagnosis was made primarily as a result of parental concern. 67 (21%) children had previously received non-surgical treatment. In Scotland and the Northern and Wessex regions, 81 cases were notified to the national orthopaedic surveillance scheme, 62 cases were identified only through routine hospital data on inpatients, and an estimated 20 cases were not identified by either source, making a total of 163 cases. Thus, 81 (50%) of these 163 cases were identified by surveillance, 125 (77%) by routine data, and 143 (88%) by both sources. INTERPRETATION: The incidence of a first operative procedure for congenital dislocation of the hip in the UK was similar to that reported before screening was introduced. In most children who received surgery, congenital dislocation of the hip was not detected by screening. Formal evaluation of current and alternative screening policies, including universal primary ultrasound imaging, is needed.
BACKGROUND/AIMS: Congenital ocular anomalies contribute significantly to childhood visual morbidity, with congenital cataract being a major cause of visual impairment throughout the world. As in many other countries, a National Congenital Anomaly System (NCAS) exists in England and Wales to monitor the frequency of ocular and other anomalies in order to identify new public health hazards and inform aetiological research. The aim of this study was to assess level of ascertainment by the NCAS of children with congenital cataract. METHODS: Using independent ophthalmic and paediatric national active surveillance schemes, all infants (< or =1 year) newly diagnosed with congenital and infantile cataract in England and Wales in 1 year from September 1995 were identified. These notifications were compared with those made independently to the NCAS during the same period. The proportion of cases identified by the active surveillance schemes and also notified to the NCAS was determined. RESULTS: 10% (15/149) of eligible children with newly diagnosed congenital or infantile cataract were actually notified to the NCAS. A higher proportion of those diagnosed as neonates (16%, 14/85) than in later infancy (2%, 1/64) was ascertained through the NCAS. There is a need for better verification of notifications and reported information in the NCAS. CONCLUSION: Currently, ascertainment of congenital cataract through the NCAS is low and the system is likely to be insensitive to small but important changes in risk factors for this disorder. This limits its use for monitoring secular and other trends in ocular anomalies. Strategies to improve its future use are discussed, including enhancing the awareness and participation of ophthalmic professionals involved in managing children with anomalies.