Abstract
To review experience of early prenatal diagnosis of skeletal dysplasias, and to explore diagnostic accuracy and improve management.
A retrospective review of fetal medicine unit (FMU) records was performed to identify cases where a skeletal dysplasia was suspected by...
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PMID: 21210484
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Abstract
We describe a technique of correction of a severe pouter pigeon breast. Three osteotomies were performed on the sternum, one resecting the curved fused angle of Louis. Multiples chondrotomies allowed to flatten the cartilage part. The reconstruction was firmly hardened with a STRATOS titanium device...
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PMID: 21095298
PDF is available here.
Abstract
To assess the feasibility, safety and results of percutaneous nephrolithotomy (PNL) in ectopically located kidneys and in patients with musculoskeletal deformities.
Thirteen such patients underwent PNL between June 2005 and May 2008. Mean stone size was 27.4 mm (16-37 mm). Six patients had severe ky...
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PMID: 20516664
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Abstract
This study evaluated the prenatal developmental toxicity of the pesticide 2-sec-butyl-4,6-dinitrophenol (dinoseb). Pregnant rats were given dinoseb by gavage at 0, 8.0 or 10 mg/kg bw/day on days 6-15 of gestation, or in the diet at 0, 120 or 200 ppm (0, 6.52 or 8.50 mg/kg bw/day) on days 6-16 of ges...
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PMID: 20132881
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Abstract
We found many amphibians with bizarre appearances, known as malformations in Pingtung County southern Taiwan. For this investigation we collected frogs inhabiting the Kaoping and Tungkang river watersheds between February 2006 and June 2007. Among the total number of 10,909 normal frogs (i.e., anura...
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PMID: 21047008
PDF is available here.
Abstract
Kimmerle's anomaly also known as ponticulus posticus is a common anatomical variation of the atlas, the first cervical vertebra. It is the product of the complete or incomplete ossification of the posterior atlanto-occipital membrane over the vertebral artery groove resulting in the formation of a f...
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PMID: 20374094
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Abstract
Carbamazepine is an antiepileptic drug used widely for the treatment of epileptic seizures and neuropathic pain. Several malformations in humans, mainly neural tube defects, have been reported as a consequence of its use during pregnancy. The association between maternal use of carba...
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PMID: 19895254
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Abstract
We identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. The typical craniofacial dysmorphism included brachycephaly, highly arched...
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PMID: 20018682
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Abstract
We present the case of a young patient with severe congenital musculoskeletal abnormalities. associated with different pathologies, with involvement of the arterial tree on both the systemic and pulmonary circulation, and involvement of the lungs due to thoracic hypoplasia. The presence of such exte...
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PMID: 20690101
PDF is available here.
Abstract
The null hypothesis was rejected. There is an increased prevalence of skull skeletal anomalies and/or normal variants in patients with PDC....
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PMID: 19537879
PDF is available here.
Abstract
We review indications and limitations of bone-mass measurements in children, summarize the endocrine and skeletal abnormalities in patients presenting with Down syndrome, and review studies that investigate therapeutic strategies for such patients....
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PMID: 19421241
PDF is available here.
Abstract
We report a patient with an anomalous LHBT that was adherent to and confluent with the rotator cuff throughout its intra-articular course and present the clinical, magnetic resonance arthrography, and arthroscopic findings....
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PMID: 18193242
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Abstract
Thirty-one patients, 48 ponticulus posticus, complete or partial, bilateral or unilateral, were identified on the 200 cervical 3-D CT scans; therefore, the prevalence was 15.5% in our patient population. In plain radiographs analysis, the prevalence was 6.95%. CONCLUSION: The ponticulus posticus is...
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PMID: 19259347
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Abstract
Child with CMD are at high risk for musculoskeletal deformities of the spine and lower extremities. In our experience, correction and improved function were likely after surgery. LEVEL OF EVIDENCE: Retrospective study; level IV....
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PMID: 19352249
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Abstract
The osteochondrodysplasias, or skeletal dysplasias are a genetically heterogeneous group of over 350 distinct disorders, and many of them can present in the prenatal period as demonstrated by ultrasound. Differentiating these disorders in the prenatal period can be challenging because they are rare...
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PMID: 19265753
PDF is available here.
Abstract
Chest pain and chest wall deformities are common in children. Although most children with chest pain have a benign diagnosis, some have a serious etiology for pain, so the complaint must be addressed carefully. Unfortunately, there are few prospective studies to evaluate this complaint in children....
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PMID: 19135581
PDF is available here.
Abstract
This experience with a new, minimally invasive technique for the treatment of pectus carinatum shows it to be safe and effective. The correction obtained was highly satisfactory with minimal complications. It should be considered in appropriate cases as an alternative to more invasive techniques....
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PMID: 19159728
PDF is available here.
Abstract
Two previous cases have been reported in the Mexican medical literature, both due to de novo genetic mutation. However, none has been associated with portal cavernomatosus degeneration and portal hypertension....
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PMID: 20553648
PDF is available here.
Abstract
We show the control over hydrogel degradation, both in the bulk and locally to cells to control both the distribution of extracellular matrix by cells and whether or not a cell spreads in the hydrogels. These signals are important in the final structure and mechanical properties of engineered tissue...
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PMID: 19963530
PDF is available here.
Abstract
We have generated HYAL2-deficient mice through a conditional Cre-lox system. Hyal2(-/-) mice are viable and fertile. They exhibit localized congenital defects in frontonasal and vertebral bone formation and suffer from mild thrombocytopenia and chronic, possibly intravascular, hemolysis. In addition...
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PMID: 18772348
PDF is available here.
Abstract
We report on a 14-year-old girl with slowly progressive axonal motor neuropathy with conspicuous muscle wasting of hypothenars and calves as well as alacrima. The mutation analysis of the AAAS gene revealed a compound heterozygous mutation: a c.251G>A mutation in exon 2 that had been reported previo...
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PMID: 18628786
PDF is available here.
Abstract
An anatomic variation of the LGN was identified in 16 patients (3.4%). Nine patients had LSAO, and five of these had symptoms referable to or abnormalities of the patella. Seven patients had MAAO, and three of these had chronic nontraumatic knee pain. CONCLUSION: Anatomic variations of the LGN are n...
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PMID: 18839166
PDF is available here.
Abstract
Routine examination of the motor and sensory system was found to be normal. Roentgenogram of the thoracic and lumbosacral spine showed anterior wedging of T6 vertebrae in the lateral view and features suggestive of the presence of a butterfly vertebra at T6 level in the anteroposterior (AP) view. He...
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PMID: 19011533
PDF is available here.
Abstract
ABSTRACT A retrospective study was conducted on the prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980–2003. These states lie in the South-South geopolitical zone of Nigeria. The aim of the study was to determine the percentage of occurrence of birth de...
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PMID: 18983583
PDF is available here.
Abstract
Increased risk of associated malformations in children with clefts must to be highlighted and disseminated to health professionals involved in the management of children with clefts. Routine screening for other malformation, especially cardiac, skeletal, and central nervous system malformations, may...
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PMID: 18848099
PDF is available here.
Abstract
We describe a rare case of aberrant portal vein development with congenital portocaval shunt (end-to-side) in a 3.5-year male child associated with cardiac defects (atrial and ventricular septal defects), skeletal deformities (flexion deformity and clinodactyly of digits and toes), and lichen planus...
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PMID: 18675622
PDF is available here.
Abstract
Reactive pectus carinatum is functionally encumbering and a poor cosmetic complication of either the Ravitch or minimally invasive Nuss procedures. Our experience with reactive pectus carinatum introduces the importance of postoperative vigilance even in patients without underlying fibroelastic dise...
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PMID: 18675637
PDF is available here.
Abstract
We present a rare case of an unusual abnormality of the bilateral lateral meniscus, which was completely separated and duplicated at the midportion, although different from an accessory meniscus, with an anomaly of the anterior horn of the medial meniscus as well as a double-layered medial meniscus....
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PMID: 18442913
PDF is available here.
Abstract
Pectus deformities represent a spectrum of relatively common congenital chest malformations. The adoption of less invasive techniques has renewed interest in surgical repair by both patients and clinicians. The aim of this review is to identify current management, outcomes, and controversy in the tr...
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PMID: 18582826
PDF is available here.
Abstract
We treated 208 patients with pectus carinatum by using a specially designed dynamic compression system (DCS) that uses a custom-made aluminum brace. Recently, an electronic pressure measuring device was added to the brace. Results were evaluated by using a double-blinded subjective scale (1 to 10)....
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PMID: 18582825
PDF is available here.
Abstract
In this largest reported series of PC repair, progressively less extensive open techniques have resulted in low morbidity, mild pain, short hospital stay, and very good physiologic and cosmetic results....
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PMID: 18639675
PDF is available here.
Abstract
We report here, for the first time, a complex congenital malformation with liver eventration because of a right intrathoracic rib and vertebral segmentation disorder of the spine in a 7-year-old girl without respiratory impairment. Diagnostic features and therapy for congenital rib anomalies are des...
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PMID: 18558165
PDF is available here.
Abstract
We selected urinary pyridinium crosslinks (collagen degradation products excreted in urine) as a measure of bone resorption in NF1. Bone resorption was evaluated by quantitative assessment of the urinary excretion of pyridinium crosslinks [pyridinoline (Pyd) and deoxypyridinoline (Dpd)]. Total (free...
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PMID: 18317233
PDF is available here.
Abstract
We treated a patient with multiple congenital joint dislocations and facial dysmorphisms consistent with Larsen syndrome. Sequencing of the FLNB gene resulted in identification of a novel, de novo 508G>C point mutation resulting in substitution of proline for a highly conserved alanine (A170P). This...
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PMID: 18322662
PDF is available here.
Abstract
A child with Spigelian hernia, concomitant multiple skeletal anomalies and whole body hemihypoplasia and fibular aplasia is presented here. Irrespective of the patient's age at presentation, Spigelian hernias associated with anomalies are congenital in origin. This case emphasizes the fact that a bi...
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PMID: 18493901
PDF is available here.
Regina Raz,
Sigmar Stricker,
Elizabetta Gazzerro,
Julie L Clor,
Florian Witte,
Harakiran Nistala,
Stefanie Zabski,
Renata C Pereira,
Lisa Stadmeyer,
Xiangmin Wang,
Lori Gowen,
Mark W Sleeman,
George D Yancopoulos,
Ernesto Canalis,
Stefan Mundlos,
David M Valenzuela and
Aris N Economides
Abstract
Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant brachydactyly type B (BDB, MIM 113000) or recessive Robinow syndrome (RRS, MIM 268310). In an attempt to model B...
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PMID: 18353862
PDF is available here.
Abstract
This study shows that dominant inheritance cannot play a role in the etiology of MRKH syndrome, as no further cases of MRKH syndrome occurred among any of the siblings. The study provides support for the view that the syndrome has a multifactorial pathogenesis. Siblings/relatives of MRKH patients sh...
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PMID: 18321894
PDF is available here.
Abstract
The muscle split technique is a modified surgical approach to the parasternal ribs in patients with pectus carinatum deformity. It helps to maintain pectoralis muscle vascularization and function and can reduce postoperative pain, hospitalization, and rehabilitation period....
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PMID: 18405734
PDF is available here.
Abstract
We found a novel TGFBR2 missense mutation in a patient with features of SGS....
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PMID: 17979970
PDF is available here.
Abstract
We investigated the long-term effects of PA and disuse on the hind limb musculoskeletal histology and topographical organization in the primary somatosensory cortex (S1) of adult rats. Developmental disuse (i.e. hind limb immobilization) associated with PA induced muscle fiber atrophy, extracellular...
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PMID: 18061167
PDF is available here.
Abstract
We report the cases of two patients with such an anomaly who had been born within 10 days of each other at a regional hospital in upstate New York. Fewer than 100 cases of congenital midline cervical cleft have been reported in the literature, and to the best of our knowledge, none of the other repo...
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PMID: 18404916
PDF is available here.
Abstract
As a result of these findings, we recommend a thorough evaluation and advanced imaging of the upper cervical spine in all children who present with symptoms related to the upper cervical spine, to identify associated anomalies and further define the nature of canal encroachment including any potenti...
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PMID: 18245594
PDF is available here.
Abstract
Depending on their severity, congenital or acquired, the deformations of the locomotor system affect more or less the child's mental status. Adolescence is the time when their impact is most important. When the physical, mental or functional suffering become a disability, professional and psycho-soc...
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PMID: 19295008
PDF is available here.
Abstract
A panel of diagnostic investigations, depending on the organ system involved, allows for a more precise diagnosis and a more reliable estimate of recurrence risk than prenatal ultrasound alone. In some instances, recurrence risk estimation is not straightforward as evidenced by lack of consensus....
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PMID: 18798055
PDF is available here.
Abstract
We performed a cross-sectional study on all live newborns with birth defects from January 1, 2000, to December 31, 2004. The variables referred to birth defects (presence and system affected), type of health service, mothers, gestations, live births, and deliveries. Prevalence of birth defects was 8...
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PMID: 18209842
PDF is available here.
Abstract
We present a unique occurrence of an accessory brachialis muscle (acBr) that formed a fibro-muscular tunnel after blending with the medial intermuscular septum in the lower part of the arm. This tunnel contained the median nerve, the brachial artery and few additional twigs that innervated the neigh...
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PMID: 19050812
PDF is available here.
Abstract
Eighty-three percent of the 602 patients had a sonographically detectable abnormality, 2.2% of whom had an abnormality not detectable by routine protocol-based scanning. The more peripheral the body part, the more likely that abnormalities detected by sonography correlated with focal symptoms: 81% i...
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PMID: 18094286
PDF is available here.