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Electroactive smart materials play an important role for tissue regenerative applications. Poly(vinylidene fluoride) (PVDF) is a specific subtype of piezoelectric electroactive material that generates electrical potential upon mechanical stimulation. This work focuses on the application of piezoelectric PVDF films for neural differentiation. Human neural precursor cells (hNPCs) are cultured on piezoelectric poled and non-poled -PVDF films with or without a pre-coating step of poly-d-lysine and laminin (PDL/L). Subsequently, hNPCs differentiation into the neuronal lineage is assessed (MAP2+ and DCX+) under static or dynamic (piezoelectric stimulation) culture conditions. The results demonstrate that poled and coated -PVDF films induce neuronal differentiation under static culture conditions which is further enhanced with mechanical stimulation. In silico calculations of the electrostatic potential of different domains of laminin, highlight the high polarity of those domains, which shows a clear preference to interact with the varying surface electric field of the piezoelectric material under mechanical stimulation. These interactions might explain the higher neuronal differentiation induced by poled -PVDF films pre-coated with PDL/L under dynamic conditions. Our results suggest that electromechanical stimuli, such as the ones induced by piezoelectric -PVDF films, are suitable to promote neuronal differentiation and hold great promise for the development of neuroregenerative therapies., Fundação para a Ciência e a Tecnologia, Grant/Award Numbers: POCI-01-0145-FEDER-029206, POCI-01-0145-FEDER-031392, PTDC/MED-NEU/31417/2017, UIDB/50026/2020, UIDP/50026/2020, NORTE-01-0145-FEDER-029968, POCI-01-0145-FEDER-029751, POCI-01-0145-FEDER-032619, UID/FIS/04650/2020, PTDC/EMD-EMD/28159/2017, PTDC/BTM-MAT/28237/2017, PTDC/QUI-OUT/32243/2017, LA/P/0058/2020, UIDB/04539/2020, UIDP/04539/2020, POCI-01-0145-FEDER-031356, DSAIPA/DS/0118/2020; Santa Casa da Misericórdia de Lisboa, Grant/Award Numbers: MC-04-17, MC-18-21; Basque Government Industry Departments; Spanish State Research Agency; European Regional Development Fund, Grant/Award Number: PID2019-106099RB-C43/AEI; Northern Portugal Regional Operational Program, Grant/Award Numbers: NORTE-01-0145-FEDER-000023, NORTE-01-0145-FEDER-000013; Portuguese Platform of Bioimaging, Grant/Award Number: PPBI-POCI-01-0145-FEDER-022122; ICVS Scientific Microscopy Platform; Portuguese Foundation for Science and Technology, Grant/Award Number: PD/BDE/143150/2019, info:eu-repo/semantics/publishedVersion

The crosstalk between glial cells and neurons represents an exceptional feature for maintaining the normal function of the central nervous system (CNS). Increasing evidence has revealed the importance of glial progenitor cells in adult neurogenesis, reestablishment of cellular pools, neuroregeneration, and axonal (re)myelination. Several types of glial progenitors have been described, as well as their potentialities for recovering the CNS from certain traumas or pathologies. Among these precursors, glial-restricted precursor cells (GRPs) are considered the earliest glial progenitors and exhibit tripotency for both Type I/II astrocytes and oligodendrocytes. GRPs have been derived from embryos and embryonic stem cells in animal models and have maintained their capacity for self-renewal. Despite the relatively limited knowledge regarding the isolation, characterization, and function of these progenitors, GRPs are promising candidates for transplantation therapy and reestablishment/repair of CNS functions in neurodegenerative and neuropsychiatric disorders, as well as in traumatic injuries. Herein, we review the definition, isolation, characterization and potentialities of GRPs as cell-based therapies in different neurological conditions. We briefly discuss the implications of using GRPs in CNS regenerative medicine and their possible application in a clinical setting. MAIN POINTS: GRPs are progenitors present in the CNS with differentiation potential restricted to the glial lineage. These cells have been employed in the treatment of a myriad of neurodegenerative and traumatic pathologies, accompanied by promising results, herein reviewed.

Background Asthma is heterogeneous disease with different phenotypes, endotypes and severities. Definition of these subgroups requires the identification of biomarkers in biological samples, and serum proteomics is a useful and minimally invasive method for this purpose. Therefore, the aim of this study was to detect serum proteins whose abundance is distinctively associated with different asthma phenotypes (allergic vs nonallergic) or severities. Methods For each group of donors (32 healthy controls, 43 allergic rhinitis patients and 192 asthmatics with different phenotypes and severities), we generated two pools of sera that were analysed by a shotgun MS approach based on combinatorial peptide ligand libraries and iTRAQ-LC-MS/MS. Results MS analyses identified 18 proteins with a differential abundance. Functional/network study of these proteins identified key processes for asthma pathogenesis, such as complement activation, extracellular matrix organization, platelet activation and degranulation, or post-translational protein phosphorylation. Furthermore, our results highlighted an enrichment of the "Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)" route in allergic asthma and the lectin pathway of complement activation in nonallergic asthma. Thus, several proteins (eg IGFALS, HSPG2, FCN2 or MASP1) displayed a differential abundance between the different groups of donors. Particularly, our results revealed IGFALS as a useful biomarker for moderate-severe allergic asthma. Conclusion Our data suggest a set of serum biomarkers, especially IGFALS, capable of differentiating allergic from nonallergic asthma. These proteins reveal different pathophysiological mechanisms and may be useful in the future for diagnosis, prognosis or targeted therapy purposes.

Presence of bacteria in wounds can delay healing. Addition of a regularly instilled topical solution over the wound during negative‐pressure wound therapy (NPWT) may reduce bioburden levels compared with standard NPWT alone. We performed a prospective, randomised, multi‐centre, post‐market trial to compare effects of NPWT with instillation and dwell of polyhexamethylene biguanide solution vs NPWT without instillation therapy in wounds requiring operative debridement. Results showed a significantly greater mean decrease in total bacterial counts from time of initial surgical debridement to first dressing change in NPWT plus instillation (n = 69) subjects compared with standard NPWT (n = 63) subjects (−0.18 vs 0.6 log10 CFU/g, respectively). There was no significant difference between the groups in the primary endpoint of required inpatient operating room debridements after initial debridement. Time to readiness for wound closure/coverage, proportion of wounds closed, and incidence of wound complications were similar. NPWT subjects had 3.1 times the risk of re‐hospitalisation compared with NPWT plus instillation subjects. This study provides a basis for exploring research options to understand the impact of NPWT with instillation on wound healing.

Animal models of human diseases are crucial experimental tools to investigate the mechanisms involved in disease pathogenesis and to develop new therapies. In spite of the numerous animal models currently available that reproduce several neuropathological features of Parkinson disease (PD), it is challenging to have one that consistently recapitulates human PD conditions in both motor behaviors and biochemical pathological outcomes. Given that, we have implemented a new paradigm to expose rats to a chronic low dose of paraquat (PQ), using osmotic minipumps and characterized the developed pathologic features over time. The PQ exposure paradigm used lead to a rodent model of PD depicting progressive nigrostriatal dopaminergic neurodegeneration, characterized by a 41% significant loss of dopaminergic neuron in the substantia nigra pars compacta (SNpc), a significant decrease of 18% and 40% of dopamine levels in striatum at week 5 and 8, respectively, and a significant 1.5-fold decrease in motor performance. We observed a significant increase of microglia activation state, sustained levels of α-synucleinopathy and increased oxidative stress markers in the SNpc. In summary, this is an explorative study that allowed to characterize an improved PQ-based rat model that recapitulates cardinal features of PD and may represent an attractive tool to investigate several mechanisms underlying the various aspects of PD pathogenesis as well as for the validation of the efficacy of new therapeutic approaches that targets different mechanisms involved in PD neurodegeneration.

BACKGROUND Treatment of advanced lymphedema requires not only restoration of physiological lymph drainage, but also excision of fibrotic tissue and excess skin. The aim of this study is to show how the combination of double vascularized lymph node transfers (VLNTs) and a modified radical reduction with preservation of perforators (RRPP) can accomplish both of these treatment goals. METHODS Between 2010 and 2016, 16 patients (15 female and one male) with extremity lymphedema underwent a combined double gastroepiploic VLNTs and modified RRPP. Demographics, outcomes including circumference reduction rates, preoperative and postoperative lymphoscintigraphy, complications, and responses to the Lymphedema Quality of Life (LYMQOL) questionnaire were analyzed. RESULTS All flaps survived. The mean follow-up period was 14.2 months (range, 12-19). The mean circumference reduction rate was 74.5% ± 6.9% for the upper limb and 68.0% ± 4.2% for the lower limb. There were no major complications. Minor complications, including numbness and hyperesthesia, were treated conservatively. LYMQOL showed a 2.7-fold quality-of-life improvement (P

Approximately 6.5 million Americans suffer from nonhealing wounds. As physicians are increasingly expected to manage chronic wounds, the degree to which formalized wound care education exists as a clinical rotation is unclear. For the first time, the prevalence and characteristics of formal wound electives offered by US medical schools are documented. Online surveys were distributed to 134 US medical schools and to the 74 medical students who completed the wound healing elective at the University of Miami regarding their experiences. School response rate was 41% (n = 55). We found that out of 55 schools, only 7 schools offered a formal wound healing elective. The University of Miami was the only school to include a surgical component. Students' response rate was 39% (n = 29). After completing the elective, 20 students (69%) felt confident in their knowledge of surgical and medical wound management. A majority of students (76%, n = 22) felt that the elective was an important part of the medical school curriculum. In conclusion, we found very few schools offer a formal wound elective and recommend medical schools in formalizing this education through clinical electives. Education should be team-based and multidisciplinary; evidence exists that this is the best approach to managing chronic wounds. Basic tenets of wound care, both medical and surgical, should be emphasized.

Spinal cord injury (SCI) leads to devastating neurological deficits. Several tissue engineering (TE)-based approaches have been investigated for repairing this condition. Poly (3-hydroxybutyrate-co-3-hydroxyvalerate) (PHB-HV) is found to be particularly attractive for TE applications due to its properties, such as biodegradability, biocompatibility, thermoplasticity and piezoelectricity. Hence, this report addresses the development and characterization of PHB-HV-based 3D scaffolds, produced by freeze-drying, aimed to SCI treatment. The obtained scaffolds reveal an anisotropic morphology with a fully interconnected network of pores. In vitro studies demonstrate a lack of cytotoxic effect of PHB-HV scaffolds. Direct contact assays also reveal their ability to support the culture of CNS-derived cells and mesenchymal-like stem cells from different sources. Finally, histocompatibility studies show that PHB-HV scaffolds are well tolerated by the host tissue, and do not negatively impact the left hindlimb locomotor function recovery. Therefore results herein presented suggest that PHB-HV scaffolds may be suitable for SCI treatment.

The authors would like to acknowledge the Portuguese Foundation for Science and Technology (Pre-Doctoral fellowship to Susana R. Cerqueira SFRH/BD/48406/2008; Post-Doctoral fellowship to Joaquim M. Oliveira SFRH/BPD/63175/2009; Grant No. PTDC/SAU-BMA/114059/2009; Science 2007 Program - Antonio J. Salgado); the Foundation Calouste de Gulbenkian to funds attributed to Antonio J. Salgado under the scope of the The Gulbenkian Programme to Support Research in the Life Sciences; this work was also partially supported by the European FP7 Project Find and Bind (NMP4-SL-2009-229292).

Financial support from the Portuguese Foundation for Science and Technology through funds from POCTI and/or FEDER programs (Funding to ICVS, 3B's Research Group, post-doctoral and pre-doctoral fellowships to A.J. Salgado and J.M. Oliveira - SFRH/BPD/17595/2004; SFRH/BD/21786/2005) is gratefully acknowledged. This work was also carried out under the scope of the European NoE EXPERTISSUES (NMP3-CT-2004-500283) and HIPPOCRATES STREP (NMP3-CT-2003-505758) projects.

Central vein occlusion (CVO) is not uncommonly observed after hemodialysis (HD) catheter placement and it may prevent subsequent ipsilateral arteriovenous (AV) access creation. Right internal jugular vein catheterization (RJVC) appears to be the insertion site with the lowest incidence of CVO, but little is known about the incidence of CVO following left internal jugular vein catheterization (LJVC). We report on four patients with left innominate vein occlusion after LJVC who developed severe arm swelling after ipsilateral AV access creation. In three of the four cases swelling appeared 12–26 months after access creation, and in the fourth, swelling developed immediately after surgery while the catheter was still in place. Two patients underwent access ligation and in the remainder the arm swelling improved either spontaneously or after LJVC removal. LJVC is not as safe as RJVC as an insertion route for HD catheter placement in terms of CVO frequency.

Our purpose was to evaluate the in vivo endosseous response to three starch-based scaffolds implanted in rats (n = 54). We implanted the three scaffold groups; a 50/50 (wt %) blend of corn starch and ethylene-vinyl alcohol (SEVA-C), the same composition coated with a biomimetic calcium phosphate (Ca-P) layer (SEVA-C/CaP), and a 50/50 (wt %) blend of corn starch and cellulose acetate (SCA), all produced by extrusion with blowing agents, into distal femurs proximal to the epiphyseal plate, for 1, 3, or 6 weeks. Our results showed that at 1 week considerable reparative bone formed around all scaffold groups, although the bone was separated from the scaffold by an intervening soft tissue interfacial zone that comprised two distinct compartments: the surface of the scaffold was occupied by multinucleate giant cells and the compartment between these cells and the surrounding bone was occupied by a streaming fibrous-like tissue. The extracellular matrix of the latter was continuous with the extracellular bone matrix itself, labeled positively for osteocalcin and appeared mineralized by back-scattered electron imaging. All three scaffolds showed a similar tissue response, with the soft tissue interface diminishing with time. No bone contact was observed with SEVA-C at any time point, only transitory bone contact was observed with SEVA-C/CaP at 3 weeks, but SCA exhibited direct bone contact at 6 weeks where 56.23 ± 6.46% of the scaffold surface was occupied by bone. We conclude that all materials exhibited a favorable bony response and that the rapidly forming initial “connective tissue” seen around all scaffolds was a very early form of bone formation. © 2006 Wiley Periodicals, Inc. J Biomed Mater Res, 2006

The number of patients on chronic hemodialysis (HD) is steadily increasing worldwide. The creation of a well-functioning vascular access represents a critical aspect in their management. Autogenous arteriovenous fistulas (AVF) are considered the first choice vascular access in terms of lower morbidity and costs, and higher survival rates when compared with grafts. However, creating AVF at high rates is a complex task that requires a multidisciplinary approach, which includes nephrologists, access surgeons, dialysis nurses and radiologists. In the present work we review concisely the basic steps, for preserving all potential autogenic sites at both upper extremities for future AVF creation and, for prolonging the length of AVF survival. We feel that a more proactive involvement of nephrologists in the basic steps for AVF creation would substantially contribute to increase AVF rates among HD patients.

[Excerpt] Peripheral nerve injuries represent a major cause for morbidity and disability in affected patients and cause substantial costs for society in a global perspective. It has been estimated that peripheral nerve injuries affect 2.8% of trauma patients,many of whom acquire life-long disability (Noble et al., 1998). With respect to an incidence of nerve injuries of 13.9/100,000 inhabitants per year (Asplund et al., 2009) and the number of inhabitants in the EU (495,000,000 inhabitants in 2007), the number of peripheral nerve injuries requiring repair and reconstruction, excluding nerve injuries by amputations, may be 70,000 annually only in EU countries. Related to peripheral nerve injuries, the costs for society are substantial and consist of direct (costs for surgery, outpatient visits and rehabilitation) and indirect (lost production) costs. Individual median and ulnar nerve injuries in the forearm have total costs of EUR 51,000 and 31,000, respectively, where around 85% of the costs consist of loss of production (Rosberg et al., 2005), still excluding costs for adjusted quality of life ( Eriksson et al., 2011) . Thus, one may estimate that the annual costs only in the EU may be as high as EUR 2.2 billion, indicating that improved treatment strategies for peripheral nerve injuries may not only improve the situation for patients, but may also significantly reduce costs for society. [...], (undefined)

We investigated the role of kainate (KA) receptor activation and desensitization in inducing the increase in the intracellular free Ca2+ concentration ([Ca2+]i) in individual cultured rat hippocampal neurons. The rat hippocampal neurons in the cultures were shown to express kainate receptor subunits, KA2 and GluR6/7, either by immunocytochemistry or by immunoblot analysis. The effect of LY303070, an α-amino-3-hydroxy-5-methyl-isoxazole-4-propionate (AMPA) receptor antagonist, on the alterations in the [Ca2+]i caused by kainate showed cell-to-cell variability. The [Ca2+]i increase caused by kainate was mostly mediated by the activation of AMPA receptors because LY303070 inhibited the response to kainate in a high percentage of neurons. The response to kainate was potentiated by concanavalin A (Con A), which inhibits kainate receptor desensitization, in 82.1% of the neurons, and this potentiation was not reversed by LY303070 in about 38% of the neurons. Also, upon stimulation of the cells with 4-methylglutamate (MGA), a selective kainate receptor agonist, in the presence of Con A, it was possible to observe [Ca2+]i changes induced by kainate receptor activation, because LY303070 did not inhibit the response in all neurons analyzed. In toxicity studies, cultured rat hippocampal neurons were exposed to the drugs for 30 min, and the cell viability was evaluated at 24 hr using the 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay. The selective activation of kainate receptors with MGA, in the presence of Con A, induced a toxic effect, which was not prevented by LY303070, revealing a contribution of a small subpopulation of neurons expressing kainate receptors that independently mediate cytotoxicity. Taken together, these results indicate that cultured hippocampal neurons express not only AMPA receptors, but also kainate receptors, which can modulate the [Ca2+]i and toxicity. J. Neurosci. Res. 65:378–386, 2001. © 2001 Wiley-Liss, Inc.

Cytomegalovirus (CMV) infections frequently develop in renal transplant patients. The transplanted kidney may be not only the source of infection but also the target for it. We report a case of primary CMV infection in a seronegative patient who received a graft from a seropositive cadaveric donor. The onset of CMV was clinically apparent on post-transplant day 22. Interestingly, soon after transplantation, the patient developed a long-lasting graft dysfunction episode for which diffuse endothelial-cell swelling was the most relevant finding at biopsy. On sonography, renal graft vascular impedance deteriorated and improved repeatedly during the follow-up period. We postulate that the patient had CMV-induced immunogenic-mediated endothelial-cell injury.

An epidemiological analysis of the association of polydactyly with other congenital anomalies was performed in 5,927 consecutively born polydactyly cases. They were grouped into three categories: duplicated fifth digit, duplicated first digit, and rare polydactylies; also into isolated or associated groups, if other birth defects were or were not observed in the same infant. Associated cases were further subdivided into: combined, if the other defect was a limb defect; syndromic, if a non-limb defect constituted a recognized causal or pathogenetic entity; and MCA, if a non-limb defect did not constitute a recognized entity. In 14.6% of the 5,927 polydactyly cases studied, polydactyly was not the only congenital anomaly. This associated proportion was minimal for postaxial (11.8%), intermediate for preaxial-I (20.0%), and maximal for rare polydactyly (54.9%). Duplication of the fifth toe plus syndactyly of fourth and fifth toes, as well as other syndactylies adjacent to the duplicated digit is the most frequent type. Syndactyly of fourth and fifth toes was also combined with a duplicated fifth finger, suggesting the existence of an arrested or amputated in utero sixth toe. Polydactylies are rarely associated with other congenital anomalies except in recognizable syndromes. When syndromes are excluded, most of the significant positive associations disappear. Trisomy 13, Meckel, and Down syndrome explained 255 of the 338 syndromic polydactyly cases. Down syndrome is strongly associated with first-digit duplication, and negatively associated with postaxial polydactyly. The latter could not be explained by maternal age differences among Black and non-Black case sub-sets.

The control and manipulation of cells that trigger secondary mechanisms following spinal cord injury (SCI) is one of the fi rst opportunities to minimize its highly detrimental outcomes. Herein, the ability of surface-engineered carboxymethylchitosan/ polyamidoamine (CMCht/PAMAM) dendrimer nanoparticles to intracellularly deliver methylprednisolone (MP) to glial cells, allowing a controlled and sustained release of this corticosteroid in the injury site, is investigated. The negatively charged MP-loaded CMCht/PAMAM dendrimer nanoparticles with sizes of 109 nm enable a MP sustained release, which is detected for a period of 14 days by HPLC. In vitro studies in glial primary cultures show that incubation with 200 μ g mL − 1 nanoparticles do not affect the cells’ viability or proliferation, while allowing the entire population to internalize the nanoparticles. At higher concentrations, microglial cell viability is proven to be affected in response to the MP amount released. Following lateral hemisection lesions in rats, nanoparticle uptake by the spinal tissue is observed 3 h after administration. Moreover, signifi cant differences in the locomotor output between the controls and the MP-loaded nanoparticle-treated animals one month after the lesion are observed. Therefore, MP-loaded CMCht/PAMAM dendrimer nanoparticles may prove to be useful in the reduction of the secondary injury following SCI., The authors would like to acknowledge the funds attributed by the Portuguese Foundation for Science and Technology (pre- and post-doctoral fellowships to S. R. Cerqueira: SFRH/BD/48406/2008 and J.M. Oliveira: SFRH/BPD/63175/2009; Ciencia 2007 Program to A.J. Salgado; Grant PTDC/SAU-BMA/114059/2009). We also thank Foundation Calouste de Gulbenkian to funds attributed to A.J. Salgado under the scope of the Gulbenkian Programme to Support Cutting Edge Research in Life Sciences.

Microchannel-patterned starch–poly(capro-lactone)/hydydroxyapatite (SPCL–HA) and starch– poly(lactic acid) (SPLA) composite membranes were produced for use as a laminated tissueengineering scaffold that incorporates both physical and biochemical patterns. For this purpose, SPCL (30% starch) blended with inorganic hydroxyl apatite (50%) and SPLA (50% starch) membranes were made with compressive moulding. Consequently, the microchannel structures (width 102 μm, 174 μm intervals) were developed on the composite membranes by means of micro-patterned metal mould(s) and hydraulic pressing. An elastomer poly(dimetylsiloxane) stamp was used to transfer heparin as a biochemical cue over the microchannel surfaces by micro-contact printing (μCP). Toluidine blue staining of developed capillaries and heparin μCP-coated membranes showed that heparin was transferred predominantly over the microchannel surfaces. Fibroblast cell culture over the microchannel-formed and heparin μCP-modified SPCL–HA and SPLA membranes showed distinct growth patterns. In contrast to the uniform cell layer formed on unmodified microchannels, the cells were bridging across the grooves of heparin-printed microchannels. At extended culture periods, the heparin-printed microchannels were covered with a layer of fibroblast cells without cellular ingrowths inside. This study indicated that the topographical pattern could induce an organization of fibroblasts only with the biochemical cue and the cells’ functions can be controlled spatially over the microchannels by using both cues., E. T. Baran thanks the Portuguese Foundation for Science and Technology (FCT) for providing a post-doctoral scholarship (No. SFRH/BPD/30768/2006). This work was partially supported by the FCT through funds from the POCTI and/or FEDER programmes and also by the European Union-funded STREP Project HIPPOCRATES (Grant No. NMP3-CT-2003-505758).

Although several major progresses have been introduced in the field of bone regenerative medicine during the years, current therapies, such as bone grafts, still have many limitations. Moreover, and in spite of the fact that material science technology has resulted in clear improvements in the field of bone substitution medicine, no adequate bone substitute has been developed and hence large bone defects/injuries still represent a major challenge for orthopaedic and reconstructive surgeons. It is in this context that TE has been emerging as a valid approach to the current therapies for bone regeneration/substitution. In contrast to classic biomaterial approach, TE is based on the understanding of tissue formation and regeneration, and aims to induce new functional tissues, rather than just to implant new spare parts. The present review pretends to give an exhaustive overview on all components needed for making bone tissue engineering a successful therapy. It begins by giving the reader a brief background on bone biology, followed by an exhaustive description of all the relevant components on bone TE, going from materials to scaffolds and from cells to tissue engineering strategies, that will lead to engineered bone., Portuguese Foundation for Science and Technology through funds from POCTI and/or FEDER programs.

The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.