Case Report: The Specter of Untreated Congenital Hypothyroidism in Immigrant Families.

Newborn screening has dramatically reduced rates of untreated congenital hypothyroidism (CH). However, in low-income nations where newborn screening programs do not exist, untreated CH remains a significant health and societal challenge. The goal of this report is to alert health care providers about the potential of undiagnosed CH in unscreened immigrant children. We report 3 siblings of Somali descent with CH who started treatment with levothyroxine at age 0.5 years, 7.7 years, and 14.8 years and were followed for 8 years. This case series demonstrates a spectrum of severity, response to treatment, and neurocognitive and growth outcomes depending on the age at treatment initiation. Patient 1, now 22 years old, went undiagnosed for 14.8 years. On diagnosis, his height was -7.5 SDs with a very delayed bone age of -13.5 SDs. His longstanding CH was associated with empty sella syndrome, static encephalopathy, and severe musculoskeletal deformities. Even after treatment, his height (-5.2 SDs) and cognitive deficits remained the most severe of the 3 siblings. Patient 2, diagnosed at 7.7 years, had moderate CH manifestations and thus a relatively intermediate outcome after treatment. Patient 3, who had the earliest diagnosis at 0.5 years, displayed the best response, but continues to have residual global developmental delay. In conclusion, untreated CH remains an important diagnostic consideration among immigrant children.

Amniotic band syndrome (ABS): can something be done during pregnancy in African poor countries? Three cases and review of the literature.

Amniotic band syndrome (ABS) is a fetal congenital malformation, affecting mainly the limbs, but also the craniofacial area and internal organs. Two mains pathogenic mechanisms are proposed in its genesis. Firstly the early amnion rupture (exogenous theory) leading to fibrous bands, which wrap up the fetal body; secondly, the endogenous theory privileges vascular origin, mesoblastic strings not being a causal agent. The authors believe that the second theory explain the occurrence of ABS. The outcome of the disease during pregnancy depends on the gravity of the malformations. Interruption of the pregnancy is usually proposed when diagnosis of severe craniofacial and visceral abnormalities is confirmed. Whereas minor limb defects can be repaired with postnatal surgery. In case of an isolated amniotic band with a constricted limb, in utero lysis of the band can be considered to avoid a natural amputation. In an African country, such treatment is not possible as far as the antenatal diagnosis.

Congenital fibular deficiency.

Congenital fibular deficiency (CFD) is characterized by a wide spectrum of manifestations ranging from mild limb length inequality (LLI) to severe shortening, with foot and ankle deformities and associated anomalies. The etiology of CFD remains unclear. Treatment goals are to achieve normal weight bearing, a functional plantigrade foot, and equal limb length. The recent Birch classification system has been proposed to provide a treatment guide: the functionality of the foot, LLI, and associated anomalies should be taken into account for decision-making. Treatment options include orthosis or epiphysiodesis, Syme or Boyd amputation and prosthetic rehabilitation, limb lengthening procedures, and foot and ankle reconstruction. The outcome of amputation for severe forms of CFD has shown favorable results and fewer complications compared with those of limb lengthening. Nevertheless, advances in the limb lengthening techniques may change our approach to treating patients with CFD and might extend the indications for reconstructive procedures to the treatment of severe LLI and foot deformities.

Congenital bowing of the tibia due to infantile lipofibromatosis corrected with a Taylor Spatial Frame.

Congenital lipofibromatosis is a rare slow growing benign fibrofatty neoplasm presenting in childhood. The case of a boy presenting soon after birth with diffuse lower extremity enlargement associated with a significant tibial deformity is presented. Magnetic resonance imaging and soft tissue biopsy confirmed the diagnosis of lipofibromatosis. The child started having problems with his gait after the age of two. The tibial bowing was corrected gradually using a Taylor Spatial Frame resulting in a good clinical outcome.

Early prenatal exposure to air pollution and its associations with birth defects in a state-wide birth cohort from North Carolina.

BACKGROUND: Few studies have examined the potential relationship between air pollution and birth defects. The objective of this study was to investigate whether maternal exposure to particulate matter (PM2.5 ) and ozone (O3 ) during pregnancy is associated with birth defects among women living throughout North Carolina. METHODS: Information on maternal and infant characteristics was obtained from North Carolina birth certificates and health service data (2003-2005) and linked with information on birth defects from the North Carolina Birth Defects Monitoring Program. The 24-hr PM2.5 and O3 concentrations were estimated using a hierarchical Bayesian model of air pollution generated by combining modeled air pollution predictions from the U.S. Environmental Protection Agency's Community Multi-Scale Air Quality model with air monitor data from the Environmental Protection Agency's Air Quality System. Maternal residence was geocoded and assigned pollutant concentrations averaged over weeks 3 to 8 of gestation. Binomial regression was performed and adjusted for potential confounders. RESULTS: No association was observed between either PM2.5 or O3 concentrations and most birth defects. Positive effect estimates were observed between air pollution and microtia/anotia and lower limb deficiency defects, but the 95% confidence intervals were wide and included the null. CONCLUSION: Overall, this study suggested a possible relationship between air pollution concentration during early pregnancy and certain birth defects (e.g., microtia/anotia, lower limb deficiency defects), although this study did not have the power to detect such an association. The risk for most birth defects does not appear to be affected by ambient air pollution.

Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.

We report on a combination of congenital malformations in a mother and her fetus harboring a heterozygous deletion encompassing the TBX5 and TBX3 genes, which are disease-causing in Holt-Oram and ulnar-mammary syndromes, respectively. This contiguous gene syndrome is reminiscent of Okihiro syndrome and emphasizes the importance of array-CGH as a diagnostic tool in atypical syndromic presentations with intrafamilial variability.

Gait pattern and lower extremity alignment in children with Morquio syndrome.

The gait in children with Morquio syndrome (MPS IV) has not been previously described. We reviewed the charts, gait analysis reports, and radiographs of nine children with no previous lower extremity surgery. Children with MPS IV had a slower walking speed, reduced cadence, and reduced stride length as compared with normal (P<0.05). There was increased knee flexion, genu valgus, and external tibial torsion during stance (P<0.05). Kinetics showed that knee varus moment was increased (P<0.05). There was a strong correlation between genu valgus measured on gait analysis and standing radiographs (r=0.89).

Quantifying the Erlenmeyer flask deformity.

OBJECTIVE: Erlenmeyer flask deformity is a common radiological finding in patients with Gaucher's disease; however, no definition of this deformity exists and the reported prevalence of the deformity varies widely. To devise an easily applied definition of this deformity, we investigated a cohort of knee radiographs in which there was consensus between three experienced radiologists as to the presence or absence of Erlenmeyer flask morphology. METHODS: Using the presence or absence of Erlenmeyer flask morphology as a benchmark, we measured the diameter of the femur at the level of the physeal scar and serially at defined intervals along the metadiaphysis. RESULTS: A measured ratio in excess of 0.57 between the diameter of the femoral shaft 4 cm from the physis to the diameter of the physeal baseline itself on a frontal radiograph of the knee predicted the Erlenmeyer flask deformity with 95.6% sensitivity and 100% specificity in our series of 43 independently diagnosed adults with Gaucher's disease. Application of this method to the distal femur detected the Erlenmeyer flask deformity reproducibly and was simple to carry out. CONCLUSION: Unlike diagnostic assignments based on subjective review, our simple procedure for identifying the modelling deformity is based on robust quantitative measurement: it should facilitate comparative studies between different groups of patients, and may allow more rigorous exploration of the pathogenesis of the complex osseous manifestations of Gaucher's disease to be undertaken.

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.

Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

Limb reconstruction using circular frames in children and adolescents with spina bifida.

We report the outcome of 28 patients with spina bifida who between 1989 and 2006 underwent 43 lower extremity deformity corrections using the Ilizarov technique. The indications were a flexion deformity of the knee in 13 limbs, tibial rotational deformity in 11 and foot deformity in 19. The mean age at operation was 12.3 years (5.2 to 20.6). Patients had a mean of 1.6 previous operations (0 to 5) on the affected limb. The mean duration of treatment with a frame was 9.4 weeks (3 to 26) and the mean follow-up was 4.4 years (1 to 9). There were 12 problems (27.9%), five obstacles (11.6%) and 13 complications (30.2%) in the 43 procedures. Further operations were needed in seven patients. Three knees had significant recurrence of deformity. Two tibiae required further surgery for recurrence. All feet were plantigrade and braceable. We conclude that the Ilizarov technique offers a refreshing approach to the complex lower-limb deformity in spina bifida.

[The evaluation and management of rotational deformity in cerebral palsy]. / Beyin felcinde rotasyonel deformitenin degerlendirilmesi ve tedavisi.

Rotational deformities are common lower extremity abnormalities in children with cerebral palsy, which include intoeing and outtoeing. Intoeing is caused by one of the three types of deformity: increased femoral anteversion, internal tibial torsion, and metatarsus varus, while out-toeing, the less common form, is caused by femoral retroversion and external tibial torsion. An accurate diagnosis should be made with careful physical and radiographic examination.

Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation.

STUDY DESIGN: This is a report of a 12-year-old girl treated surgically for scoliosis associated with bilateral hip dislocation in Larsen syndrome. OBJECTIVE: To describe a rare case of scoliosis associated with Larsen syndrome and bilateral hip dislocation that was treated surgically with follow-up for 15 years. SUMMARY OF BACKGROUND DATA: There are few reports of the long-term follow-up of cases involving surgically treated scoliosis associated with bilaterally dislocated hips. METHODS: The patient's spine showed a right thoracic curve (T5-T12) with a Cobb angle of 77 degrees and did not show pelvic obliquity on an anterior-posterior radiograph film. On the sagittal alignment of her spine, the thoracic spine showed an abnormal lordosis (T5-T12: 19 degrees), and the lumbar spine had a hyperlordosis (L1-S1: 57 degrees) with a large lumbosacral angle (72 degrees ). We performed a posterior spinal fusion between T4 and L2 using Cotrel-Dubousset Instrumentation, anticipating the restoration of normal lumbar and cervical lordosis, as well as thoracic kyphosis. RESULTS: The Cobb angle of thoracic scoliosis improved from 77 degrees to 28 degrees, and a thoracic kyphosis of 12 degrees (T5-T12) was obtained. Subsequently, on the sagittal plane, the lumbosacral angle (sacral anteflexion) decreased from 72 degrees to 52 degrees, comparable to that of patients with hip dislocation, and the lumbar lordotic angle increased from 57 degrees to 66 degrees. The restoration of thoracic kyphosis resulted in an increase of lumbar lordosis and decrease of sacral anteflexion. At the 15-year follow-up,although the thoracic scoliosis (T5-T12) had increased to 36 degrees, good coronal and sagittal balance had been maintained. The patient is asymptomatic in her spine and hip. CONCLUSIONS: A case of scoliosis associated with dislocated hips in a patient with Larsen syndrome was successfully treated with posterior correction surgery. Fusion surgery between T4 and L2 provided an ideal sagittal balance of the total spine, while preserving 4 lumbar mobile segments.

Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios.

Few reports describe incidental prenatal diagnosis of sporadic Larsen syndrome by ultrasound, but none of these discuss coincidental oligohydramnios or an association with fetal growth restriction. A 28-year-old woman had prolonged rupture of membranes causing marked oligohydramnios at 32 weeks gestation in her first pregnancy. Labor was induced by vaginal prostaglandins and oxytocin infusion after dexamethasone administration because of concern about placental abruption. She delivered vaginally a live female infant weighing 1960 g (< 10th percentile) with multiple skeletal malformations and characteristic facies originally suspected as positional. Newborn x-rays, however, established the diagnosis of Larsen syndrome with bilateral dislocations of the hips, knees (genu recurvatum), and ankles (club foot). The neonatal karyotype was 46,XX. Parental examination and family history were unremarkable. The newborn did well with bilateral lower extremities cast. Postnatal diagnosis of Larsen syndrome should be suspected in neonates with multiple skeletal abnormalities following oligohydramnios.

Spinal cord involvement in pygopagus conjoined twins: case report and review of the literature.

INTRODUCTION: Pygopagus conjoined twins are joined at the rump and have union of the gastrointestinal and genitourinary systems as well occasional involvement of neural elements. CASE REPORT: We report a case where the terminal spinal cords were fused, despite which there was only a minor motor deficit in the lower limbs after separation. The pre-operative and intra-operative findings are described and issues of long-term follow-up discussed. DISCUSSION: Seven other cases reported in the literature with varying degrees of involvement of the spinal cord and cauda equina are reviewed.