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EIF4A3 deficient human iPSCs and mouse models demonstrate neural crest defects that underlie Richieri-Costa-Pereira syndrome.

Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations. However, the pathogenic cellular mechanisms responsible for this syndrome are entirely unknown. Here, we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective neural crest cell (NCC) development explains RCPS craniofacial abnormalities. RCPS iNCCs have decreased migratory capacity, a d

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Pierre Robin sequence (PRS) is an aetiologically distinct subgroup of cleft palate. We aimed to define the critical genomic interval from five different 5q22-5q31 deletions associated with PRS or PRS-associated features and assess each gene within the region as a candidate for the PRS component of the phenotype. Clinical array-based comparative genome hybridisation (aCGH) data were used to define a 2.08 Mb minimum region of overlap among four de novo deletions and one mother-son inherited deletion associated with at least one component of PRS. Commonly associated anomalies were talipes equinov

A case of ring chromosome 18 syndrome treated with a combined orthodontic-prosthodontic approach.

OBJECTIVE: The aim of this study was to report the case of a Japanese subject with ring chromosome 18 syndrome. A cephalometric analysis was performed, and the treatment procedure is described. DESIGN: Lateral and posteroanterior cephalograms were compared with Japanese norms. Dental anomalies were evaluated by a model analysis. The outcome of orthodontic-prosthodontic treatment was evaluated by comparing cephalograms during the course of treatment. RESULTS: The cephalometric analysis showed a reduction in the cranial base length and cranial width, midfacial depth, and height and width. Comp

Congenital talipes equinovarus in Papua New Guinea: a difficult yet potentially manageable situation.

Reports in the literature have suggested a high incidence of congenital deformities, including congenital talipes equinovarus (CTEV), in many Pacific Islands. This study performed a retrospective analysis of cases of CTEV in an isolated region of Papua New Guinea over a 2-year period. Data was collected on the incidence of CTEV, together with an analysis of initial treatment and outcome. The incidence of CTEV was 2.7 per 1,000 live births per year. A peak incidence of CTEV births in September suggested that maternal anaemia secondary to malaria was a significant risk factor. Good functional ou

[Resection of navicular bone for severe midfoot deformity in children].

PURPOSE OF THE STUDY: The navicular bone lies at the apex of the deformity in severe talipes planovalgus with forefoot abductus, in the residual cavus of congenital talipes equinovarus, in certain cases of congenital convexity, and in certain types of neurological equinovarus. Resection of the navicular bone can be proposed to correct certain deformities. MATERIAL AND METHODS: This series included 15 feet operated on in 13 children from 1980 to 2003. The deformity to be corrected was a residual cavus after surgery for congenital talipes equinovarus (five feet), plantar and medial dislocation

[Study of torsion defects of the lower limbs using computerized tomography].

January, 1990, to July, 1993, the torsional defects of the lower limbs were studied at the Department of Radiology of the Istituto Ortopedico Rizzoli, Bologna. Ninety-three patients were examined, all of them affected with congenital or acquired (posttraumatic and/or iatrogenic) torsional defects. The torsional angles, i.e., the anteversion acetabulum angle, the anteversion femoral neck angle and the tibial torsion angle, were measured as follows: the patients were laid supine with their limbs either in intrarotation with the patella perpendicular to the table (62 patients) or in neutral rotat

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation.

Intracranial hemorrhage in a term neonate is a rare event in the absence of an identifiable precipitating factor such as severe thrombocytopenia, mechanical trauma, asphyxia, infections, or congenital vascular malformations. Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of multisystem disorders characterized by the abnormal glycosylation of a number of glycoproteins. Although bleeding caused by abnormal glycosylation of various coagulation factors is a well-known clinical complication of several types of congenital disorders of glycosylation, intrac

An Analysis of Relative Gait Impairment in Commonly Diagnosed Pediatric Conditions.

BACKGROUND: Gait indices were developed to represent the magnitude of impairment extracted from a gait analysis with a single value. The Gillette Gait Index (GGI), and the Gait Deviation Index (GDI) are 2 widely used indices that represent gait impairment differently based on their statistical properties. Our purpose was to (1) report on the results of gait analysis for a broad spectrum of pediatric conditions using the GGI and GDI, and (2) identify the parameters that dominate impairment. METHODS: A total of 1439 children with 13 different diagnoses with a complete, baseline gait analysis we

Late first-trimester invasive prenatal diagnosis: results of an international randomized trial.

OBJECTIVE: To assess, in a randomized trial, the safety and accuracy of amniocentesis and transabdominal chorionic villus sampling (CVS) performed at 11-14 weeks of gestation, given that this time frame is increasingly relevant to early trisomy screening. METHODS: We compared amniocentesis with CVS from 77 to 104 days of gestation in a randomized trial in a predominantly advanced maternal age population. Before randomization, the feasibility of both procedures was confirmed by ultrasonography, and experienced operators performed sampling under ultrasound guidance; conventional cytogenetic ana

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.

Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of weakness in 36 adult patients. Our analysis shows that nearly all children exhibit weakness or contractures during the first 2 years of life. Early features include diminished foetal movements, neonatal

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.

IntroductionHypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation. At the mild end of the spectrum, it presents as pathologic fractures in later adulthood. Patients with isolated dental manifestations, typically presenting as premature loss of primary teeth, are classified as having odontohypophosphatasia (odontoHPP). A subset of patients diagnosed with odontoHPP in childhood can later develop extra-dental manifestations

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… She had clubfoot deformity in infancy and experienced 6 fractures starting at age 6 years. A right knee MRI at age 41 showed findings of chondromalacia, with thinning of the articular cartilage over both femoral condyles. …

[Using the gait laboratory for the investigation of orthopaedic clinical problems in children].

AIM OF THE STUDY: We point out multiple applications of a gait laboratory in solving different problems in the children's orthopaedic field. With typical examples we show how biometrical data of the gait laboratory can be helpful to solve problems in orthopaedic examinations. MATERIAL AND METHOD: The range of questions to be solved in the gait laboratory differs from individual diagnostic examinations of a patient up to the control of devices in the functional use at the patient. As a typical example for the individual examination we show the gait analysis in a 14-year-old girl with idiopathi